Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Coq4'

438790

Institutional Source

Beutler Lab

Gene Symbol

Coq4

Ensembl Gene

ENSMUSG00000026798

Gene Name

coenzyme Q4

Synonyms

D2Ertd97e, EST-MNCb4625

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5587 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

29677505-29687947 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 29685526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028137] [ENSMUST00000143616] [ENSMUST00000148791] [ENSMUST00000148791] [ENSMUST00000176348]

AlphaFold

Q8BGB8

Predicted Effect

probably null
Transcript: ENSMUST00000028137

SMART Domains

Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142694

Predicted Effect

probably benign
Transcript: ENSMUST00000143616

SMART Domains

Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798

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

Predicted Effect

probably null
Transcript: ENSMUST00000148791

SMART Domains

Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798

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 null
Transcript: ENSMUST00000148791

SMART Domains

Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798

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: ENSMUST00000176348

SMART Domains

Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,170 (GRCm39)	R120G	probably benign	Het
Acad11	A	G	9: 103,940,966 (GRCm39)	T3A	probably benign	Het
Adamts18	G	A	8: 114,501,992 (GRCm39)	Q290*	probably null	Het
Ahnak	A	G	19: 8,986,840 (GRCm39)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,658,304 (GRCm39)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,672,281 (GRCm39)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,178,982 (GRCm39)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,543,559 (GRCm39)	Y10*	probably null	Het
Bmp2	T	A	2: 133,396,566 (GRCm39)	V74E	possibly damaging	Het
Ccdc121	G	T	5: 31,643,428 (GRCm39)	G53W	probably benign	Het
Ccdc78	C	A	17: 26,005,651 (GRCm39)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,733,348 (GRCm39)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,894,552 (GRCm39)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm39)	W1330R	unknown	Het
Cwf19l1	G	A	19: 44,109,316 (GRCm39)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,184,547 (GRCm39)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,870,977 (GRCm39)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,328,068 (GRCm39)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,968,295 (GRCm39)	V259E	probably damaging	Het
Dpyd	A	C	3: 118,858,600 (GRCm39)	S605R	probably damaging	Het
Emc1	A	G	4: 139,089,459 (GRCm39)	E209G	probably damaging	Het
Esrra	A	G	19: 6,897,575 (GRCm39)	S61P	probably benign	Het
Garin2	C	A	12: 78,761,849 (GRCm39)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,860,844 (GRCm39)		probably benign	Het
Hepacam	A	G	9: 37,295,980 (GRCm39)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,741,534 (GRCm39)	Y107C	probably damaging	Het
Intu	A	G	3: 40,629,738 (GRCm39)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,539,054 (GRCm39)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,371,474 (GRCm39)	A15T	probably benign	Het
Lhx8	A	T	3: 154,017,316 (GRCm39)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,671,364 (GRCm39)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,601,168 (GRCm39)	M702K	probably benign	Het
Lpin1	T	C	12: 16,623,715 (GRCm39)	Y223C		Het
Lrit3	G	T	3: 129,582,547 (GRCm39)	A359E	probably benign	Het
Lrp2	T	C	2: 69,329,607 (GRCm39)	E1720G	probably benign	Het
Mcub	A	C	3: 129,710,619 (GRCm39)	V271G	probably benign	Het
Nktr	C	T	9: 121,577,555 (GRCm39)		probably benign	Het
Or10g9	A	T	9: 39,911,917 (GRCm39)	I202N	possibly damaging	Het
Or13p4	T	A	4: 118,547,067 (GRCm39)	D194V	probably damaging	Het
Or1j18	A	T	2: 36,624,633 (GRCm39)	Q100L	probably damaging	Het
Or4d5	A	T	9: 40,012,540 (GRCm39)	L82Q	probably damaging	Het
Or52z12	T	A	7: 103,233,738 (GRCm39)	Y170N	probably benign	Het
Or9i1	G	A	19: 13,839,940 (GRCm39)	R261H	probably damaging	Het
Pcdha4	T	C	18: 37,087,875 (GRCm39)	V686A	probably benign	Het
Pelo	A	G	13: 115,226,409 (GRCm39)	V16A	possibly damaging	Het
Plcd1	A	G	9: 118,902,900 (GRCm39)	S539P	probably benign	Het
Prss1	A	G	6: 41,440,199 (GRCm39)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 149,981,306 (GRCm39)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,080,685 (GRCm39)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,537,632 (GRCm39)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,371,603 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,328 (GRCm39)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm39)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,103,425 (GRCm39)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,352,151 (GRCm39)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,244,863 (GRCm39)		probably null	Het
Sis	A	G	3: 72,821,909 (GRCm39)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,850,432 (GRCm39)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,435,229 (GRCm39)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm39)	H345R	unknown	Het
Suox	A	T	10: 128,507,694 (GRCm39)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,868,726 (GRCm39)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,592,492 (GRCm39)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,417,765 (GRCm39)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,344,850 (GRCm39)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,412,966 (GRCm39)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,640,097 (GRCm39)	Q1211*	probably null	Het
Tns1	T	A	1: 73,959,755 (GRCm39)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,311,455 (GRCm39)		probably benign	Het
Tshz2	A	T	2: 169,726,262 (GRCm39)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,566,485 (GRCm39)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,702,433 (GRCm39)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 41,949,911 (GRCm39)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,995,427 (GRCm39)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,379,458 (GRCm39)	N521S	probably damaging	Het
Zan	C	G	5: 137,390,024 (GRCm39)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,656,059 (GRCm39)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,600,295 (GRCm39)	K487R	possibly damaging	Het

Other mutations in Coq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03229:Coq4	APN	2	29,678,497 (GRCm39)	missense	probably benign	0.00
R0605:Coq4	UTSW	2	29,680,010 (GRCm39)	nonsense	probably null
R1184:Coq4	UTSW	2	29,678,346 (GRCm39)	unclassified	probably benign
R1917:Coq4	UTSW	2	29,679,938 (GRCm39)	missense	probably damaging	1.00
R4844:Coq4	UTSW	2	29,686,026 (GRCm39)	missense	possibly damaging	0.82
R5635:Coq4	UTSW	2	29,678,367 (GRCm39)	missense	possibly damaging	0.73
R5886:Coq4	UTSW	2	29,680,626 (GRCm39)	unclassified	probably benign
R6722:Coq4	UTSW	2	29,678,297 (GRCm39)	unclassified	probably benign
R7548:Coq4	UTSW	2	29,685,420 (GRCm39)	missense	possibly damaging	0.87
R8859:Coq4	UTSW	2	29,685,491 (GRCm39)	missense	probably damaging	1.00
R9253:Coq4	UTSW	2	29,685,433 (GRCm39)	missense	probably damaging	1.00
R9459:Coq4	UTSW	2	29,678,562 (GRCm39)	missense	probably damaging	0.99
R9760:Coq4	UTSW	2	29,678,482 (GRCm39)	missense	probably benign	0.02
X0064:Coq4	UTSW	2	29,679,920 (GRCm39)	missense	possibly damaging	0.95
Z1176:Coq4	UTSW	2	29,685,461 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TCAACGTCAACTAGCGGTG -3'
(R):5'- CTAGATGCTGAGACAAGGGC -3'

Sequencing Primer
(F):5'- TCAACTAGCGGTGGGCCAG -3'
(R):5'- TGAGACAAGGGCCGGGC -3'

Posted On

2016-10-26