Mutagenetix > Incidental Mutation

Incidental Mutation 'R5716:Coq8a'

451156

Institutional Source

Beutler Lab

Gene Symbol

Coq8a

Ensembl Gene

ENSMUSG00000026489

Gene Name

coenzyme Q8A

Synonyms

Cabc1, Adck3, 4632432J16Rik

MMRRC Submission

043187-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R5716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179992803-180023585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180006825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 21 (Y21N)

Ref Sequence

ENSEMBL: ENSMUSP00000124481 (fasta)

Gene Model

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

AlphaFold

Q60936

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027766
AA Change: Y68N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
AA Change: Y68N

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

possibly damaging
Transcript: ENSMUST00000159914
AA Change: Y68N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123720
Gene: ENSMUSG00000026489
AA Change: Y68N

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

possibly damaging
Transcript: ENSMUST00000160169
AA Change: Y68N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125089
Gene: ENSMUSG00000026489
AA Change: Y68N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160482
AA Change: Y68N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124329
Gene: ENSMUSG00000026489
AA Change: Y68N

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: ENSMUST00000161743
AA Change: Y68N

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123905
Gene: ENSMUSG00000026489
AA Change: Y68N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161632
AA Change: Y21N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124481
Gene: ENSMUSG00000026489
AA Change: Y21N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161814
AA Change: Y68N

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125071
Gene: ENSMUSG00000026489
AA Change: Y68N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162725
AA Change: Y68N

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125024
Gene: ENSMUSG00000026489
AA Change: Y68N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170472
AA Change: Y68N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
AA Change: Y68N

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: ENSMUST00000162769

Predicted Effect

probably benign
Transcript: ENSMUST00000161379

Predicted Effect

probably benign
Transcript: ENSMUST00000161746

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,594 (GRCm39)	V24A	possibly damaging	Het
Abca14	G	A	7: 119,846,217 (GRCm39)		probably null	Het
Acad12	A	G	5: 121,748,046 (GRCm39)	V124A	probably benign	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Bcar3	A	G	3: 122,306,564 (GRCm39)	E179G	probably damaging	Het
Brf2	A	G	8: 27,616,074 (GRCm39)	S104P	probably benign	Het
Cramp1	A	G	17: 25,193,709 (GRCm39)	F924L	probably damaging	Het
Dpyd	G	T	3: 118,692,828 (GRCm39)	C324F	probably damaging	Het
Eif4b	T	C	15: 101,990,494 (GRCm39)	Y33H	probably benign	Het
Fry	C	T	5: 150,293,686 (GRCm39)	Q460*	probably null	Het
Fryl	T	C	5: 73,257,808 (GRCm39)	I665V	probably benign	Het
Gpank1	A	G	17: 35,342,229 (GRCm39)	K90E	probably damaging	Het
Hexd	A	G	11: 121,112,388 (GRCm39)	I482V	probably benign	Het
Hmcn2	G	A	2: 31,226,579 (GRCm39)	E185K	probably damaging	Het
Hmcn2	A	G	2: 31,348,750 (GRCm39)	E4922G	possibly damaging	Het
Ino80d	A	T	1: 63,097,856 (GRCm39)	D679E	probably benign	Het
Kalrn	A	T	16: 33,807,546 (GRCm39)	C2608S	probably benign	Het
Kars1	T	A	8: 112,730,074 (GRCm39)		probably null	Het
Lcn2	A	G	2: 32,275,825 (GRCm39)	V211A	possibly damaging	Het
Lsmem1	A	T	12: 40,230,692 (GRCm39)	V70E	possibly damaging	Het
Med12l	T	C	3: 59,208,798 (GRCm39)		probably null	Het
Megf11	T	C	9: 64,413,392 (GRCm39)	F60L	possibly damaging	Het
Muc21	A	C	17: 35,931,675 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,100,596 (GRCm39)	H4438L	probably benign	Het
Nuf2	C	A	1: 169,349,958 (GRCm39)	V107F	probably benign	Het
Or14j6	A	T	17: 38,214,719 (GRCm39)	Y94F	probably benign	Het
Or6c8	T	A	10: 128,915,424 (GRCm39)	N136I	probably benign	Het
Or9i2	C	T	19: 13,816,003 (GRCm39)	C178Y	probably damaging	Het
Pabpn1l	A	G	8: 123,347,160 (GRCm39)	V215A	probably damaging	Het
Pnn	A	G	12: 59,118,658 (GRCm39)	I414V	probably benign	Het
Rab11fip3	A	G	17: 26,255,638 (GRCm39)	Y539H	probably damaging	Het
Rassf4	A	G	6: 116,638,828 (GRCm39)	V13A	probably benign	Het
Sephs1	T	C	2: 4,889,389 (GRCm39)	F56L	probably benign	Het
Sh3rf3	C	T	10: 58,967,105 (GRCm39)	P816S	probably benign	Het
Skint10	A	G	4: 112,568,844 (GRCm39)	L291P	probably damaging	Het
Thsd7a	T	A	6: 12,343,147 (GRCm39)	I1157L	probably benign	Het
Tmem184c	T	C	8: 78,333,036 (GRCm39)	H85R	possibly damaging	Het
Tmem94	T	C	11: 115,683,254 (GRCm39)	V679A	probably benign	Het
Tpcn2	A	C	7: 144,811,550 (GRCm39)	F566V	possibly damaging	Het
Uqcrc1	A	G	9: 108,776,473 (GRCm39)	N298D	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
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
R4904:Coq8a	UTSW	1	180,006,168 (GRCm39)	missense	probably damaging	1.00
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'- TTCCATTGACTCTGCCCATAGG -3'
(R):5'- GAAGCATGTGAGAGCTATTTGC -3'

Sequencing Primer
(F):5'- CATTGACTCTGCCCATAGGAGAGG -3'
(R):5'- GCTGCCTCCTAGCCTTTGAAG -3'

Posted On

2017-01-03