Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Coq7'

384523

Institutional Source

Beutler Lab

Gene Symbol

Coq7

Ensembl Gene

ENSMUSG00000030652

Gene Name

demethyl-Q 7

Synonyms

clk-1

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118509659-118533356 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118510117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 236 (V236A)

Ref Sequence

ENSEMBL: ENSMUSP00000095695 (fasta)

Gene Model

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

AlphaFold

P97478

Predicted Effect

unknown
Transcript: ENSMUST00000098090
AA Change: V236A

SMART Domains

Protein: ENSMUSP00000095695
Gene: ENSMUSG00000030652
AA Change: V236A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770	F389L	probably damaging	Het
Dgkz	C	T	2: 91,945,702	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256		probably benign	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350		probably null	Het
Zscan20	G	A	4: 128,592,359	P183S	probably benign	Het

Other mutations in Coq7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Coq7	APN	7	118525304	missense	probably damaging	0.98
R0309:Coq7	UTSW	7	118529717	missense	possibly damaging	0.92
R0628:Coq7	UTSW	7	118529644	missense	probably damaging	1.00
R1459:Coq7	UTSW	7	118510037	missense	unknown
R1535:Coq7	UTSW	7	118529674	missense	possibly damaging	0.48
R1612:Coq7	UTSW	7	118509911	missense	unknown
R2519:Coq7	UTSW	7	118510148	missense	unknown
R4095:Coq7	UTSW	7	118527478	critical splice acceptor site	probably null
R4516:Coq7	UTSW	7	118509907	missense	unknown
R5183:Coq7	UTSW	7	118528267	intron	probably benign
R5579:Coq7	UTSW	7	118517335	missense	unknown
R5619:Coq7	UTSW	7	118527486	splice site	probably benign
R5789:Coq7	UTSW	7	118529706	missense	possibly damaging	0.50
R6530:Coq7	UTSW	7	118525335	missense	probably benign	0.01
R6911:Coq7	UTSW	7	118510162	missense	unknown
R7212:Coq7	UTSW	7	118510048	missense	unknown
R7248:Coq7	UTSW	7	118529674	missense	probably benign	0.42
R7361:Coq7	UTSW	7	118529575	missense	probably benign	0.15
R7781:Coq7	UTSW	7	118525888	missense	probably damaging	1.00
R8039:Coq7	UTSW	7	118533246	missense	possibly damaging	0.93
R8796:Coq7	UTSW	7	118527417	missense	probably damaging	0.96
R9166:Coq7	UTSW	7	118510142	missense	unknown
RF001:Coq7	UTSW	7	118533182	missense	probably benign	0.05
Z1177:Coq7	UTSW	7	118510149	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGTGGGGCTTGTTCATCCC -3'
(R):5'- GAAATGCCTCTGTCTTCTGAGATAAG -3'

Sequencing Primer
(F):5'- GTTCATCCCTCCCATGCAGAAC -3'
(R):5'- TCCATTATCATCAAGGTGGGAGC -3'

Posted On

2016-04-27