Mutagenetix > Incidental Mutation

Incidental Mutation 'R4095:Coq7'

317856

Institutional Source

Beutler Lab

Gene Symbol

Coq7

Ensembl Gene

ENSMUSG00000030652

Gene Name

demethyl-Q 7

Synonyms

clk-1

MMRRC Submission

040858-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118108881-118132529 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 118126701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032887] [ENSMUST00000098090] [ENSMUST00000209146]

AlphaFold

P97478

Predicted Effect

probably null
Transcript: ENSMUST00000032887

SMART Domains

Protein: ENSMUSP00000032887
Gene: ENSMUSG00000030652

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC
Pfam:COQ7	48	217	3.5e-78	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098090

SMART Domains

Protein: ENSMUSP00000095695
Gene: ENSMUSG00000030652

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC
Pfam:COQ7	48	210	5.9e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207046

Predicted Effect

probably null
Transcript: ENSMUST00000209146

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for null mutations in this gene are embryonic lethal during mid-gestation with aborted neurogenesis and abnormal mitochondria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 53,186,245 (GRCm39)	I1220L	probably damaging	Het
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Apba1	A	T	19: 23,921,388 (GRCm39)	Q737L	probably benign	Het
Arvcf	T	A	16: 18,220,327 (GRCm39)	D564E	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Brd9	G	A	13: 74,092,918 (GRCm39)	V302I	probably benign	Het
Brinp3	C	A	1: 146,777,430 (GRCm39)	H626N	possibly damaging	Het
C1qc	T	C	4: 136,617,637 (GRCm39)	N153S	probably benign	Het
Casp3	G	A	8: 47,087,251 (GRCm39)	G66D	probably damaging	Het
Dach1	C	T	14: 98,138,815 (GRCm39)	V491M	possibly damaging	Het
Dda1	A	G	8: 71,926,436 (GRCm39)	T52A	possibly damaging	Het
Entpd7	A	G	19: 43,692,640 (GRCm39)	Y65C	probably damaging	Het
Fmnl2	A	G	2: 52,991,535 (GRCm39)	D350G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Gbp2	A	G	3: 142,343,210 (GRCm39)	T576A	probably benign	Het
Gm15446	T	A	5: 110,088,590 (GRCm39)		probably null	Het
Gtf2a1	G	T	12: 91,542,411 (GRCm39)	T57K	possibly damaging	Het
Hps5	T	C	7: 46,425,218 (GRCm39)	E494G	probably benign	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Hydin	A	G	8: 111,268,179 (GRCm39)	N2886S	probably damaging	Het
Ighv2-6-8	T	C	12: 113,759,773 (GRCm39)	Y112C	probably damaging	Het
Kcnf1	A	T	12: 17,225,480 (GRCm39)	L247Q	possibly damaging	Het
Kndc1	A	G	7: 139,516,938 (GRCm39)	M1606V	possibly damaging	Het
Krt27	T	C	11: 99,236,619 (GRCm39)	T431A	probably benign	Het
Lama4	A	T	10: 38,973,118 (GRCm39)	I1562F	probably damaging	Het
Lrig1	T	C	6: 94,590,559 (GRCm39)	D487G	probably benign	Het
Lrp1b	G	A	2: 41,339,203 (GRCm39)	T880I	probably benign	Het
Ltbp4	A	G	7: 27,024,641 (GRCm39)	V663A	possibly damaging	Het
Mapt	T	C	11: 104,201,362 (GRCm39)		probably null	Het
Mpdz	A	T	4: 81,302,060 (GRCm39)	V229D	possibly damaging	Het
Or10am5	T	A	7: 6,518,252 (GRCm39)	S59C	possibly damaging	Het
Or6e1	T	C	14: 54,520,188 (GRCm39)	T55A	probably benign	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Parm1	T	C	5: 91,742,039 (GRCm39)	S136P	probably benign	Het
Pcdhgb2	T	A	18: 37,824,003 (GRCm39)	S331R	probably benign	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Ppp1r12c	T	C	7: 4,486,366 (GRCm39)	E601G	probably damaging	Het
Rell1	C	A	5: 64,126,013 (GRCm39)	V22L	probably benign	Het
Sema6c	T	A	3: 95,080,505 (GRCm39)	L901Q	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc22a23	A	G	13: 34,489,189 (GRCm39)	L116P	probably damaging	Het
Slit1	A	T	19: 41,596,925 (GRCm39)		probably benign	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Tmem104	T	A	11: 115,134,749 (GRCm39)	Y427*	probably null	Het
Tmem74	G	A	15: 43,730,678 (GRCm39)	Q122*	probably null	Het
Tnpo2	T	A	8: 85,765,048 (GRCm39)	L10Q	probably damaging	Het
Trav6-2	G	T	14: 52,905,272 (GRCm39)	A98S	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ube2b	A	C	11: 51,888,654 (GRCm39)	V39G	possibly damaging	Het
Vmn1r185	A	T	7: 26,311,208 (GRCm39)	V99E	probably damaging	Het
Wnk1	G	A	6: 119,925,087 (GRCm39)	T1459I	probably damaging	Het
Zc3h7a	T	C	16: 10,963,099 (GRCm39)	K754R	probably damaging	Het
Zfp605	A	G	5: 110,275,602 (GRCm39)	K240R	probably damaging	Het
Zfp61	A	G	7: 23,990,700 (GRCm39)		probably null	Het

Other mutations in Coq7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Coq7	APN	7	118,124,527 (GRCm39)	missense	probably damaging	0.98
R0309:Coq7	UTSW	7	118,128,940 (GRCm39)	missense	possibly damaging	0.92
R0628:Coq7	UTSW	7	118,128,867 (GRCm39)	missense	probably damaging	1.00
R1459:Coq7	UTSW	7	118,109,260 (GRCm39)	missense	unknown
R1535:Coq7	UTSW	7	118,128,897 (GRCm39)	missense	possibly damaging	0.48
R1612:Coq7	UTSW	7	118,109,134 (GRCm39)	missense	unknown
R2519:Coq7	UTSW	7	118,109,371 (GRCm39)	missense	unknown
R4516:Coq7	UTSW	7	118,109,130 (GRCm39)	missense	unknown
R4972:Coq7	UTSW	7	118,109,340 (GRCm39)	missense	unknown
R5183:Coq7	UTSW	7	118,127,490 (GRCm39)	intron	probably benign
R5579:Coq7	UTSW	7	118,116,558 (GRCm39)	missense	unknown
R5619:Coq7	UTSW	7	118,126,709 (GRCm39)	splice site	probably benign
R5789:Coq7	UTSW	7	118,128,929 (GRCm39)	missense	possibly damaging	0.50
R6530:Coq7	UTSW	7	118,124,558 (GRCm39)	missense	probably benign	0.01
R6911:Coq7	UTSW	7	118,109,385 (GRCm39)	missense	unknown
R7212:Coq7	UTSW	7	118,109,271 (GRCm39)	missense	unknown
R7248:Coq7	UTSW	7	118,128,897 (GRCm39)	missense	probably benign	0.42
R7361:Coq7	UTSW	7	118,128,798 (GRCm39)	missense	probably benign	0.15
R7781:Coq7	UTSW	7	118,125,111 (GRCm39)	missense	probably damaging	1.00
R8039:Coq7	UTSW	7	118,132,469 (GRCm39)	missense	possibly damaging	0.93
R8796:Coq7	UTSW	7	118,126,640 (GRCm39)	missense	probably damaging	0.96
R9166:Coq7	UTSW	7	118,109,365 (GRCm39)	missense	unknown
RF001:Coq7	UTSW	7	118,132,405 (GRCm39)	missense	probably benign	0.05
Z1177:Coq7	UTSW	7	118,109,372 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTCTCACGTAAAAGATATGCCCC -3'
(R):5'- TGCCCAGTGGTCATGATCAG -3'

Sequencing Primer
(F):5'- AGTTGCCTAAGTCCCTGCC -3'
(R):5'- TGGTCATGATCAGCAGGTAC -3'

Posted On

2015-05-15