Mutagenetix > Incidental Mutation

Incidental Mutation 'R4436:Coq9'

377821

Institutional Source

Beutler Lab

Gene Symbol

Coq9

Ensembl Gene

ENSMUSG00000031782

Gene Name

coenzyme Q9

Synonyms

2310005O14Rik

MMRRC Submission

041702-MU

Accession Numbers

Essential gene?

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

Stock #

R4436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95565041-95581523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95579743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 198 (F198L)

Ref Sequence

ENSEMBL: ENSMUSP00000124695 (fasta)

Gene Model

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

AlphaFold

Q8K1Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000034234
AA Change: F233L

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

SMART Domains

Protein: ENSMUSP00000034234
Gene: ENSMUSG00000031782
AA Change: F233L

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

probably benign
Transcript: ENSMUST00000159871
AA Change: F198L

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

SMART Domains

Protein: ENSMUSP00000124695
Gene: ENSMUSG00000031782
AA Change: F198L

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

noncoding transcript
Transcript: ENSMUST00000161208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212744

Predicted Effect

probably benign
Transcript: ENSMUST00000211939

Predicted Effect

probably benign
Transcript: ENSMUST00000211859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212120

Predicted Effect

probably benign
Transcript: ENSMUST00000212124

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

96% (54/56)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,248,768 (GRCm39)	I779V	possibly damaging	Het
Asap1	T	G	15: 64,221,692 (GRCm39)	D15A	probably benign	Het
Ascc2	A	G	11: 4,606,305 (GRCm39)	D193G	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Ccdc168	T	C	1: 44,095,276 (GRCm39)	I1941V	probably benign	Het
Ccdc85a	T	C	11: 28,526,457 (GRCm39)	T384A	probably benign	Het
Cd86	T	C	16: 36,441,194 (GRCm39)	N91S	probably benign	Het
Cdk17	T	A	10: 93,047,758 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,636,637 (GRCm39)	D332G	probably null	Het
Ces2f	G	A	8: 105,679,788 (GRCm39)	R427H	probably benign	Het
Clec4a2	G	A	6: 123,105,013 (GRCm39)		probably null	Het
Coa8	T	A	12: 111,717,642 (GRCm39)	D167E	probably benign	Het
Ddx24	C	A	12: 103,390,233 (GRCm39)	A253S	probably damaging	Het
Esyt3	A	T	9: 99,240,078 (GRCm39)		probably benign	Het
Fat2	C	A	11: 55,187,024 (GRCm39)	G1274V	probably damaging	Het
Ggn	A	T	7: 28,870,976 (GRCm39)	T132S	probably damaging	Het
Gm11568	T	A	11: 99,749,421 (GRCm39)	C209S	unknown	Het
Gm6931	T	A	16: 49,245,225 (GRCm39)		noncoding transcript	Het
Gpr20	C	T	15: 73,567,649 (GRCm39)	V247I	probably benign	Het
Grm8	A	T	6: 27,761,237 (GRCm39)	V329E	possibly damaging	Het
Gtf2ird2	T	C	5: 134,223,808 (GRCm39)	L114P	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hivep3	C	T	4: 119,953,120 (GRCm39)	P479S	probably benign	Het
Igkv6-20	A	G	6: 70,313,104 (GRCm39)	V23A	probably damaging	Het
Ikbip	T	A	10: 90,937,751 (GRCm39)	N141K	probably damaging	Het
Irag1	T	C	7: 110,476,124 (GRCm39)	E815G	probably damaging	Het
Krt77	A	T	15: 101,773,904 (GRCm39)	V250E	probably damaging	Het
Ltn1	A	T	16: 87,202,502 (GRCm39)	C1050S	probably benign	Het
Macf1	T	C	4: 123,421,135 (GRCm39)	I40V	probably benign	Het
Or2h2b-ps1	A	G	17: 37,480,727 (GRCm39)	F271L	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pi4ka	T	C	16: 17,100,246 (GRCm39)	M1885V	probably damaging	Het
Plek	A	G	11: 16,942,972 (GRCm39)	Y107H	probably damaging	Het
Ppp1r15a	C	T	7: 45,174,203 (GRCm39)	V202M	probably damaging	Het
Ppp1r3e	C	A	14: 55,114,007 (GRCm39)	A222S	probably benign	Het
Rac2	G	T	15: 78,454,943 (GRCm39)	Y32*	probably null	Het
Sdf4	T	G	4: 156,093,404 (GRCm39)		probably null	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Spic	T	A	10: 88,512,817 (GRCm39)	R111S	probably benign	Het
Ssh3	A	G	19: 4,315,394 (GRCm39)	F315L	probably damaging	Het
Ttn	T	C	2: 76,595,253 (GRCm39)	K11972R	probably damaging	Het
Tubd1	C	T	11: 86,439,745 (GRCm39)	S30F	probably benign	Het
Vmn1r17	G	C	6: 57,337,719 (GRCm39)	I166M	possibly damaging	Het
Vmn2r94	T	C	17: 18,478,645 (GRCm39)	Y34C	probably damaging	Het
Xpo7	G	A	14: 70,906,869 (GRCm39)	T945M	probably damaging	Het
Zfp316	C	A	5: 143,239,803 (GRCm39)	A739S	probably damaging	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	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
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'- TTTTGATAACCAACCAAGTTCAGGG -3'
(R):5'- CACATGTTTGAGACAGACGGG -3'

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

Posted On

2016-04-11