Incidental Mutation 'R0055:Cox8a'
ID 58998
Institutional Source Beutler Lab
Gene Symbol Cox8a
Ensembl Gene ENSMUSG00000035885
Gene Name cytochrome c oxidase subunit 8A
Synonyms COX VIII-L, COX8L
MMRRC Submission 038349-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0055 (G1)
Quality Score 116
Status Validated
Chromosome 19
Chromosomal Location 7192523-7194981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7194874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2 (S2T)
Ref Sequence ENSEMBL: ENSMUSP00000040717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039758]
AlphaFold Q64445
Predicted Effect probably damaging
Transcript: ENSMUST00000039758
AA Change: S2T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040717
Gene: ENSMUSG00000035885
AA Change: S2T

DomainStartEndE-ValueType
Pfam:COX8 26 68 1.4e-27 PFAM
Meta Mutation Damage Score 0.1618 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,547,057 (GRCm39) probably benign Het
Atp6v1h A T 1: 5,154,677 (GRCm39) T2S probably benign Het
Bcl11b G A 12: 107,932,036 (GRCm39) P179S probably benign Het
Cacna1a C T 8: 85,306,687 (GRCm39) probably benign Het
Ccdc146 C T 5: 21,502,004 (GRCm39) probably null Het
Ccdc61 T C 7: 18,626,461 (GRCm39) D128G probably damaging Het
Cd55 A G 1: 130,387,313 (GRCm39) probably benign Het
Cdk7 C A 13: 100,855,812 (GRCm39) E99* probably null Het
Cfap96 A T 8: 46,421,198 (GRCm39) S108R probably damaging Het
Cracdl A C 1: 37,663,337 (GRCm39) S854A probably benign Het
Dennd5a A G 7: 109,498,998 (GRCm39) I955T possibly damaging Het
Dop1a A C 9: 86,394,705 (GRCm39) E602A probably benign Het
Ephx4 T C 5: 107,560,944 (GRCm39) L32S probably damaging Het
Fbxo21 T A 5: 118,138,555 (GRCm39) D493E probably benign Het
Frmd4b A T 6: 97,300,610 (GRCm39) probably benign Het
Fzd1 A T 5: 4,806,037 (GRCm39) M515K possibly damaging Het
Gli2 A G 1: 118,818,138 (GRCm39) probably benign Het
Gm12887 T A 4: 121,473,666 (GRCm39) K61N probably damaging Het
Grin2a A T 16: 9,487,671 (GRCm39) V409D probably damaging Het
Grin2b T C 6: 135,900,201 (GRCm39) I227V probably benign Het
Helz2 T G 2: 180,870,614 (GRCm39) D2879A possibly damaging Het
Itpr2 T C 6: 146,224,631 (GRCm39) N1453S probably benign Het
Itpr3 C A 17: 27,317,296 (GRCm39) S817Y probably damaging Het
Lin7c T A 2: 109,726,798 (GRCm39) probably benign Het
Ly75 T C 2: 60,152,262 (GRCm39) E1097G probably benign Het
Mcm10 T C 2: 4,996,218 (GRCm39) N882D probably damaging Het
Mettl13 A T 1: 162,373,750 (GRCm39) L167Q probably damaging Het
Morn2 A T 17: 80,602,942 (GRCm39) M1L probably benign Het
Mybph G T 1: 134,121,590 (GRCm39) V88L probably damaging Het
Nefm T A 14: 68,358,648 (GRCm39) probably benign Het
Nf1 A G 11: 79,362,377 (GRCm39) E1497G probably damaging Het
Or2j3 T C 17: 38,615,702 (GRCm39) S217G possibly damaging Het
Or4k37 T A 2: 111,158,870 (GRCm39) Y35* probably null Het
Or51ah3 A G 7: 103,210,244 (GRCm39) K187E probably damaging Het
Or52e18 T A 7: 104,609,703 (GRCm39) T79S possibly damaging Het
Phf8-ps A T 17: 33,285,696 (GRCm39) W369R probably damaging Het
Plcd3 C G 11: 102,968,411 (GRCm39) W382S probably damaging Het
Plxna1 T A 6: 89,306,721 (GRCm39) I1370F possibly damaging Het
Qng1 T C 13: 58,531,980 (GRCm39) D192G probably damaging Het
Rarb G A 14: 16,509,066 (GRCm38) R106C probably damaging Het
Rps6ka5 G A 12: 100,644,839 (GRCm39) T37I probably damaging Het
Runx1 G T 16: 92,441,029 (GRCm39) probably benign Het
Scube1 A G 15: 83,518,937 (GRCm39) V301A probably damaging Het
Sema3a A T 5: 13,450,004 (GRCm39) N27I possibly damaging Het
Slc15a3 G T 19: 10,820,406 (GRCm39) E8* probably null Het
Slc22a5 T C 11: 53,782,032 (GRCm39) S112G probably benign Het
Slc25a45 T C 19: 5,930,495 (GRCm39) F3L probably damaging Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slfn10-ps A G 11: 82,921,126 (GRCm39) noncoding transcript Het
Slit2 C A 5: 48,439,068 (GRCm39) C1077* probably null Het
Spn A G 7: 126,735,494 (GRCm39) F82L possibly damaging Het
Tbccd1 A G 16: 22,660,655 (GRCm39) W54R probably damaging Het
Ucp1 G T 8: 84,017,233 (GRCm39) E8* probably null Het
Unc80 A T 1: 66,545,782 (GRCm39) probably benign Het
Vsnl1 A T 12: 11,436,987 (GRCm39) probably null Het
Zdhhc11 C T 13: 74,130,805 (GRCm39) Q295* probably null Het
Zfp457 T A 13: 67,442,098 (GRCm39) H63L probably damaging Het
Other mutations in Cox8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Cox8a APN 19 7,192,770 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ATGTCGCAGGCTACCACAGTTC -3'
(R):5'- TGGCTATGCGTGTCACTCTCGAAG -3'

Sequencing Primer
(F):5'- CACAGTTCGCCCACCTC -3'
(R):5'- GAGCAAAGGTGTCTCATTTCTC -3'
Posted On 2013-07-11