Mutagenetix > Incidental Mutation

Incidental Mutation 'R5161:Coa8'

397012

Institutional Source

Beutler Lab

Gene Symbol

Coa8

Ensembl Gene

ENSMUSG00000037787

Gene Name

cytochrome c oxidase assembly factor 8

Synonyms

Apopt1, 1700081D05Rik, 2810002N01Rik, Apop-1

MMRRC Submission

042743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111679695-111721487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111689208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 97 (Q97K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040519] [ENSMUST00000159557] [ENSMUST00000162316] [ENSMUST00000163220]

AlphaFold

Q9CQW7

Predicted Effect

probably benign
Transcript: ENSMUST00000040519
AA Change: Q97K

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038865
Gene: ENSMUSG00000037787
AA Change: Q97K

Domain	Start	End	E-Value	Type
Pfam:DUF2315	54	182	5.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159897

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160366
AA Change: Q97K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123929
Gene: ENSMUSG00000037787
AA Change: Q97K

Domain	Start	End	E-Value	Type
Pfam:DUF2315	53	162	3.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162316
AA Change: Q97K

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125711
Gene: ENSMUSG00000037787
AA Change: Q97K

Domain	Start	End	E-Value	Type
Pfam:DUF2315	53	130	7.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163220
AA Change: Q97K

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131169
Gene: ENSMUSG00000037787
AA Change: Q97K

Domain	Start	End	E-Value	Type
Pfam:DUF2315	54	162	3.7e-46	PFAM

Meta Mutation Damage Score

0.1419

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,055,344 (GRCm39)	E27*	probably null	Het
4930407I10Rik	G	T	15: 81,947,542 (GRCm39)	E480*	probably null	Het
Acad11	T	C	9: 104,001,227 (GRCm39)	I591T	probably benign	Het
Acsbg3	A	T	17: 57,189,888 (GRCm39)	I305F	possibly damaging	Het
Adamts13	G	A	2: 26,883,020 (GRCm39)	E857K	probably benign	Het
Atf2	A	C	2: 73,660,134 (GRCm39)		probably null	Het
Cass4	C	A	2: 172,274,244 (GRCm39)	A675E	probably damaging	Het
Ctsd	A	T	7: 141,930,881 (GRCm39)	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,505,296 (GRCm39)	M1K	probably null	Het
Dipk1b	C	T	2: 26,526,260 (GRCm39)	T398M	possibly damaging	Het
Dock1	G	A	7: 134,335,791 (GRCm39)	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,748,207 (GRCm39)	D407G	possibly damaging	Het
Eif1ad17	T	A	12: 87,978,887 (GRCm39)	D90E	possibly damaging	Het
Eml6	A	G	11: 29,974,467 (GRCm39)	V37A	probably damaging	Het
Fam20a	C	T	11: 109,564,196 (GRCm39)	R519Q	probably benign	Het
Fat1	A	G	8: 45,405,549 (GRCm39)	T767A	probably benign	Het
Fbxl8	A	T	8: 105,995,538 (GRCm39)	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,910,834 (GRCm39)	Q23P	possibly damaging	Het
Gm38706	A	T	6: 130,459,868 (GRCm39)		noncoding transcript	Het
Gpatch2l	G	T	12: 86,313,950 (GRCm39)	R362L	probably benign	Het
Hyal5	A	T	6: 24,891,602 (GRCm39)	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,699,777 (GRCm39)	S102G	possibly damaging	Het
Itpripl1	A	C	2: 126,983,777 (GRCm39)	L115R	probably damaging	Het
Itsn1	G	A	16: 91,705,726 (GRCm39)	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,348,349 (GRCm39)	C12S	probably benign	Het
Macroh2a1	T	C	13: 56,237,594 (GRCm39)	D222G	probably benign	Het
Muc4	G	A	16: 32,582,895 (GRCm39)	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,458,936 (GRCm39)	Q1996K	probably benign	Het
Obscn	T	C	11: 58,919,430 (GRCm39)	E6205G	probably damaging	Het
Obscn	A	G	11: 58,955,136 (GRCm39)	Y3926H	possibly damaging	Het
Or14a259	T	C	7: 86,013,546 (GRCm39)		probably null	Het
Or5an10	A	T	19: 12,276,153 (GRCm39)	S114R	probably damaging	Het
P2ry2	A	T	7: 100,648,136 (GRCm39)	Y56*	probably null	Het
Pate10	T	A	9: 35,652,884 (GRCm39)	L42*	probably null	Het
Pde1a	T	C	2: 79,708,488 (GRCm39)	N242S	probably null	Het
Pik3cg	C	T	12: 32,254,977 (GRCm39)	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,433,712 (GRCm39)	N587S	probably benign	Het
Pmpca	T	C	2: 26,285,183 (GRCm39)		probably null	Het
Ptpn4	C	T	1: 119,635,593 (GRCm39)	W370*	probably null	Het
Qki	A	T	17: 10,434,419 (GRCm39)		probably null	Het
Rapgef3	A	G	15: 97,655,606 (GRCm39)	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,855,171 (GRCm39)	D465E	probably damaging	Het
Scn2a	A	G	2: 65,594,935 (GRCm39)	K1928R	probably benign	Het
Slc5a5	A	C	8: 71,341,492 (GRCm39)	C346G	probably damaging	Het
Spata2l	A	G	8: 123,962,288 (GRCm39)	L91P	probably damaging	Het
Syt3	C	A	7: 44,045,439 (GRCm39)	H560N	possibly damaging	Het
Timm23	G	A	14: 31,915,882 (GRCm39)	P63L	probably damaging	Het
Tmem191	T	C	16: 17,094,743 (GRCm39)	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,059,367 (GRCm39)	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Usp17ld	A	T	7: 102,899,579 (GRCm39)	L451*	probably null	Het
Vmn1r15	T	C	6: 57,235,497 (GRCm39)	Y122H	probably benign	Het
Vxn	G	T	1: 9,692,902 (GRCm39)	G145*	probably null	Het
Zfp1002	A	T	2: 150,097,135 (GRCm39)	I98K	probably damaging	Het

Other mutations in Coa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5376:Coa8	UTSW	12	111,696,492 (GRCm39)	missense	probably damaging	0.96
R5864:Coa8	UTSW	12	111,717,652 (GRCm39)	missense	probably benign	0.03
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'- CGTTAAAGGTCTCAAGATTCTGC -3'
(R):5'- CACAGGATCTCAGTATACATAGTGACC -3'

Sequencing Primer
(F):5'- AAAGGTCTCAAGATTCTGCCCTCC -3'
(R):5'- GACTGGCCTTGAACTAGAGATTCTC -3'

Posted On

2016-06-21