Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Coq4'

714738

Institutional Source

Beutler Lab

Gene Symbol

Coq4

Ensembl Gene

ENSMUSG00000026798

Gene Name

coenzyme Q4

Synonyms

D2Ertd97e, EST-MNCb4625

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29787493-29797935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29788550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 63 (Y63N)

Ref Sequence

ENSEMBL: ENSMUSP00000028137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028137] [ENSMUST00000048044] [ENSMUST00000113807] [ENSMUST00000143616] [ENSMUST00000148791] [ENSMUST00000156846] [ENSMUST00000176312] [ENSMUST00000176348] [ENSMUST00000177133] [ENSMUST00000177467]

AlphaFold

Q8BGB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028137
AA Change: Y63N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798
AA Change: Y63N

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	259	1.2e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048044

SMART Domains

Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826

Domain	Start	End	E-Value	Type
Pfam:TruB_N	84	233	1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113807

SMART Domains

Protein: ENSMUSP00000109438
Gene: ENSMUSG00000039826

Domain	Start	End	E-Value	Type
Pfam:TruB_N	84	180	5.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143616
AA Change: Y63N

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798
AA Change: Y63N

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	135	2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148791
AA Change: Y63N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798
AA Change: Y63N

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	200	6.9e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156846

Predicted Effect

probably benign
Transcript: ENSMUST00000176312

Predicted Effect

probably benign
Transcript: ENSMUST00000176348
AA Change: Y63N

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798
AA Change: Y63N

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:Coq4	39	135	2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177133

Predicted Effect

probably benign
Transcript: ENSMUST00000177467

SMART Domains

Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826

Domain	Start	End	E-Value	Type
Pfam:TruB_N	84	187	3.2e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	Het

Other mutations in Coq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03229:Coq4	APN	2	29788485	missense	probably benign	0.00
R0605:Coq4	UTSW	2	29789998	nonsense	probably null
R1184:Coq4	UTSW	2	29788334	unclassified	probably benign
R1917:Coq4	UTSW	2	29789926	missense	probably damaging	1.00
R4844:Coq4	UTSW	2	29796014	missense	possibly damaging	0.82
R5587:Coq4	UTSW	2	29795514	splice site	probably null
R5635:Coq4	UTSW	2	29788355	missense	possibly damaging	0.73
R5886:Coq4	UTSW	2	29790614	unclassified	probably benign
R6722:Coq4	UTSW	2	29788285	unclassified	probably benign
R7548:Coq4	UTSW	2	29795408	missense	possibly damaging	0.87
R8859:Coq4	UTSW	2	29795479	missense	probably damaging	1.00
R9253:Coq4	UTSW	2	29795421	missense	probably damaging	1.00
R9760:Coq4	UTSW	2	29788470	missense	probably benign	0.02
X0064:Coq4	UTSW	2	29789908	missense	possibly damaging	0.95
Z1176:Coq4	UTSW	2	29795449	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCTCTGATTCCAGTGTC -3'
(R):5'- CAGACTTGTAGACTTCACGTTTC -3'

Sequencing Primer
(F):5'- TCTGATTCCAGTGTCCGCGG -3'
(R):5'- TCCTCCCTGTGCCCAGAAG -3'

Posted On

2022-06-15