Mutagenetix > Incidental Mutation

Incidental Mutation 'R1421:Coq8a'

159800

Institutional Source

Beutler Lab

Gene Symbol

Coq8a

Ensembl Gene

ENSMUSG00000026489

Gene Name

coenzyme Q8A

Synonyms

Cabc1, Adck3, 4632432J16Rik

MMRRC Submission

039477-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R1421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179992803-180023585 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 179998006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027766] [ENSMUST00000111117] [ENSMUST00000160169] [ENSMUST00000160879] [ENSMUST00000161300] [ENSMUST00000170472] [ENSMUST00000161632] [ENSMUST00000162769]

AlphaFold

Q60936

Predicted Effect

probably benign
Transcript: ENSMUST00000027766

SMART Domains

Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	91	110	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:ABC1	315	431	5.4e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111117

SMART Domains

Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
low complexity region	484	499	N/A	INTRINSIC
Pfam:KELK	529	608	1.1e-32	PFAM
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.6e-29	PFAM
C1	1013	1062	4.09e-7	SMART
PH	1083	1203	6.02e-8	SMART
CNH	1228	1505	3.37e-17	SMART
low complexity region	1550	1562	N/A	INTRINSIC
PBD	1571	1606	2.05e-10	SMART
low complexity region	1625	1640	N/A	INTRINSIC
low complexity region	1661	1674	N/A	INTRINSIC
low complexity region	1700	1714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143176

SMART Domains

Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
Pfam:DMPK_coil	84	144	1.3e-29	PFAM
C1	203	252	4.09e-7	SMART
PH	273	393	6.02e-8	SMART
CNH	418	695	3.37e-17	SMART
low complexity region	740	752	N/A	INTRINSIC
PBD	761	796	1.02e-5	SMART
PBD	802	839	2.21e-1	SMART
low complexity region	877	892	N/A	INTRINSIC
low complexity region	913	926	N/A	INTRINSIC
low complexity region	952	966	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159591

Predicted Effect

probably benign
Transcript: ENSMUST00000160169

SMART Domains

Protein: ENSMUSP00000125089
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	91	110	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160879

SMART Domains

Protein: ENSMUSP00000141948
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161300

SMART Domains

Protein: ENSMUSP00000125002
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:ABC1	93	187	5.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170472

SMART Domains

Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	91	110	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:ABC1	315	431	5.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161632

SMART Domains

Protein: ENSMUSP00000124481
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
low complexity region	44	63	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162769

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,923 (GRCm39)	T1344A	probably benign	Het
Abcf1	G	A	17: 36,271,801 (GRCm39)	A375V	probably damaging	Het
Adam20	T	A	8: 41,249,784 (GRCm39)	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,391,516 (GRCm39)	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,643,389 (GRCm39)	I717T	possibly damaging	Het
Ahnak	T	A	19: 8,992,995 (GRCm39)	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,811,266 (GRCm39)	K122R	probably benign	Het
Arhgap5	T	C	12: 52,563,631 (GRCm39)	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,714,080 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,291 (GRCm39)	I331K	probably damaging	Het
Crebbp	A	G	16: 3,942,511 (GRCm39)	V662A	probably damaging	Het
Cspg4	T	A	9: 56,803,910 (GRCm39)	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,580,032 (GRCm39)		probably benign	Het
Dnajc6	A	T	4: 101,468,513 (GRCm39)	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011 (GRCm39)	M133K	probably benign	Het
Emb	T	C	13: 117,408,624 (GRCm39)	Y322H	probably benign	Het
Gcm1	A	T	9: 77,966,982 (GRCm39)	H67L	probably damaging	Het
Gls2	A	T	10: 128,037,217 (GRCm39)	K253*	probably null	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Gm43302	T	C	5: 105,365,215 (GRCm39)	T598A	probably benign	Het
Gramd1a	T	A	7: 30,842,291 (GRCm39)	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,960 (GRCm39)	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,625,563 (GRCm39)		noncoding transcript	Het
Ifitm2	T	C	7: 140,534,972 (GRCm39)	I121V	probably benign	Het
Insyn2a	A	T	7: 134,500,960 (GRCm39)		probably benign	Het
Kptn	T	G	7: 15,856,949 (GRCm39)		probably benign	Het
L2hgdh	C	T	12: 69,748,092 (GRCm39)	D345N	probably benign	Het
Lgals12	T	C	19: 7,584,079 (GRCm39)	H6R	probably benign	Het
Lrrc4b	A	G	7: 44,110,475 (GRCm39)	I116V	probably benign	Het
Misp	A	G	10: 79,662,681 (GRCm39)	D366G	probably damaging	Het
Nav1	T	C	1: 135,512,748 (GRCm39)	E104G	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Parp1	T	C	1: 180,427,653 (GRCm39)		probably benign	Het
Pikfyve	G	A	1: 65,310,470 (GRCm39)	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,126,765 (GRCm39)		probably benign	Het
Prrc2b	C	T	2: 32,090,990 (GRCm39)	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,851,183 (GRCm39)	S360P	probably benign	Het
Slc6a12	T	A	6: 121,336,085 (GRCm39)	I352N	probably damaging	Het
Snx9	G	A	17: 5,952,759 (GRCm39)	G197D	probably benign	Het
Ston1	T	C	17: 88,943,221 (GRCm39)	V209A	probably benign	Het
Taf7l2	A	G	10: 115,949,343 (GRCm39)	V61A	probably damaging	Het
Tex36	A	T	7: 133,197,078 (GRCm39)		probably null	Het
Tnnt3	A	G	7: 142,065,103 (GRCm39)	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,285,440 (GRCm39)	F87I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr64	T	C	1: 175,594,716 (GRCm39)	I479T	possibly damaging	Het
Xrcc5	A	G	1: 72,349,636 (GRCm39)	N22D	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp735	C	A	11: 73,601,523 (GRCm39)	L156I	probably benign	Het
Zfp820	A	T	17: 22,038,861 (GRCm39)	Y156N	possibly damaging	Het

Other mutations in Coq8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Coq8a	APN	1	179,995,954 (GRCm39)	missense	probably benign	0.11
IGL01797:Coq8a	APN	1	179,997,284 (GRCm39)	splice site	probably null
IGL01873:Coq8a	APN	1	180,006,542 (GRCm39)	missense	probably damaging	1.00
R1148:Coq8a	UTSW	1	179,996,968 (GRCm39)	splice site	probably benign
R1743:Coq8a	UTSW	1	180,009,794 (GRCm39)	missense	probably benign	0.14
R4678:Coq8a	UTSW	1	179,997,646 (GRCm39)	missense	probably damaging	0.99
R4827:Coq8a	UTSW	1	179,994,903 (GRCm39)	missense	possibly damaging	0.46
R4904:Coq8a	UTSW	1	180,006,168 (GRCm39)	missense	probably damaging	1.00
R5716:Coq8a	UTSW	1	180,006,825 (GRCm39)	missense	possibly damaging	0.94
R5769:Coq8a	UTSW	1	180,006,681 (GRCm39)	missense	probably damaging	1.00
R6636:Coq8a	UTSW	1	180,006,552 (GRCm39)	missense	probably benign	0.00
R6991:Coq8a	UTSW	1	180,006,633 (GRCm39)	missense	probably benign	0.00
R7125:Coq8a	UTSW	1	179,996,366 (GRCm39)	missense	probably damaging	1.00
R7158:Coq8a	UTSW	1	180,006,749 (GRCm39)	missense	probably benign	0.00
R7161:Coq8a	UTSW	1	179,997,906 (GRCm39)	critical splice donor site	probably null
R8794:Coq8a	UTSW	1	180,006,773 (GRCm39)	missense	probably benign	0.00
R9277:Coq8a	UTSW	1	180,006,776 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTACCCTGATATGCACCCAGCTTG -3'
(R):5'- TGTGTTCATGATGGCCCATGCAG -3'

Sequencing Primer
(F):5'- AGCTTGCCCCACAGCTTG -3'
(R):5'- CATGCAGTGCCACATTAGG -3'

Posted On

2014-03-14