Mutagenetix > Incidental Mutation

Incidental Mutation 'R2898:Coq9'

261361

Institutional Source

Beutler Lab

Gene Symbol

Coq9

Ensembl Gene

ENSMUSG00000031782

Gene Name

coenzyme Q9

Synonyms

2310005O14Rik

MMRRC Submission

040486-MU

Accession Numbers

Essential gene?

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

Stock #

R2898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95565041-95581523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95579752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 236 (Y236H)

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: Y236H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: Y236H

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: Y201H

SMART Domains

Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782
AA Change: Y201H

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: Y1H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212120

Predicted Effect

probably benign
Transcript: ENSMUST00000212124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212744

Predicted Effect

probably benign
Transcript: ENSMUST00000211939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161208

Meta Mutation Damage Score

0.9576

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	C	T	4: 155,987,916 (GRCm39)	R547C	possibly damaging	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adcy6	A	G	15: 98,491,369 (GRCm39)	S1075P	probably damaging	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Bnipl	T	A	3: 95,150,360 (GRCm39)	H219L	probably benign	Het
Brwd1	C	A	16: 95,867,300 (GRCm39)	M178I	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Cit	A	G	5: 116,012,037 (GRCm39)		probably null	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Dnah10	G	A	5: 124,894,734 (GRCm39)	R3433H	probably damaging	Het
Dnmt3b	G	T	2: 153,509,550 (GRCm39)	V268L	possibly damaging	Het
Fbxw21	T	C	9: 108,985,404 (GRCm39)	T125A	possibly damaging	Het
Fzd9	T	G	5: 135,278,700 (GRCm39)	D395A	probably damaging	Het
Gfm2	T	C	13: 97,309,469 (GRCm39)	V642A	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmgxb3	C	T	18: 61,288,368 (GRCm39)	V500M	probably benign	Het
Hnf1a	C	T	5: 115,098,106 (GRCm39)	W165*	probably null	Het
Hsd3b1	A	T	3: 98,760,623 (GRCm39)	C123S	probably benign	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lmo7	A	G	14: 102,114,350 (GRCm39)	T31A	possibly damaging	Het
Lrrc15	C	T	16: 30,092,604 (GRCm39)	R245H	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myo7a	G	T	7: 97,703,631 (GRCm39)	Y2003*	probably null	Het
Myo7a	T	C	7: 97,746,413 (GRCm39)	N246D	probably damaging	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Or51g1	T	A	7: 102,634,084 (GRCm39)	I96F	probably benign	Het
Or8b1c	T	C	9: 38,384,271 (GRCm39)	V76A	probably damaging	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Ppp1r10	A	G	17: 36,239,784 (GRCm39)	K501R	probably damaging	Het
Ppp1r9a	C	T	6: 4,906,558 (GRCm39)	T371I	probably benign	Het
Prpf8	A	T	11: 75,386,860 (GRCm39)	T1102S	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sacm1l	T	C	9: 123,389,666 (GRCm39)		probably null	Het
Sema6c	C	A	3: 95,080,129 (GRCm39)	L776M	probably damaging	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Sh2b3	A	T	5: 121,967,111 (GRCm39)	M1K	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Spty2d1	T	A	7: 46,643,100 (GRCm39)	M664L	unknown	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Taok3	A	G	5: 117,338,134 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,635,122 (GRCm39)	N562D	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thumpd2	C	T	17: 81,351,557 (GRCm39)	W288*	probably null	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm1	T	C	9: 66,938,322 (GRCm39)	D254G	probably damaging	Het
Usp53	A	T	3: 122,751,223 (GRCm39)	L278*	probably null	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	probably damaging	Het
Zfp777	C	T	6: 48,002,594 (GRCm39)	E543K	probably damaging	Het
Zfp81	A	T	17: 33,553,274 (GRCm39)	C513*	probably null	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
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
R6460:Coq9	UTSW	8	95,579,814 (GRCm39)	missense	probably damaging	0.99
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'- AGGCAGTTTTGATAACCAACCAAG -3'
(R):5'- ATGTTTGAGACAGACGGGTG -3'

Sequencing Primer
(F):5'- TTGATAACCAACCAAGTTCAGGG -3'
(R):5'- TGCCTACTGAAAAGGGGTTCC -3'

Posted On

2015-01-23