Mutagenetix > Incidental Mutation

Incidental Mutation 'R6802:Coa8'

533393

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

044915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R6802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111679695-111721487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111717625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 162 (G162W)

Ref Sequence

ENSEMBL: ENSMUSP00000131169 (fasta)

Gene Model

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

AlphaFold

Q9CQW7

Predicted Effect

probably benign
Transcript: ENSMUST00000163220
AA Change: G162W

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131169
Gene: ENSMUSG00000037787
AA Change: G162W

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (54/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 115,698,725 (GRCm39)	K38N	probably damaging	Het
Agap3	T	A	5: 24,692,791 (GRCm39)	I408N	possibly damaging	Het
Apold1	G	A	6: 134,960,693 (GRCm39)	R49H	probably damaging	Het
Arfgef1	A	T	1: 10,259,677 (GRCm39)	M597K	probably benign	Het
Bsn	C	T	9: 107,987,823 (GRCm39)		probably benign	Het
Ccdc177	A	T	12: 80,806,057 (GRCm39)	D72E	probably damaging	Het
Ctdp1	A	T	18: 80,463,656 (GRCm39)		probably null	Het
Ctsj	A	T	13: 61,150,888 (GRCm39)	L190M	probably benign	Het
Dhx57	A	G	17: 80,582,750 (GRCm39)	F285S	probably benign	Het
Dnah2	A	T	11: 69,314,516 (GRCm39)	V4051E	probably damaging	Het
F5	A	T	1: 164,006,925 (GRCm39)	D243V	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbxo30	G	T	10: 11,167,224 (GRCm39)	G649C	probably damaging	Het
Focad	T	C	4: 88,192,440 (GRCm39)	S590P	unknown	Het
Focad	G	A	4: 88,262,921 (GRCm39)	V973I	unknown	Het
Glb1l3	T	C	9: 26,770,648 (GRCm39)		probably null	Het
Gli2	G	A	1: 118,769,795 (GRCm39)	R586C	probably damaging	Het
Gm6401	T	A	14: 41,788,874 (GRCm39)	E65V	probably damaging	Het
Gml2	T	A	15: 74,696,095 (GRCm39)	L163H	probably damaging	Het
Grm6	A	T	11: 50,744,216 (GRCm39)	Q229L	probably benign	Het
Gtf2h2	T	C	13: 100,617,051 (GRCm39)	M252V	probably benign	Het
Hsf4	G	A	8: 106,001,300 (GRCm39)	G309S	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Irgq	A	G	7: 24,231,076 (GRCm39)	E89G	probably benign	Het
Kcnj6	T	C	16: 94,563,436 (GRCm39)	N354S	probably benign	Het
Lrguk	A	G	6: 34,039,392 (GRCm39)	H301R	probably damaging	Het
Mc4r	C	A	18: 66,992,488 (GRCm39)	M208I	probably benign	Het
Mrpl15	A	G	1: 4,846,953 (GRCm39)	S208P	probably benign	Het
Neil2	A	G	14: 63,429,263 (GRCm39)	F10S	probably damaging	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Or12k7	A	G	2: 36,958,427 (GRCm39)	M37V	probably benign	Het
Or4c100	A	G	2: 88,355,941 (GRCm39)	T5A	probably benign	Het
Or8k22	G	T	2: 86,163,529 (GRCm39)	T57K	possibly damaging	Het
Pacs1	T	C	19: 5,202,812 (GRCm39)	I357V	probably damaging	Het
Pla2g15	T	C	8: 106,877,213 (GRCm39)	L32P	probably damaging	Het
Pms1	A	T	1: 53,245,951 (GRCm39)	S529R	probably benign	Het
Prkra	A	T	2: 76,463,881 (GRCm39)	D260E	probably damaging	Het
Qsox1	A	C	1: 155,671,139 (GRCm39)	F127V	probably damaging	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Robo1	T	G	16: 72,730,201 (GRCm39)	V214G	probably benign	Het
Ryr2	G	A	13: 11,701,852 (GRCm39)	A2935V	probably damaging	Het
Sgtb	A	T	13: 104,268,558 (GRCm39)	Q198L	probably benign	Het
Slc39a12	C	T	2: 14,424,896 (GRCm39)	L376F	probably benign	Het
Socs1	C	A	16: 10,602,222 (GRCm39)	V172L	probably benign	Het
Sprr2k	A	G	3: 92,340,671 (GRCm39)		probably benign	Het
Tgm1	C	T	14: 55,949,939 (GRCm39)		probably benign	Het
Tph2	A	T	10: 115,020,778 (GRCm39)	M6K	probably damaging	Het
Trav16	T	A	14: 53,980,941 (GRCm39)	C43*	probably null	Het
Ttll5	A	G	12: 85,926,160 (GRCm39)	E318G	probably damaging	Het
Vmn2r90	T	A	17: 17,932,351 (GRCm39)	I86N	probably damaging	Het
Zdhhc19	T	C	16: 32,325,176 (GRCm39)	S165P	possibly damaging	Het
Zfp352	A	T	4: 90,113,437 (GRCm39)	T526S	probably benign	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
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
R5864:Coa8	UTSW	12	111,717,652 (GRCm39)	missense	probably benign	0.03
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'- AGGCTTGTGTTGTGAAAACTCC -3'
(R):5'- TGAGCATCCGACCTTAGTCAG -3'

Sequencing Primer
(F):5'- GTTGTGAAAACTCCATCATCCTCAG -3'
(R):5'- TTATGGCAGTAAAGTGCACCC -3'

Posted On

2018-09-12