A0A3Q4EGQ9 · A0A3Q4EGQ9_MOUSE
- ProteinMitogen-activated protein kinase kinase kinase kinase
- GeneMap4k3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids873 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389485267 | 37 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80988341T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80988341T>A Locations: - p.Asn37Ile (Ensembl:ENSMUST00000234133) - c.110A>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389393927 | 43 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000083.7:g.80988324C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80988324C>A Locations: - p.Ala43Ser (Ensembl:ENSMUST00000234133) - c.127G>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3411385481 | 52 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.80988297C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80988297C>T Locations: - p.Gly52Arg (Ensembl:ENSMUST00000234133) - c.154G>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3408113477 | 233 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80951949G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80951949G>T Locations: - p.Pro233Thr (Ensembl:ENSMUST00000234133) - c.697C>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389429917 | 239 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.80951930T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80951930T>C Locations: - p.Lys239Arg (Ensembl:ENSMUST00000234133) - c.716A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389494785 | 266 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.80951766T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80951766T>C Locations: - p.Lys266Arg (Ensembl:ENSMUST00000234133) - c.797A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389429929 | 340 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000083.7:g.80937882G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80937882G>A Locations: - p.Pro340Ser (Ensembl:ENSMUST00000234133) - c.1018C>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389483146 | 362 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000083.7:g.80931514G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80931514G>C Locations: - p.His362Gln (Ensembl:ENSMUST00000234133) - c.1086C>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389478605 | 372 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.80931485T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80931485T>C Locations: - p.Lys372Arg (Ensembl:ENSMUST00000234133) - c.1115A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482149 | 373 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80926023T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80926023T>C Locations: - p.Ser373Gly (Ensembl:ENSMUST00000234133) - c.1117A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389440101 | 403 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000083.7:g.80925724G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80925724G>C Locations: - p.His403Asp (Ensembl:ENSMUST00000234133) - c.1207C>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482138 | 478 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80921435T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80921435T>A Locations: - p.Gln478Leu (Ensembl:ENSMUST00000234133) - c.1433A>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389440073 | 500 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000083.7:g.80921370A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80921370A>G Locations: - p.Ser500Pro (Ensembl:ENSMUST00000234133) - c.1498T>C (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389462115 | 505 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80921353C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80921353C>A Locations: - p.Lys505Asn (Ensembl:ENSMUST00000234133) - c.1515G>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs50571501 | 507 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000083.7:g.80921349C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80921349C>T Locations: - p.Val507Ile (Ensembl:ENSMUST00000234133) - c.1519G>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389485255 | 513 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000083.7:g.80920925T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80920925T>C Locations: - p.Asn513Ser (Ensembl:ENSMUST00000234133) - c.1538A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389440108 | 519 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80920907G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80920907G>T Locations: - p.Pro519His (Ensembl:ENSMUST00000234133) - c.1556C>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389494834 | 531 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80919518A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80919518A>T Locations: - p.Phe531Leu (Ensembl:ENSMUST00000234133) - c.1593T>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389489704 | 546 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80919475T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80919475T>G Locations: - p.Asn546His (Ensembl:ENSMUST00000234133) - c.1636A>C (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482977 | 639 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80911466A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80911466A>T Locations: - p.Phe639Ile (Ensembl:ENSMUST00000234133) - c.1915T>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389498929 | 647 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80911441T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80911441T>G Locations: - p.Glu647Ala (Ensembl:ENSMUST00000234133) - c.1940A>C (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482060 | 648 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80911438G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80911438G>A Locations: - p.Thr648Ile (Ensembl:ENSMUST00000234133) - c.1943C>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389429931 | 666 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.80909697G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.80909697G>C Locations: - p.Tyr666Ter (Ensembl:ENSMUST00000234133) - c.1998C>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389489679 | 680 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80909657A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80909657A>G Locations: - p.Trp680Arg (Ensembl:ENSMUST00000234133) - c.2038T>C (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389477321 | 684 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80909644A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80909644A>G Locations: - p.Met684Thr (Ensembl:ENSMUST00000234133) - c.2051T>C (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389392386 | 690 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000083.7:g.80909627T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80909627T>C Locations: - p.Ile690Val (Ensembl:ENSMUST00000234133) - c.2068A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482077 | 702 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80905123G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80905123G>A Locations: - p.Arg702Trp (Ensembl:ENSMUST00000234133) - c.2104C>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389462133 | 723 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80905059C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80905059C>A Locations: - p.Arg723Ile (Ensembl:ENSMUST00000234133) - c.2168G>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389448524 | 729 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.80905042G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.80905042G>A Locations: - p.Gln729Ter (Ensembl:ENSMUST00000234133) - c.2185C>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389429960 | 743 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80905000A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80905000A>G Locations: - p.Ser743Pro (Ensembl:ENSMUST00000234133) - c.2227T>C (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482925 | 760 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80900554C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80900554C>A Locations: - p.Gln760His (Ensembl:ENSMUST00000234133) - c.2280G>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482075 | 782 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80900414T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80900414T>C Locations: - p.Arg782Gly (Ensembl:ENSMUST00000234133) - c.2344A>G (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482075 | 782 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80900414T>A Codon: AGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80900414T>A Locations: - p.Arg782Trp (Ensembl:ENSMUST00000234133) - c.2344A>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389429989 | 807 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80892209C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80892209C>T Locations: - p.Asp807Asn (Ensembl:ENSMUST00000234133) - c.2419G>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389482113 | 818 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.80892176G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.80892176G>A Locations: - p.Gln818Ter (Ensembl:ENSMUST00000234133) - c.2452C>T (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: | |||||||
rs3389494806 | 838 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.80890012A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.80890012A>T Locations: - p.Phe838Tyr (Ensembl:ENSMUST00000234133) - c.2513T>A (Ensembl:ENSMUST00000234133) Source type: large scale study Cross-references: |