Incidental Mutation 'IGL01338:Cox6a1'
ID 278288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox6a1
Ensembl Gene ENSMUSG00000041697
Gene Name cytochrome c oxidase subunit 6A1
Synonyms subunit VIaL (liver-type), VIaL
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # IGL01338
Quality Score
Status
Chromosome 5
Chromosomal Location 115483711-115487017 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 115483898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031508] [ENSMUST00000040154] [ENSMUST00000139167]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031508
SMART Domains Protein: ENSMUSP00000031508
Gene: ENSMUSG00000029535

DomainStartEndE-ValueType
Pfam:UPF0203 1 70 1.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040154
SMART Domains Protein: ENSMUSP00000047661
Gene: ENSMUSG00000041697

DomainStartEndE-ValueType
Pfam:COX6A 24 105 2.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137766
Predicted Effect probably benign
Transcript: ENSMUST00000139167
SMART Domains Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536

DomainStartEndE-ValueType
Pfam:Glu-tRNAGln 69 134 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202607
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired coordination, thinned sciatic nerves, neurogenic muscular changes and delayed motor nerve conduction velocity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,591,014 (GRCm39) T494A possibly damaging Het
Adamts16 C T 13: 70,984,234 (GRCm39) C143Y probably damaging Het
Cacna1i A G 15: 80,232,581 (GRCm39) I195V probably damaging Het
Casp7 T C 19: 56,392,896 (GRCm39) S17P probably benign Het
Cfap298 T C 16: 90,722,936 (GRCm39) N266S possibly damaging Het
Cpvl T A 6: 53,951,640 (GRCm39) S48C possibly damaging Het
Cyp2b19 G T 7: 26,458,842 (GRCm39) M138I probably benign Het
Dennd5a T C 7: 109,518,611 (GRCm39) Y510C possibly damaging Het
Derl2 A G 11: 70,901,181 (GRCm39) F229S possibly damaging Het
Dlec1 A G 9: 118,949,979 (GRCm39) E452G probably damaging Het
Dsc2 T C 18: 20,180,214 (GRCm39) K180E probably benign Het
Dus1l G A 11: 120,683,918 (GRCm39) R177C possibly damaging Het
Egfr A G 11: 16,813,020 (GRCm39) I167V probably damaging Het
Fam219b A T 9: 57,445,305 (GRCm39) probably null Het
Fn1 T C 1: 71,665,369 (GRCm39) E916G probably damaging Het
Gm2058 C T 7: 39,238,580 (GRCm39) noncoding transcript Het
Gpd1 T A 15: 99,616,056 (GRCm39) V22E probably damaging Het
Hsf2 T C 10: 57,377,475 (GRCm39) F124L probably damaging Het
I0C0044D17Rik A G 4: 98,708,336 (GRCm39) probably benign Het
Igfbp3 A T 11: 7,158,478 (GRCm39) F262I possibly damaging Het
Klhl18 A G 9: 110,284,501 (GRCm39) Y62H probably damaging Het
Lama2 C T 10: 27,064,268 (GRCm39) E1238K probably benign Het
Man1b1 A G 2: 25,228,239 (GRCm39) K170E probably benign Het
Mcrs1 A T 15: 99,147,382 (GRCm39) I39N probably damaging Het
Mug2 T C 6: 122,026,587 (GRCm39) probably benign Het
Neu3 C A 7: 99,462,629 (GRCm39) G365W probably damaging Het
Nipal3 A C 4: 135,199,194 (GRCm39) probably null Het
Nrxn3 A G 12: 89,221,804 (GRCm39) I528V possibly damaging Het
Or10al6 A T 17: 38,082,730 (GRCm39) H71L possibly damaging Het
Osbpl8 A G 10: 111,103,608 (GRCm39) K204R probably damaging Het
Pax8 A G 2: 24,325,931 (GRCm39) S318P possibly damaging Het
Pcdh18 T A 3: 49,710,590 (GRCm39) N242Y probably damaging Het
Pkd1l2 T A 8: 117,786,259 (GRCm39) K649* probably null Het
Ppm1n A T 7: 19,013,179 (GRCm39) D257E probably benign Het
Pxdn A G 12: 30,052,796 (GRCm39) E811G probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rreb1 T C 13: 38,115,010 (GRCm39) C790R probably damaging Het
Rtkn2 G T 10: 67,861,349 (GRCm39) C258F possibly damaging Het
Scn11a G A 9: 119,613,227 (GRCm39) probably benign Het
Snx8 G A 5: 140,343,851 (GRCm39) R96C probably damaging Het
Syne2 A T 12: 76,107,000 (GRCm39) T5649S possibly damaging Het
Tm2d3 T A 7: 65,344,970 (GRCm39) C82* probably null Het
Tnpo2 T C 8: 85,767,155 (GRCm39) L55P probably damaging Het
Tsc22d2 T C 3: 58,324,836 (GRCm39) probably benign Het
Ttll3 T G 6: 113,371,690 (GRCm39) V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 (GRCm39) I86V probably benign Het
Vps13d G A 4: 144,814,892 (GRCm39) T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 (GRCm39) I753T probably damaging Het
Other mutations in Cox6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Cox6a1 APN 5 115,483,898 (GRCm39) unclassified probably benign
IGL01341:Cox6a1 APN 5 115,483,898 (GRCm39) unclassified probably benign
IGL01373:Cox6a1 APN 5 115,483,898 (GRCm39) unclassified probably benign
IGL01874:Cox6a1 APN 5 115,483,904 (GRCm39) makesense probably null
R2256:Cox6a1 UTSW 5 115,486,907 (GRCm39) missense possibly damaging 0.48
R8399:Cox6a1 UTSW 5 115,483,958 (GRCm39) missense probably damaging 0.98
R9602:Cox6a1 UTSW 5 115,486,934 (GRCm39) missense unknown
Z1176:Cox6a1 UTSW 5 115,483,967 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16