Incidental Mutation 'R5864:Coa8'
ID 454085
Institutional Source Beutler Lab
Gene Symbol Coa8
Ensembl Gene ENSMUSG00000037787
Gene Name cytochrome c oxidase assembly factor 8
Synonyms Apopt1, 1700081D05Rik, 2810002N01Rik, Apop-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5864 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 111679695-111721487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111717652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 171 (V171I)
Ref Sequence ENSEMBL: ENSMUSP00000131169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163220]
AlphaFold Q9CQW7
Predicted Effect probably benign
Transcript: ENSMUST00000160366
AA Change: V171I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123929
Gene: ENSMUSG00000037787
AA Change: V171I

DomainStartEndE-ValueType
Pfam:DUF2315 53 162 3.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163220
AA Change: V171I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131169
Gene: ENSMUSG00000037787
AA Change: V171I

DomainStartEndE-ValueType
Pfam:DUF2315 54 162 3.7e-46 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A T 12: 84,090,178 (GRCm39) I292F probably benign Het
Adamdec1 A G 14: 68,807,551 (GRCm39) S370P probably damaging Het
Ankar T C 1: 72,698,324 (GRCm39) K692R probably benign Het
Ano6 T C 15: 95,818,261 (GRCm39) probably null Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Bbs12 C T 3: 37,373,639 (GRCm39) T144I probably damaging Het
C8g C T 2: 25,388,955 (GRCm39) G186D probably damaging Het
Clptm1l T C 13: 73,754,403 (GRCm39) F109S probably damaging Het
Col4a1 G A 8: 11,252,973 (GRCm39) probably benign Het
Cpn2 T C 16: 30,078,501 (GRCm39) D400G probably damaging Het
Dgke G C 11: 88,941,288 (GRCm39) Y298* probably null Het
Dnah5 G A 15: 28,297,159 (GRCm39) R1451Q possibly damaging Het
Dock8 A G 19: 25,038,584 (GRCm39) D90G probably damaging Het
Dok7 A C 5: 35,223,890 (GRCm39) D143A probably damaging Het
Elk3 G A 10: 93,120,653 (GRCm39) A62V probably damaging Het
Epha2 T A 4: 141,035,738 (GRCm39) M58K probably damaging Het
Erp27 G T 6: 136,885,098 (GRCm39) D233E probably benign Het
Gm5174 T A 10: 86,493,045 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,107 (GRCm39) D214G probably damaging Het
Hrob G A 11: 102,145,972 (GRCm39) E83K probably benign Het
Ifi35 A T 11: 101,349,069 (GRCm39) I238F probably damaging Het
Ighmbp2 T C 19: 3,311,467 (GRCm39) T983A probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Lrp1 C A 10: 127,403,374 (GRCm39) K2066N possibly damaging Het
Mansc1 T G 6: 134,587,816 (GRCm39) probably null Het
Mapre3 T C 5: 31,020,582 (GRCm39) F101S probably damaging Het
Mettl8 T C 2: 70,812,357 (GRCm39) T58A probably benign Het
Mical1 G T 10: 41,362,064 (GRCm39) R857L possibly damaging Het
Nacad T C 11: 6,550,581 (GRCm39) D870G probably benign Het
Nectin1 A G 9: 43,702,607 (GRCm39) D118G probably damaging Het
Nlrp2 A T 7: 5,325,380 (GRCm39) L26Q probably damaging Het
Or10a3m A G 7: 108,312,671 (GRCm39) D25G probably benign Het
Pamr1 T C 2: 102,464,693 (GRCm39) S281P possibly damaging Het
Pcdhgc5 T A 18: 37,954,814 (GRCm39) V696E probably damaging Het
Pde4d G T 13: 110,074,582 (GRCm39) A396S probably benign Het
Pecam1 G T 11: 106,575,076 (GRCm39) C510* probably null Het
Pga5 C T 19: 10,652,513 (GRCm39) G76S probably damaging Het
Phldb3 A T 7: 24,323,571 (GRCm39) H435L possibly damaging Het
Piezo1 T C 8: 123,213,112 (GRCm39) R1884G possibly damaging Het
Ripk4 T C 16: 97,564,782 (GRCm39) H43R probably damaging Het
Rtn3 A G 19: 7,412,476 (GRCm39) V785A probably damaging Het
Safb2 A G 17: 56,873,491 (GRCm39) probably benign Het
Sephs1 T C 2: 4,910,393 (GRCm39) F288L probably damaging Het
Sez6l A G 5: 112,586,266 (GRCm39) probably null Het
Siglece A G 7: 43,308,741 (GRCm39) L204P probably damaging Het
Sis T C 3: 72,857,151 (GRCm39) D380G probably damaging Het
Slamf9 G T 1: 172,304,033 (GRCm39) R126L probably benign Het
Sorl1 A G 9: 42,003,669 (GRCm39) L209P probably damaging Het
Sptbn1 A C 11: 30,095,925 (GRCm39) I310S probably damaging Het
Tex52 A G 6: 128,356,645 (GRCm39) T113A probably benign Het
Trav6-3 T A 14: 53,667,628 (GRCm39) Y33* probably null Het
Vmn2r102 A G 17: 19,914,943 (GRCm39) E836G possibly damaging Het
Wdsub1 C T 2: 59,708,819 (GRCm39) C18Y probably damaging Het
Zfp341 C A 2: 154,485,474 (GRCm39) H637N possibly damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zfp612 G A 8: 110,816,358 (GRCm39) D522N probably damaging Het
Other mutations in Coa8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02383:Coa8 APN 12 111,690,847 (GRCm39) splice site probably benign
R0336:Coa8 UTSW 12 111,700,092 (GRCm39) intron probably benign
R2324:Coa8 UTSW 12 111,690,784 (GRCm39) missense possibly damaging 0.87
R4436:Coa8 UTSW 12 111,717,642 (GRCm39) missense probably benign 0.03
R4774:Coa8 UTSW 12 111,679,823 (GRCm39) missense possibly damaging 0.66
R5161:Coa8 UTSW 12 111,689,208 (GRCm39) missense possibly damaging 0.55
R5376:Coa8 UTSW 12 111,696,492 (GRCm39) missense probably damaging 0.96
R6802:Coa8 UTSW 12 111,717,625 (GRCm39) missense probably benign 0.00
R8095:Coa8 UTSW 12 111,689,218 (GRCm39) missense probably damaging 1.00
R9003:Coa8 UTSW 12 111,688,189 (GRCm39) makesense probably null
R9611:Coa8 UTSW 12 111,700,108 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGACCCCTCTTCTACACTGTG -3'
(R):5'- TCCGACCTTAGTCAGAACATG -3'

Sequencing Primer
(F):5'- GTGGACCCCGATTTCCTCTTAGAG -3'
(R):5'- CCGACCTTAGTCAGAACATGTTTTG -3'
Posted On 2017-02-10