Mutagenetix > Incidental Mutation

Incidental Mutation 'R6460:Coq9'

517570

Institutional Source

Beutler Lab

Gene Symbol

Coq9

Ensembl Gene

ENSMUSG00000031782

Gene Name

coenzyme Q9

Synonyms

2310005O14Rik

MMRRC Submission

044595-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R6460 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95565041-95581523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95579814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 256 (D256E)

Ref Sequence

ENSEMBL: ENSMUSP00000034234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034234] [ENSMUST00000109521] [ENSMUST00000159871] [ENSMUST00000211939]

AlphaFold

Q8K1Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034234
AA Change: D256E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: D256E

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	46	66	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
low complexity region	117	135	N/A	INTRINSIC
Pfam:COQ9	205	281	1.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109521

SMART Domains

Protein: ENSMUSP00000105147
Gene: ENSMUSG00000031783

Domain	Start	End	E-Value	Type
RPOLD	18	262	6.79e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159638

Predicted Effect

unknown
Transcript: ENSMUST00000159871
AA Change: D221E

SMART Domains

Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782
AA Change: D221E

Domain	Start	End	E-Value	Type
low complexity region	9	24	N/A	INTRINSIC
low complexity region	46	66	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
low complexity region	117	135	N/A	INTRINSIC
Pfam:COQ9	196	246	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160779

Predicted Effect

unknown
Transcript: ENSMUST00000211859
AA Change: D21E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161208

Predicted Effect

probably benign
Transcript: ENSMUST00000211939

Predicted Effect

probably benign
Transcript: ENSMUST00000212124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212120

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, encephalomyopathy, hair loss, weight loss, demyelination, cardiac fibrosis and abnromal mitochondrial function. [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
Abca7	A	T	10: 79,844,862 (GRCm39)	H1528L	probably benign	Het
Ablim1	A	G	19: 57,068,271 (GRCm39)	S263P	possibly damaging	Het
Ahnak2	T	C	12: 112,750,610 (GRCm39)	E104G	probably null	Het
Apof	T	A	10: 128,105,086 (GRCm39)	M80K	probably damaging	Het
Arfgef1	C	T	1: 10,283,285 (GRCm39)	R208H	probably damaging	Het
Arhgef33	A	G	17: 80,657,018 (GRCm39)		probably null	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
Cabcoco1	T	C	10: 68,352,211 (GRCm39)	K34E	probably damaging	Het
Col4a4	C	A	1: 82,444,253 (GRCm39)	G1338V	unknown	Het
Dnajc18	A	T	18: 35,833,963 (GRCm39)	C41S	probably benign	Het
Dnajc6	A	G	4: 101,472,795 (GRCm39)	I307M	probably damaging	Het
Emg1	A	G	6: 124,688,870 (GRCm39)	V46A	probably damaging	Het
Eya3	A	G	4: 132,408,174 (GRCm39)	S157G	probably damaging	Het
Eya4	T	C	10: 23,027,910 (GRCm39)	N274S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	A	G	9: 15,878,296 (GRCm39)	V3395A	probably damaging	Het
Fchsd1	A	T	18: 38,092,897 (GRCm39)		probably null	Het
Gm4846	A	G	1: 166,325,082 (GRCm39)	V3A	probably benign	Het
Hecw2	T	A	1: 53,907,992 (GRCm39)		probably null	Het
Herc3	T	A	6: 58,867,108 (GRCm39)	I10N	probably damaging	Het
Hhatl	C	T	9: 121,618,588 (GRCm39)	R138H	probably benign	Het
Hspa9	A	T	18: 35,085,765 (GRCm39)	H35Q	probably benign	Het
Irgq	T	A	7: 24,233,115 (GRCm39)	S319T	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Ksr2	T	A	5: 117,894,449 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,036,559 (GRCm39)	I865V	probably damaging	Het
Map2k1	A	G	9: 64,094,577 (GRCm39)	L355P	probably damaging	Het
Muc16	A	G	9: 18,551,812 (GRCm39)	I4827T	probably benign	Het
Myh1	T	C	11: 67,112,202 (GRCm39)	V1752A	probably benign	Het
Nfatc2ip	A	G	7: 125,986,909 (GRCm39)	V282A	probably damaging	Het
Nrg1	T	A	8: 32,308,561 (GRCm39)	E485V	probably damaging	Het
Ofcc1	T	C	13: 40,441,455 (GRCm39)	D2G	probably damaging	Het
Or10d3	CAGAG	CAG	9: 39,462,088 (GRCm39)		probably null	Het
Pclo	T	C	5: 14,729,146 (GRCm39)		probably benign	Het
Pom121	T	C	5: 135,420,537 (GRCm39)	K295E	unknown	Het
Rb1	A	C	14: 73,515,894 (GRCm39)	I294R	probably benign	Het
Schip1	C	A	3: 68,402,227 (GRCm39)	S101R	probably benign	Het
Sec24c	T	A	14: 20,740,868 (GRCm39)	Y629N	probably damaging	Het
Shkbp1	T	A	7: 27,049,963 (GRCm39)	H305L	probably benign	Het
Spag9	T	C	11: 93,959,801 (GRCm39)	I187T	probably damaging	Het
Srp72	C	A	5: 77,135,838 (GRCm39)	T256K	probably damaging	Het
Stk32c	T	A	7: 138,685,190 (GRCm39)	N320I	probably damaging	Het
Stxbp4	A	T	11: 90,497,811 (GRCm39)	S163T	probably benign	Het
Sycp1	T	G	3: 102,832,569 (GRCm39)	Y199S	probably damaging	Het
Tpk1	T	C	6: 43,445,961 (GRCm39)	D159G	probably benign	Het
Trav21-dv12	C	T	14: 54,114,191 (GRCm39)	H104Y	probably benign	Het
Trip4	A	T	9: 65,788,302 (GRCm39)	Y48N	probably damaging	Het
Trmt10b	A	G	4: 45,314,322 (GRCm39)	T255A	possibly damaging	Het
Ttn	G	A	2: 76,747,232 (GRCm39)	Q4606*	probably null	Het
Vcan	T	A	13: 89,838,806 (GRCm39)	K2246M	possibly damaging	Het
Zfp438	C	A	18: 5,213,603 (GRCm39)	G452C	probably damaging	Het
Zfp54	T	A	17: 21,654,004 (GRCm39)	I166N	probably benign	Het
Zfp735	T	C	11: 73,602,478 (GRCm39)	V474A	probably benign	Het
Zfp831	G	T	2: 174,488,360 (GRCm39)	G1012W	possibly damaging	Het

Other mutations in Coq9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Coq9	APN	8	95,577,145 (GRCm39)	missense	probably damaging	1.00
IGL00909:Coq9	APN	8	95,578,530 (GRCm39)	missense	possibly damaging	0.94
R1144:Coq9	UTSW	8	95,569,251 (GRCm39)	missense	probably benign	0.03
R2897:Coq9	UTSW	8	95,579,752 (GRCm39)	missense	probably damaging	1.00
R2898:Coq9	UTSW	8	95,579,752 (GRCm39)	missense	probably damaging	1.00
R4436:Coq9	UTSW	8	95,579,743 (GRCm39)	missense	probably benign	0.00
R4578:Coq9	UTSW	8	95,580,234 (GRCm39)	missense	probably benign	0.03
R4884:Coq9	UTSW	8	95,579,822 (GRCm39)	missense	probably benign	0.14
R6268:Coq9	UTSW	8	95,576,862 (GRCm39)	missense	probably benign	0.22
R6902:Coq9	UTSW	8	95,577,180 (GRCm39)	missense	probably benign	0.02
R7767:Coq9	UTSW	8	95,577,214 (GRCm39)	missense	probably benign	0.05
R7981:Coq9	UTSW	8	95,569,285 (GRCm39)	missense	probably benign
R7994:Coq9	UTSW	8	95,579,785 (GRCm39)	missense	probably benign	0.18
R8956:Coq9	UTSW	8	95,576,886 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCAGAGGGCTATATGTGTCAGTG -3'
(R):5'- GCCAGCCTTCTTGGAAAGAC -3'

Sequencing Primer
(F):5'- GCTATATGTGTCAGTGAGGGAAAG -3'
(R):5'- CCAGCCTTCTTGGAAAGACGTTTG -3'

Posted On

2018-05-21