Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Coq9'

538599

Institutional Source

Beutler Lab

Gene Symbol

Coq9

Ensembl Gene

ENSMUSG00000031782

Gene Name

coenzyme Q9

Synonyms

2310005O14Rik

MMRRC Submission

045032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95565041-95581523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95577180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 182 (E182K)

Ref Sequence

ENSEMBL: ENSMUSP00000124695 (fasta)

Gene Model

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

AlphaFold

Q8K1Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000034234
AA Change: E182K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: E182K

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: ENSMUST00000159871
AA Change: E182K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782
AA Change: E182K

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

probably benign
Transcript: ENSMUST00000211859

Meta Mutation Damage Score

0.2459

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,624,680 (GRCm39)		probably benign	Het
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,837,434 (GRCm39)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,429,381 (GRCm39)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm39)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm39)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,804,733 (GRCm39)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,769,579 (GRCm39)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Cog2	A	G	8: 125,273,430 (GRCm39)	K590E	probably damaging	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Focad	C	T	4: 88,148,713 (GRCm39)	R477C	unknown	Het
Gja10	G	T	4: 32,601,905 (GRCm39)	H160N	probably damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Herc2	A	G	7: 55,785,234 (GRCm39)	T1495A	probably benign	Het
Hivep3	T	A	4: 119,953,192 (GRCm39)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Igf1r	T	A	7: 67,653,911 (GRCm39)	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Krt79	T	C	15: 101,840,314 (GRCm39)	N294S	probably benign	Het
Lama2	T	G	10: 26,857,625 (GRCm39)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,159,238 (GRCm39)	C386G	probably benign	Het
Lrp2	T	C	2: 69,289,847 (GRCm39)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Mmp2	G	A	8: 93,563,545 (GRCm39)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,293,447 (GRCm39)	I35F	probably benign	Het
Myo5b	A	T	18: 74,809,756 (GRCm39)	I613F	possibly damaging	Het
Nicol1	G	A	5: 34,140,923 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,114,995 (GRCm39)	C125*	probably null	Het
Or51f1e	A	T	7: 102,747,562 (GRCm39)	I205F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Papolb	T	A	5: 142,513,906 (GRCm39)	H579L	probably benign	Het
Pcf11	C	A	7: 92,307,507 (GRCm39)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,289,829 (GRCm39)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,442,300 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,645 (GRCm39)	V365I	probably benign	Het
Shank1	T	A	7: 44,006,239 (GRCm39)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,665 (GRCm39)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 26,913,172 (GRCm39)	V374M	probably benign	Het
Spata1	A	T	3: 146,181,078 (GRCm39)	N293K	possibly damaging	Het
Stk40	T	A	4: 126,031,605 (GRCm39)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Tomm70a	T	C	16: 56,958,444 (GRCm39)	S266P	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,487,673 (GRCm39)		probably null	Het
Zfp961	A	G	8: 72,722,522 (GRCm39)	K345R	probably 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
R6460:Coq9	UTSW	8	95,579,814 (GRCm39)	missense	probably damaging	0.99
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'- CCAGAGTAGTGCTAACAGCC -3'
(R):5'- CCCTAGCAAGAATCTAGCTCTGC -3'

Sequencing Primer
(F):5'- CCTGGACAGGTCTGAAATCCAG -3'
(R):5'- GAATCTAGCTCTGCCAAGTGC -3'

Posted On

2018-11-06