Incidental Mutation 'IGL00578:Cox8a'
ID 332689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox8a
Ensembl Gene ENSMUSG00000035885
Gene Name cytochrome c oxidase subunit 8A
Synonyms COX VIII-L, COX8L
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00578
Quality Score
Status
Chromosome 19
Chromosomal Location 7192523-7194981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7192770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 65 (Y65F)
Ref Sequence ENSEMBL: ENSMUSP00000040717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039758]
AlphaFold Q64445
Predicted Effect probably damaging
Transcript: ENSMUST00000039758
AA Change: Y65F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040717
Gene: ENSMUSG00000035885
AA Change: Y65F

DomainStartEndE-ValueType
Pfam:COX8 26 68 1.4e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,821,787 (GRCm39) T729A possibly damaging Het
Ank3 C A 10: 69,838,224 (GRCm39) S864Y possibly damaging Het
Ankrd44 G A 1: 54,701,806 (GRCm39) probably benign Het
Atp11c C T X: 59,286,177 (GRCm39) G996R probably damaging Het
Col11a1 A G 3: 113,987,755 (GRCm39) T250A possibly damaging Het
Ctnnd1 G T 2: 84,439,969 (GRCm39) N451K probably damaging Het
D630045J12Rik T C 6: 38,171,865 (GRCm39) T768A probably benign Het
Esyt1 A G 10: 128,347,612 (GRCm39) S999P probably damaging Het
Fyco1 A G 9: 123,667,962 (GRCm39) I88T probably damaging Het
Kdm2b A G 5: 123,099,630 (GRCm39) V103A probably damaging Het
Klk1b26 T C 7: 43,666,309 (GRCm39) S251P probably benign Het
Krtap16-1 A G 11: 99,876,121 (GRCm39) S428P probably benign Het
Lrp1b C T 2: 40,569,185 (GRCm39) V210I unknown Het
Mapk8ip3 A T 17: 25,119,793 (GRCm39) D1018E probably damaging Het
Nxph2 T A 2: 23,290,334 (GRCm39) C229S probably damaging Het
Prickle1 A G 15: 93,398,662 (GRCm39) L722P probably benign Het
Rbm12 A T 2: 155,937,961 (GRCm39) probably benign Het
Rimoc1 C A 15: 4,018,118 (GRCm39) G186C probably damaging Het
Sfpq T C 4: 126,919,700 (GRCm39) Y482H probably damaging Het
Sycp2 T C 2: 177,992,615 (GRCm39) probably benign Het
Unc5b A G 10: 60,602,834 (GRCm39) I866T probably damaging Het
Other mutations in Cox8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0055:Cox8a UTSW 19 7,194,874 (GRCm39) missense probably damaging 0.98
R0145:Cox8a UTSW 19 7,192,783 (GRCm39) missense probably benign 0.18
R6084:Cox8a UTSW 19 7,194,783 (GRCm39) missense possibly damaging 0.75
R8204:Cox8a UTSW 19 7,192,845 (GRCm39) missense probably benign 0.03
Posted On 2015-08-05