Mutagenetix > Incidental Mutation

Incidental Mutation 'R5789:Coq7'

448211

Institutional Source

Beutler Lab

Gene Symbol

Coq7

Ensembl Gene

ENSMUSG00000030652

Gene Name

demethyl-Q 7

Synonyms

clk-1

MMRRC Submission

043383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118108881-118132529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118128929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 35 (H35Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095695 (fasta)

Gene Model

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

AlphaFold

P97478

Predicted Effect

probably benign
Transcript: ENSMUST00000032887
AA Change: H35Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032887
Gene: ENSMUSG00000030652
AA Change: H35Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098090
AA Change: H35Q

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095695
Gene: ENSMUSG00000030652
AA Change: H35Q

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 benign
Transcript: ENSMUST00000209146
AA Change: H35Q

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,076,108 (GRCm39)	F1200S	probably damaging	Het
Ahnak	A	T	19: 8,979,685 (GRCm39)	D323V	probably benign	Het
Aloxe3	T	C	11: 69,017,265 (GRCm39)	Y13H	probably damaging	Het
Aqp1	A	G	6: 55,313,746 (GRCm39)	I91V	probably benign	Het
C9orf72	T	A	4: 35,226,112 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,305,831 (GRCm39)	S318P	probably damaging	Het
Cdan1	A	G	2: 120,560,016 (GRCm39)	F383L	probably benign	Het
Ciao3	T	C	17: 26,000,177 (GRCm39)	C303R	probably benign	Het
Col6a2	T	A	10: 76,440,223 (GRCm39)	E606V	probably damaging	Het
Col6a5	T	C	9: 105,741,807 (GRCm39)	T2371A	possibly damaging	Het
Cops3	T	C	11: 59,721,106 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,011,454 (GRCm39)	F3I	probably benign	Het
D630003M21Rik	C	T	2: 158,058,734 (GRCm39)	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,438,993 (GRCm39)	Q51L	probably damaging	Het
Dhx37	A	C	5: 125,498,103 (GRCm39)	I702S	possibly damaging	Het
Dnah3	G	T	7: 119,542,822 (GRCm39)	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,091,387 (GRCm39)	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,354,217 (GRCm39)	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,676,941 (GRCm39)	H144L	probably damaging	Het
Eif2b3	T	A	4: 116,885,692 (GRCm39)	I78N	probably damaging	Het
Enpp1	A	T	10: 24,523,137 (GRCm39)	H767Q	probably benign	Het
Fam180a	C	A	6: 35,290,461 (GRCm39)	*174L	probably null	Het
Gabra1	A	T	11: 42,073,742 (GRCm39)		probably benign	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm16551	T	A	9: 74,756,535 (GRCm39)		noncoding transcript	Het
Ifi213	C	A	1: 173,396,360 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,411,410 (GRCm39)	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,731,201 (GRCm39)		probably benign	Het
Mrgprb13	A	T	7: 47,961,946 (GRCm39)		noncoding transcript	Het
Mtrex	A	T	13: 113,027,819 (GRCm39)	N680K	probably benign	Het
Nckap5	A	G	1: 125,955,439 (GRCm39)	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,251,879 (GRCm39)	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,954,559 (GRCm39)	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,294,793 (GRCm39)	Y193*	probably null	Het
Prrt1	T	C	17: 34,850,931 (GRCm39)		probably null	Het
Ptpn12	G	A	5: 21,194,013 (GRCm39)	T753I	possibly damaging	Het
Samsn1	T	C	16: 75,673,336 (GRCm39)	D180G	probably damaging	Het
Sh2d2a	T	A	3: 87,756,820 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,045,091 (GRCm39)		probably null	Het
Socs3	T	A	11: 117,858,608 (GRCm39)	Q150L	probably benign	Het
Supt6	A	G	11: 78,124,412 (GRCm39)	V23A	unknown	Het
Tcf12	T	C	9: 71,792,518 (GRCm39)	Y119C	probably damaging	Het
Them5	A	G	3: 94,253,908 (GRCm39)	E210G	probably damaging	Het
Tmem135	A	G	7: 88,845,330 (GRCm39)	F167S	possibly damaging	Het
Tmem170	A	G	8: 112,593,032 (GRCm39)	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,165,725 (GRCm39)	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,300,065 (GRCm39)		probably benign	Het
Yars1	C	T	4: 129,090,690 (GRCm39)	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,926,572 (GRCm39)	H98Q	probably damaging	Het
Zfp90	T	C	8: 107,150,605 (GRCm39)	L106P	probably benign	Het
Zscan22	T	G	7: 12,637,853 (GRCm39)	S82A	probably benign	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
R4095:Coq7	UTSW	7	118,126,701 (GRCm39)	critical splice acceptor site	probably null
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
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'- AACAGACTGGGCTGAGACTC -3'
(R):5'- ACACTGGTAGATGTGTCCAGCC -3'

Sequencing Primer
(F):5'- GCTGAGACTCAGGGAAGAACC -3'
(R):5'- TCATTCTGTCGGCAAAAAGGC -3'

Posted On

2016-12-15