Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Coq8a'

378012

Institutional Source

Beutler Lab

Gene Symbol

Coq8a

Ensembl Gene

ENSMUSG00000026489

Gene Name

coenzyme Q8A

Synonyms

Cabc1, Adck3, 4632432J16Rik

MMRRC Submission

042507-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R4904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179992803-180023585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 180006168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 207 (R207Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027766] [ENSMUST00000159914] [ENSMUST00000160102] [ENSMUST00000160121] [ENSMUST00000160169] [ENSMUST00000160482] [ENSMUST00000161300] [ENSMUST00000170472] [ENSMUST00000161379] [ENSMUST00000161746] [ENSMUST00000161632] [ENSMUST00000161814] [ENSMUST00000162725] [ENSMUST00000161743] [ENSMUST00000160879] [ENSMUST00000162769]

AlphaFold

Q60936

Predicted Effect

probably damaging
Transcript: ENSMUST00000027766
AA Change: R207Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
AA Change: R207Q

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

noncoding transcript
Transcript: ENSMUST00000159591

Predicted Effect

probably benign
Transcript: ENSMUST00000159914

SMART Domains

Protein: ENSMUSP00000123720
Gene: ENSMUSG00000026489

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160102

SMART Domains

Protein: ENSMUSP00000124289
Gene: ENSMUSG00000026489

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160121

SMART Domains

Protein: ENSMUSP00000124208
Gene: ENSMUSG00000026489

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

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: ENSMUST00000160482

SMART Domains

Protein: ENSMUSP00000124329
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 damaging
Transcript: ENSMUST00000161300
AA Change: R10Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125002
Gene: ENSMUSG00000026489
AA Change: R10Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170472
AA Change: R207Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
AA Change: R207Q

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: ENSMUST00000161379

Predicted Effect

probably benign
Transcript: ENSMUST00000161746

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: ENSMUST00000161814

SMART Domains

Protein: ENSMUSP00000125071
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: ENSMUST00000162725

SMART Domains

Protein: ENSMUSP00000125024
Gene: ENSMUSG00000026489

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161743

SMART Domains

Protein: ENSMUSP00000123905
Gene: ENSMUSG00000026489

Domain	Start	End	E-Value	Type
low complexity region	30	43	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: ENSMUST00000162769

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 129,906,332 (GRCm39)	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,871,786 (GRCm39)	I556T	probably benign	Het
Ankfy1	C	A	11: 72,642,931 (GRCm39)	H665N	probably benign	Het
Aqp9	A	C	9: 71,069,685 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,854,872 (GRCm39)	S1497P	probably benign	Het
Armc7	A	G	11: 115,379,800 (GRCm39)	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,816,676 (GRCm39)	V167F	possibly damaging	Het
Col6a3	A	T	1: 90,729,164 (GRCm39)	I1259N	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcbld1	C	T	10: 52,196,066 (GRCm39)	Q425*	probably null	Het
Def8	A	G	8: 124,188,219 (GRCm39)	N445D	probably damaging	Het
Dicer1	C	T	12: 104,679,325 (GRCm39)	V551I	probably benign	Het
Dst	A	T	1: 34,208,879 (GRCm39)	T800S	probably damaging	Het
Dtl	A	T	1: 191,300,457 (GRCm39)	C136S	probably damaging	Het
Duox1	T	A	2: 122,151,345 (GRCm39)	Y310N	probably damaging	Het
Duxf1	T	A	10: 58,059,309 (GRCm39)	R482*	probably null	Het
Ebf1	T	C	11: 44,759,996 (GRCm39)	F211S	probably damaging	Het
Gm44501	A	T	17: 40,889,884 (GRCm39)	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,873,379 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,713,748 (GRCm39)	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	G	A	17: 88,997,471 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,234 (GRCm39)	F2471L	probably damaging	Het
Hfe	A	T	13: 23,892,037 (GRCm39)	I109N	probably damaging	Het
Hrg	A	G	16: 22,770,000 (GRCm39)	E43G	probably benign	Het
Hspa1a	T	C	17: 35,189,427 (GRCm39)	D492G	probably damaging	Het
Itgb8	T	C	12: 119,134,606 (GRCm39)	D487G	probably benign	Het
Jag1	A	G	2: 136,929,062 (GRCm39)	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,494,324 (GRCm39)	V501A	probably damaging	Het
Kntc1	T	C	5: 123,916,396 (GRCm39)	V743A	possibly damaging	Het
Ly86	G	T	13: 37,599,496 (GRCm39)	V126F	possibly damaging	Het
Med26	A	T	8: 73,250,691 (GRCm39)	L136H	probably damaging	Het
Mpp3	T	C	11: 101,891,413 (GRCm39)	D575G	probably benign	Het
Myoc	G	A	1: 162,466,994 (GRCm39)	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,454 (GRCm39)		noncoding transcript	Het
Or10v9	C	T	19: 11,833,231 (GRCm39)	V29M	possibly damaging	Het
Or51t4	A	G	7: 102,598,272 (GRCm39)	Y190C	probably damaging	Het
Or5v1b	A	G	17: 37,841,522 (GRCm39)	Y218C	probably damaging	Het
Pak5	A	T	2: 135,925,267 (GRCm39)	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,570,909 (GRCm39)	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,802,932 (GRCm39)	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,398,105 (GRCm39)	M702L	probably benign	Het
Pigq	A	G	17: 26,150,034 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ptch1	A	C	13: 63,670,818 (GRCm39)	I904S	probably damaging	Het
Rflnb	A	T	11: 75,912,964 (GRCm39)	C141*	probably null	Het
Rilpl1	C	A	5: 124,652,807 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,358,544 (GRCm39)	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,397,586 (GRCm39)	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,631,066 (GRCm39)	Y534S	probably damaging	Het
Sez6	A	G	11: 77,866,080 (GRCm39)	Y736C	probably damaging	Het
Shank1	G	T	7: 43,983,464 (GRCm39)		probably benign	Het
Slc45a4	G	A	15: 73,458,691 (GRCm39)	S294F	probably benign	Het
Slc9a8	A	G	2: 167,313,316 (GRCm39)	I393V	possibly damaging	Het
Sod1	T	A	16: 90,019,732 (GRCm39)	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Syn3	T	G	10: 86,302,950 (GRCm39)	K68N	possibly damaging	Het
Taar8c	C	T	10: 23,977,147 (GRCm39)	V222I	probably benign	Het
Tbx20	T	C	9: 24,670,129 (GRCm39)	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,570,931 (GRCm39)	E274*	probably null	Het
Tll1	A	T	8: 64,523,233 (GRCm39)	M493K	probably benign	Het
Tmem236	T	A	2: 14,200,803 (GRCm39)	S123T	probably benign	Het
Trim33	T	C	3: 103,238,963 (GRCm39)	V647A	possibly damaging	Het
Tspear	T	A	10: 77,705,489 (GRCm39)	Y296N	possibly damaging	Het
Vps13d	T	C	4: 144,882,015 (GRCm39)	K1187E	probably damaging	Het
Xpot	C	T	10: 121,453,083 (GRCm39)	V52I	probably benign	Het
Zdhhc3	A	T	9: 122,929,452 (GRCm39)	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,461,162 (GRCm39)	C323*	probably null	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
R1421:Coq8a	UTSW	1	179,998,006 (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
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'- CACTCAGCAGCTACTTCATGGG -3'
(R):5'- AACCTCCCATGCTGTGACTTTAG -3'

Sequencing Primer
(F):5'- GCAACATGGCCATATACCACC -3'
(R):5'- CCCATGCTGTGACTTTAGAAATACC -3'

Posted On

2016-04-15