Incidental Mutation 'IGL01341:Cox6a1'
ID278292
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox6a1
Ensembl Gene ENSMUSG00000041697
Gene Namecytochrome c oxidase subunit VIa polypeptide 1
Synonymssubunit VIaL (liver-type), VIaL
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.336) question?
Stock #IGL01341
Quality Score
Status
Chromosome5
Chromosomal Location115345642-115348981 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 115345839 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031508] [ENSMUST00000040154] [ENSMUST00000139167]
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,011,703 H3450Q probably benign Het
Arcn1 A G 9: 44,757,192 I249T possibly damaging Het
Arhgef5 G A 6: 43,283,991 R1450H probably damaging Het
Cdh26 A T 2: 178,457,447 D113V probably damaging Het
Cnot4 A G 6: 35,070,254 V141A probably damaging Het
Ctsll3 C T 13: 60,798,999 D269N probably benign Het
Dnttip2 T C 3: 122,276,612 I492T probably damaging Het
Gimap8 A G 6: 48,658,767 S489G probably damaging Het
Glra2 T C X: 165,324,566 D46G probably damaging Het
Gm7094 A G 1: 21,272,883 noncoding transcript Het
Gmps T C 3: 64,015,440 I608T probably damaging Het
Gzma A G 13: 113,093,884 probably benign Het
H2-Q4 T A 17: 35,383,002 V280E probably damaging Het
Jak1 C T 4: 101,175,093 G439S probably damaging Het
Kars T C 8: 111,994,974 I556V probably benign Het
Kifc2 T C 15: 76,662,898 probably null Het
Kit T C 5: 75,607,074 I39T probably damaging Het
Map3k6 G T 4: 133,248,060 R702L possibly damaging Het
Marveld3 T A 8: 109,948,417 T256S possibly damaging Het
Nkd1 G A 8: 88,591,552 probably benign Het
Olfr1109 T A 2: 87,093,299 I33L probably benign Het
Olfr805 G A 10: 129,722,878 T222I possibly damaging Het
Pax2 A G 19: 44,790,688 S167G probably damaging Het
Pdlim3 T A 8: 45,915,240 D258E probably benign Het
Ppip5k1 A T 2: 121,343,210 C393* probably null Het
Pxdn T C 12: 30,002,487 S888P probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Reln T A 5: 21,969,079 I2009F probably damaging Het
Sec23b T C 2: 144,585,733 S627P probably benign Het
Slc2a8 T A 2: 32,975,991 Q39L probably damaging Het
Tmem143 T C 7: 45,916,134 Y340H probably damaging Het
Ttn A G 2: 76,730,319 V29246A probably damaging Het
Wdr81 T C 11: 75,445,601 D1654G probably damaging Het
Zbtb11 T G 16: 55,990,931 L484R possibly damaging Het
Zcchc8 A G 5: 123,704,569 V367A probably benign Het
Other mutations in Cox6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Cox6a1 APN 5 115345839 unclassified probably benign
IGL01339:Cox6a1 APN 5 115345839 unclassified probably benign
IGL01373:Cox6a1 APN 5 115345839 unclassified probably benign
IGL01874:Cox6a1 APN 5 115345845 makesense probably null
R2256:Cox6a1 UTSW 5 115348848 missense possibly damaging 0.48
R8399:Cox6a1 UTSW 5 115345899 missense probably damaging 0.98
Z1176:Cox6a1 UTSW 5 115345908 missense probably damaging 1.00
Posted On2015-04-16