Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Coq6'

212149

Institutional Source

Beutler Lab

Gene Symbol

Coq6

Ensembl Gene

ENSMUSG00000021235

Gene Name

coenzyme Q6 monooxygenase

Synonyms

5930427M12Rik

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84408530-84420570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84413737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 89 (E89G)

Ref Sequence

ENSEMBL: ENSMUSP00000115676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021661] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000152913]

AlphaFold

Q8R1S0

Predicted Effect

probably benign
Transcript: ENSMUST00000021661
AA Change: E89G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
AA Change: E89G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	3.9e-8	PFAM
Pfam:FAD_binding_3	334	435	1.3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110276
AA Change: E89G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
AA Change: E89G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	5.1e-8	PFAM
Pfam:FAD_binding_3	334	435	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110278
AA Change: E89G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
AA Change: E89G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
Pfam:FAD_binding_3	195	328	6.8e-8	PFAM
Pfam:FAD_binding_3	334	410	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140961

Predicted Effect

unknown
Transcript: ENSMUST00000145522
AA Change: E84G

SMART Domains

Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235
AA Change: E84G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SCOP:d1foha5	35	167	2e-6	SMART
PDB:4K22\|B	90	156	3e-8	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000152913
AA Change: E89G

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
AA Change: E89G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1foha5	39	269	1e-10	SMART
PDB:4K22\|B	94	274	1e-20	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153450

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Fes	T	A	7: 80,029,659 (GRCm39)	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,189,631 (GRCm39)	E352G	probably benign	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Sct	A	T	7: 140,858,761 (GRCm39)	L57Q	probably damaging	Het
Serpinb3b	T	C	1: 107,082,317 (GRCm39)	S316G	possibly damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,320,650 (GRCm39)	R168L	possibly damaging	Het

Other mutations in Coq6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0508:Coq6	UTSW	12	84,414,913 (GRCm39)	splice site	probably benign
R0607:Coq6	UTSW	12	84,415,412 (GRCm39)	missense	possibly damaging	0.95
R1221:Coq6	UTSW	12	84,418,301 (GRCm39)	missense	possibly damaging	0.96
R1885:Coq6	UTSW	12	84,419,238 (GRCm39)	missense	probably damaging	1.00
R3153:Coq6	UTSW	12	84,418,309 (GRCm39)	missense	probably damaging	1.00
R3824:Coq6	UTSW	12	84,419,189 (GRCm39)	splice site	probably benign
R4015:Coq6	UTSW	12	84,413,671 (GRCm39)	missense	probably benign	0.00
R4241:Coq6	UTSW	12	84,420,563 (GRCm39)	utr 3 prime	probably benign
R4285:Coq6	UTSW	12	84,417,178 (GRCm39)	intron	probably benign
R4353:Coq6	UTSW	12	84,414,923 (GRCm39)	missense	probably damaging	0.99
R4598:Coq6	UTSW	12	84,408,913 (GRCm39)	missense	probably benign	0.00
R4599:Coq6	UTSW	12	84,408,913 (GRCm39)	missense	probably benign	0.00
R4868:Coq6	UTSW	12	84,417,726 (GRCm39)	missense	probably damaging	0.99
R4887:Coq6	UTSW	12	84,419,070 (GRCm39)	missense	probably damaging	1.00
R5567:Coq6	UTSW	12	84,415,413 (GRCm39)	missense	probably benign	0.10
R5570:Coq6	UTSW	12	84,415,413 (GRCm39)	missense	probably benign	0.10
R5715:Coq6	UTSW	12	84,413,681 (GRCm39)	missense	probably benign	0.10
R6608:Coq6	UTSW	12	84,418,922 (GRCm39)	missense	probably benign	0.00
R7035:Coq6	UTSW	12	84,415,415 (GRCm39)	missense	probably damaging	0.99
R7096:Coq6	UTSW	12	84,408,595 (GRCm39)	critical splice donor site	probably null
R7851:Coq6	UTSW	12	84,418,929 (GRCm39)	missense	possibly damaging	0.57
R7908:Coq6	UTSW	12	84,417,940 (GRCm39)	missense	probably damaging	1.00
R9432:Coq6	UTSW	12	84,420,464 (GRCm39)	missense	probably benign	0.01
Z1176:Coq6	UTSW	12	84,417,737 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GAACCCCTGGAGCTGGTTTATATTTG -3'
(R):5'- TCATCAAGTATGACCACGCC -3'

Sequencing Primer
(F):5'- CTGGAGCTGGTTTATATTTGTTTCTG -3'
(R):5'- GTATGACCACGCCCACCTCG -3'

Posted On

2014-06-30