Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Coq6'

435629

Institutional Source

Beutler Lab

Gene Symbol

Coq6

Ensembl Gene

ENSMUSG00000021235

Gene Name

coenzyme Q6 monooxygenase

Synonyms

5930427M12Rik

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84408530-84420570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84415413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 145 (D145E)

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: D145E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
AA Change: D145E

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: D145E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
AA Change: D145E

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: D145E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
AA Change: D145E

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: D140E

SMART Domains

Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235
AA Change: D140E

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

noncoding transcript
Transcript: ENSMUST00000150391

Predicted Effect

probably benign
Transcript: ENSMUST00000152913
AA Change: D145E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
AA Change: D145E

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: ENSMUST00000153450

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	probably 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
R1898:Coq6	UTSW	12	84,413,737 (GRCm39)	missense	probably benign	0.38
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
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'- TGACCACGAGTCTCGCTTTATG -3'
(R):5'- AGCTCTTATTTGCCAGCCTCAG -3'

Sequencing Primer
(F):5'- CGCTTTATGTCCTGCCAAAGAGG -3'
(R):5'- CTCCCTCAGGCTGGCATTAAAG -3'

Posted On

2016-10-24