Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01873:Coq8a'

178781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Coq8a

Ensembl Gene

ENSMUSG00000026489

Gene Name

coenzyme Q8A

Synonyms

Cabc1, Adck3, 4632432J16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

IGL01873

Quality Score

Status

Chromosome

Chromosomal Location

179992803-180023585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180006542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 115 (Q115L)

Ref Sequence

ENSEMBL: ENSMUSP00000124481 (fasta)

Gene Model

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

AlphaFold

Q60936

Predicted Effect

probably benign
Transcript: ENSMUST00000027766
AA Change: Q162L

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
AA Change: Q162L

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 benign
Transcript: ENSMUST00000170472
AA Change: Q162L

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
AA Change: Q162L

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 damaging
Transcript: ENSMUST00000161632
AA Change: Q115L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124481
Gene: ENSMUSG00000026489
AA Change: Q115L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162769

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: ENSMUST00000161379

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: ENSMUST00000161746

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: 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: ENSMUST00000161743

SMART Domains

Protein: ENSMUSP00000123905
Gene: ENSMUSG00000026489

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

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chd9	A	G	8: 91,660,395 (GRCm39)	T452A	probably benign	Het
Cul9	T	C	17: 46,813,378 (GRCm39)	E2326G	probably damaging	Het
Cyp2c69	A	G	19: 39,869,693 (GRCm39)		probably benign	Het
Dennd5b	A	T	6: 148,946,027 (GRCm39)	M528K	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gm6665	T	C	18: 31,953,355 (GRCm39)	S38G	probably damaging	Het
Gsg1l	A	G	7: 125,557,615 (GRCm39)	V171A	probably damaging	Het
Ighv5-2	A	T	12: 113,542,350 (GRCm39)	S42T	probably benign	Het
Itch	C	T	2: 155,010,670 (GRCm39)	T46I	possibly damaging	Het
Itsn2	T	G	12: 4,682,366 (GRCm39)		probably benign	Het
Lime1	T	C	2: 181,024,667 (GRCm39)	V107A	probably benign	Het
Mertk	T	C	2: 128,571,195 (GRCm39)	S50P	possibly damaging	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nckap1	A	T	2: 80,383,729 (GRCm39)	I145K	possibly damaging	Het
Ppp4r3a	A	T	12: 101,008,094 (GRCm39)	I794N	possibly damaging	Het
Psapl1	C	A	5: 36,362,569 (GRCm39)	P387Q	possibly damaging	Het
Ripk1	T	A	13: 34,193,707 (GRCm39)	L23Q	probably damaging	Het
Srrm4	G	T	5: 116,729,527 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,437 (GRCm39)	T376S	probably damaging	Het
Tmem74	T	C	15: 43,730,782 (GRCm39)	D87G	probably benign	Het
Trav19	A	G	14: 54,083,173 (GRCm39)	R83G	probably benign	Het
Tubgcp4	T	C	2: 121,018,665 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfat	T	C	15: 68,096,744 (GRCm39)	N23S	probably benign	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
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
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

Posted On

2014-05-07