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

29787493-29797935 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 29795514 bp (GRCm38)

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: 138,065,409 (GRCm38)	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084 (GRCm38)	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767 (GRCm38)	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360 (GRCm38)	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476 (GRCm38)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247 (GRCm38)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210 (GRCm38)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412 (GRCm38)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634 (GRCm38)	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646 (GRCm38)	V74E	possibly damaging	Het
Ccdc78	C	A	17: 25,786,677 (GRCm38)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484 (GRCm38)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738 (GRCm38)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm38)	W1330R	unknown	Het
Cwf19l1	G	A	19: 44,120,877 (GRCm38)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203 (GRCm38)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913 (GRCm38)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242 (GRCm38)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267 (GRCm38)	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951 (GRCm38)	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148 (GRCm38)	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207 (GRCm38)	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075 (GRCm38)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122 (GRCm38)		probably benign	Het
Hepacam	A	G	9: 37,384,684 (GRCm38)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550 (GRCm38)	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308 (GRCm38)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220 (GRCm38)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593 (GRCm38)	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679 (GRCm38)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530 (GRCm38)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342 (GRCm38)	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714 (GRCm38)	Y223C		Het
Lrit3	G	T	3: 129,788,898 (GRCm38)	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263 (GRCm38)	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970 (GRCm38)	V271G	probably benign	Het
Nktr	C	T	9: 121,748,489 (GRCm38)		probably benign	Het
Olfr1342	T	A	4: 118,689,870 (GRCm38)	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576 (GRCm38)	R261H	probably damaging	Het
Olfr347	A	T	2: 36,734,621 (GRCm38)	Q100L	probably damaging	Het
Olfr617	T	A	7: 103,584,531 (GRCm38)	Y170N	probably benign	Het
Olfr979	A	T	9: 40,000,621 (GRCm38)	I202N	possibly damaging	Het
Olfr984	A	T	9: 40,101,244 (GRCm38)	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822 (GRCm38)	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873 (GRCm38)	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832 (GRCm38)	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265 (GRCm38)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555 (GRCm38)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859 (GRCm38)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473 (GRCm38)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619 (GRCm38)		probably benign	Het
Rsf1	T	C	7: 97,662,121 (GRCm38)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm38)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081 (GRCm38)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427 (GRCm38)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851 (GRCm38)		probably null	Het
Sis	A	G	3: 72,914,576 (GRCm38)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618 (GRCm38)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801 (GRCm38)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm38)	H345R	unknown	Het
Suox	A	T	10: 128,671,825 (GRCm38)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828 (GRCm38)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762 (GRCm38)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421 (GRCm38)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566 (GRCm38)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992 (GRCm38)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271 (GRCm38)	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596 (GRCm38)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704 (GRCm38)		probably benign	Het
Tshz2	A	T	2: 169,884,342 (GRCm38)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659 (GRCm38)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138 (GRCm38)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076 (GRCm38)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487 (GRCm38)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561 (GRCm38)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235 (GRCm38)	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762 (GRCm38)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858 (GRCm38)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321 (GRCm38)	K487R	possibly damaging	Het

Other mutations in Coq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03229:Coq4	APN	2	29,788,485 (GRCm38)	missense	probably benign	0.00
R0605:Coq4	UTSW	2	29,789,998 (GRCm38)	nonsense	probably null
R1184:Coq4	UTSW	2	29,788,334 (GRCm38)	unclassified	probably benign
R1917:Coq4	UTSW	2	29,789,926 (GRCm38)	missense	probably damaging	1.00
R4844:Coq4	UTSW	2	29,796,014 (GRCm38)	missense	possibly damaging	0.82
R5635:Coq4	UTSW	2	29,788,355 (GRCm38)	missense	possibly damaging	0.73
R5886:Coq4	UTSW	2	29,790,614 (GRCm38)	unclassified	probably benign
R6722:Coq4	UTSW	2	29,788,285 (GRCm38)	unclassified	probably benign
R7548:Coq4	UTSW	2	29,795,408 (GRCm38)	missense	possibly damaging	0.87
R8859:Coq4	UTSW	2	29,795,479 (GRCm38)	missense	probably damaging	1.00
R9253:Coq4	UTSW	2	29,795,421 (GRCm38)	missense	probably damaging	1.00
R9459:Coq4	UTSW	2	29,788,550 (GRCm38)	missense	probably damaging	0.99
R9760:Coq4	UTSW	2	29,788,470 (GRCm38)	missense	probably benign	0.02
X0064:Coq4	UTSW	2	29,789,908 (GRCm38)	missense	possibly damaging	0.95
Z1176:Coq4	UTSW	2	29,795,449 (GRCm38)	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