Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Coq8a'

671079

Institutional Source

Beutler Lab

Gene Symbol

Coq8a

Ensembl Gene

ENSMUSG00000026489

Gene Name

coenzyme Q8A

Synonyms

Cabc1, Adck3, 4632432J16Rik

MMRRC Submission

068723-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179992803-180023585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180006773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 85 (P85Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027766 (fasta)

Gene Model

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

AlphaFold

Q60936

Predicted Effect

probably benign
Transcript: ENSMUST00000027766
AA Change: P85Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027766
Gene: ENSMUSG00000026489
AA Change: P85Q

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: ENSMUST00000159914
AA Change: P85Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000123720
Gene: ENSMUSG00000026489
AA Change: P85Q

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: P85Q

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125089
Gene: ENSMUSG00000026489
AA Change: P85Q

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
AA Change: P85Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124329
Gene: ENSMUSG00000026489
AA Change: P85Q

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: ENSMUST00000161379

Predicted Effect

probably damaging
Transcript: ENSMUST00000161632
AA Change: P38Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124481
Gene: ENSMUSG00000026489
AA Change: P38Q

Domain	Start	End	E-Value	Type
low complexity region	44	63	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: ENSMUST00000161746

Predicted Effect

probably benign
Transcript: ENSMUST00000161814
AA Change: P85Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125071
Gene: ENSMUSG00000026489
AA Change: P85Q

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
AA Change: P85Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125024
Gene: ENSMUSG00000026489
AA Change: P85Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162769

Predicted Effect

probably benign
Transcript: ENSMUST00000170472
AA Change: P85Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128290
Gene: ENSMUSG00000026489
AA Change: P85Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,939 (GRCm39)	V498D	unknown	Het
Actn1	C	T	12: 80,245,754 (GRCm39)		probably benign	Het
Actrt2	T	C	4: 154,751,176 (GRCm39)	E320G	probably damaging	Het
Adamts7	C	T	9: 90,076,239 (GRCm39)	Q1265*	probably null	Het
Adra1a	A	G	14: 66,875,064 (GRCm39)	N13S	probably benign	Het
Alpk3	G	T	7: 80,707,403 (GRCm39)	R9L	unknown	Het
Ankrd42	A	G	7: 92,263,674 (GRCm39)	F225L	probably benign	Het
C3	T	C	17: 57,528,011 (GRCm39)	E736G	probably benign	Het
Ccng1	A	G	11: 40,644,826 (GRCm39)	S24P	probably benign	Het
Cdc42bpa	A	T	1: 179,894,816 (GRCm39)	N332I	probably damaging	Het
Cep131	G	A	11: 119,972,074 (GRCm39)	P90S	probably benign	Het
Chd8	A	G	14: 52,441,904 (GRCm39)	S2154P	probably damaging	Het
Cilp	A	G	9: 65,186,535 (GRCm39)	S877G	probably benign	Het
Clic6	T	A	16: 92,324,987 (GRCm39)	S382T	possibly damaging	Het
Creb3l4	A	G	3: 90,145,225 (GRCm39)	I309T	probably benign	Het
Cux2	T	C	5: 122,007,306 (GRCm39)	E785G	probably benign	Het
Cyfip2	A	G	11: 46,144,800 (GRCm39)	F685L	possibly damaging	Het
Epha6	T	C	16: 60,026,035 (GRCm39)	D469G	probably benign	Het
Erc1	A	T	6: 119,607,616 (GRCm39)	V962E	probably damaging	Het
Esrrb	A	T	12: 86,517,038 (GRCm39)	S57C	probably damaging	Het
Fam169a	A	G	13: 97,250,628 (GRCm39)	T320A	possibly damaging	Het
Farsb	C	T	1: 78,401,678 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,338,907 (GRCm39)	V400A	probably damaging	Het
Frem3	A	T	8: 81,342,851 (GRCm39)	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632 (GRCm39)	T786A	probably benign	Het
Gapvd1	A	T	2: 34,594,330 (GRCm39)	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077 (GRCm39)	S737P	probably damaging	Het
Gm525	A	G	11: 88,979,479 (GRCm39)	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,465,091 (GRCm39)	D175V	probably benign	Het
Heatr5b	T	C	17: 79,123,015 (GRCm39)	I655V	probably benign	Het
Hmcn1	G	A	1: 150,591,469 (GRCm39)	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ier2	A	T	8: 85,389,096 (GRCm39)	D95E	probably damaging	Het
Ifi208	A	G	1: 173,523,370 (GRCm39)	R547G	possibly damaging	Het
Itih3	T	A	14: 30,634,854 (GRCm39)	S639C	possibly damaging	Het
Kif19b	A	G	5: 140,461,785 (GRCm39)	E529G	probably damaging	Het
Marchf7	G	A	2: 60,074,015 (GRCm39)		probably null	Het
Mep1b	A	C	18: 21,224,325 (GRCm39)	T373P	probably damaging	Het
Mlh3	G	A	12: 85,282,497 (GRCm39)	P1379S	probably damaging	Het
Nav3	T	A	10: 109,605,032 (GRCm39)	K1014*	probably null	Het
Nme1	A	T	11: 93,851,658 (GRCm39)	F78I	probably benign	Het
Nos3	T	A	5: 24,576,745 (GRCm39)	V458D	probably damaging	Het
Noxa1	A	G	2: 24,984,852 (GRCm39)	F29L	probably benign	Het
Nrcam	G	A	12: 44,624,958 (GRCm39)	G1055D	probably benign	Het
Nutf2	A	T	8: 106,602,171 (GRCm39)		probably benign	Het
Oog3	A	G	4: 143,884,556 (GRCm39)	I460T	probably benign	Het
Or4b1b	A	T	2: 90,112,150 (GRCm39)	Y256*	probably null	Het
Or4c113	T	C	2: 88,885,477 (GRCm39)	M98V	probably benign	Het
Or5p78	A	T	7: 108,211,580 (GRCm39)	D22V	probably benign	Het
Or7e175	A	T	9: 20,048,630 (GRCm39)	M73L	possibly damaging	Het
Pde2a	A	T	7: 101,155,136 (GRCm39)	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,475,209 (GRCm39)	Q61*	probably null	Het
Pdpr	A	G	8: 111,852,240 (GRCm39)	T536A	possibly damaging	Het
Pias4	T	A	10: 80,999,846 (GRCm39)	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787 (GRCm39)	D188E	possibly damaging	Het
Pik3r2	A	G	8: 71,224,007 (GRCm39)	V270A	probably benign	Het
Plod2	T	A	9: 92,482,801 (GRCm39)	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,961,832 (GRCm39)	V450A	probably benign	Het
Poln	G	A	5: 34,286,871 (GRCm39)	T99I	possibly damaging	Het
Prg2	A	G	2: 84,812,404 (GRCm39)	D38G	possibly damaging	Het
Psmd7	A	C	8: 108,310,831 (GRCm39)	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Ranbp2	T	A	10: 58,328,414 (GRCm39)	V2810E	probably damaging	Het
Rgma	A	T	7: 73,067,648 (GRCm39)	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,246,814 (GRCm39)	T25A	probably damaging	Het
Serpinb6e	T	C	13: 34,024,977 (GRCm39)	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,513,396 (GRCm39)	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,613,843 (GRCm39)	T80S	probably benign	Het
Skint6	A	T	4: 113,049,869 (GRCm39)	S265R	possibly damaging	Het
Slc23a2	A	T	2: 131,902,629 (GRCm39)	F524L	probably benign	Het
Slc2a13	C	A	15: 91,234,302 (GRCm39)	G345C	probably damaging	Het
Sp110	A	G	1: 85,511,231 (GRCm39)		probably null	Het
Srcin1	A	G	11: 97,439,803 (GRCm39)	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,560,118 (GRCm39)	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,090,553 (GRCm39)	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,486,680 (GRCm39)	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,765,114 (GRCm39)	Q32L	probably benign	Het
Trav16n	A	C	14: 53,588,867 (GRCm39)	T48P	probably damaging	Het
Ufc1	A	G	1: 171,117,095 (GRCm39)	Y110H	probably damaging	Het
Wars2	A	G	3: 99,123,888 (GRCm39)	K250E	probably damaging	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Xirp2	A	T	2: 67,341,557 (GRCm39)	E1266V	probably damaging	Het
Zfp423	A	C	8: 88,507,857 (GRCm39)	L829R	probably damaging	Het
Zfp735	A	G	11: 73,603,029 (GRCm39)	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,547,847 (GRCm39)	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,662,687 (GRCm39)	M389K	probably 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
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
R9277:Coq8a	UTSW	1	180,006,776 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGATCTTCGCTGGATGCC -3'
(R):5'- GCAGCATCCTTTGGAGGGTTAG -3'

Sequencing Primer
(F):5'- TGGCCAAGAACAAGTCTCTGTGATC -3'
(R):5'- CATCCTTTGGAGGGTTAGAGAGG -3'

Posted On

2021-04-30