Mutagenetix > Incidental Mutation

Incidental Mutation 'R9426:Coq10b'

712604

Institutional Source

Beutler Lab

Gene Symbol

Coq10b

Ensembl Gene

ENSMUSG00000025981

Gene Name

coenzyme Q10B

Synonyms

1700030I21Rik, 9530077A17Rik, 1500041J02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R9426 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55091929-55111861 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 55106719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 175 (L175V)

Ref Sequence

ENSEMBL: ENSMUSP00000027125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027125] [ENSMUST00000087617]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027125
AA Change: L175V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027125
Gene: ENSMUSG00000025981
AA Change: L175V

Domain	Start	End	E-Value	Type
Pfam:Polyketide_cyc	88	217	2.7e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087617
AA Change: L125V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084899
Gene: ENSMUSG00000025981
AA Change: L125V

Domain	Start	End	E-Value	Type
Pfam:Polyketide_cyc	38	167	4.7e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,851,264 (GRCm39)	D2159G	possibly damaging	Het
Adamts8	A	G	9: 30,864,721 (GRCm39)	Y404C	possibly damaging	Het
Adprhl1	A	G	8: 13,274,034 (GRCm39)	F908S	possibly damaging	Het
Arhgef16	A	C	4: 154,366,300 (GRCm39)	L489R	probably damaging	Het
Asmt	G	A	X: 169,110,199 (GRCm39)	G236E	probably damaging	Het
Ces2e	A	G	8: 105,656,220 (GRCm39)	Y177C	probably damaging	Het
Cfap43	A	G	19: 47,814,237 (GRCm39)	I199T	probably damaging	Het
Chac1	T	A	2: 119,183,914 (GRCm39)	F172Y	possibly damaging	Het
Cldnd2	A	T	7: 43,092,688 (GRCm39)	I160F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpne6	T	C	14: 55,751,176 (GRCm39)		probably null	Het
Dnai4	A	T	4: 102,906,743 (GRCm39)	I690N	probably damaging	Het
Eif2b3	C	A	4: 116,923,578 (GRCm39)	Y264*	probably null	Het
Fcgbpl1	A	T	7: 27,843,281 (GRCm39)	H723L	possibly damaging	Het
Fhod1	C	T	8: 106,056,490 (GRCm39)	R1100Q	probably benign	Het
Hao1	T	A	2: 134,347,555 (GRCm39)	H250L	probably benign	Het
Has3	A	G	8: 107,600,823 (GRCm39)	Y95C	probably damaging	Het
Hoxc10	A	T	15: 102,879,289 (GRCm39)	K270*	probably null	Het
Kcnq5	A	G	1: 21,473,118 (GRCm39)	F710L	probably benign	Het
Knl1	C	T	2: 118,899,979 (GRCm39)	T560I	possibly damaging	Het
Ltbp1	C	T	17: 75,598,309 (GRCm39)	R597W	possibly damaging	Het
Nfib	T	G	4: 82,416,529 (GRCm39)	T170P	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Optn	T	A	2: 5,059,485 (GRCm39)	E11V	possibly damaging	Het
Or4d2b	A	T	11: 87,780,056 (GRCm39)	L222Q	probably damaging	Het
Phf3	A	T	1: 30,870,625 (GRCm39)	L141*	probably null	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prkcg	C	T	7: 3,375,975 (GRCm39)	S540F	probably damaging	Het
Ptbp1	T	A	10: 79,694,897 (GRCm39)	I75N	probably damaging	Het
R3hdm1	T	C	1: 128,164,212 (GRCm39)	L1042P	probably damaging	Het
Scmh1	T	C	4: 120,362,556 (GRCm39)	V264A	probably benign	Het
Sec23a	A	G	12: 59,053,890 (GRCm39)	V36A	probably benign	Het
Senp2	A	G	16: 21,828,491 (GRCm39)	S34G	probably damaging	Het
Serpina3a	A	G	12: 104,087,649 (GRCm39)	N191D	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smchd1	C	T	17: 71,672,125 (GRCm39)	S1643N	probably benign	Het
Snrk	T	A	9: 121,986,326 (GRCm39)	Y232N	probably damaging	Het
Spata31h1	T	A	10: 82,126,610 (GRCm39)	K2133N	probably damaging	Het
Spmip3	T	A	1: 177,570,834 (GRCm39)	L56*	probably null	Het
St6galnac6	T	C	2: 32,505,094 (GRCm39)	I202T	probably damaging	Het
Stab2	T	C	10: 86,704,911 (GRCm39)	K1819R	probably damaging	Het
Strn3	T	C	12: 51,694,873 (GRCm39)	T297A	probably damaging	Het
Sult1b1	T	A	5: 87,665,280 (GRCm39)	E218V	probably damaging	Het
Tcp10c	T	C	17: 13,584,463 (GRCm39)	S275P	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Urb2	T	G	8: 124,755,285 (GRCm39)	L331V	probably damaging	Het
Zfp592	A	T	7: 80,674,205 (GRCm39)	T390S	probably damaging	Het

Other mutations in Coq10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Coq10b	APN	1	55,100,468 (GRCm39)	missense	probably benign
IGL00697:Coq10b	APN	1	55,100,424 (GRCm39)	splice site	probably null
R1517:Coq10b	UTSW	1	55,103,416 (GRCm39)	missense	probably damaging	1.00
R1751:Coq10b	UTSW	1	55,100,513 (GRCm39)	missense	probably damaging	0.99
R1767:Coq10b	UTSW	1	55,100,513 (GRCm39)	missense	probably damaging	0.99
R2195:Coq10b	UTSW	1	55,100,457 (GRCm39)	missense	probably damaging	1.00
R2421:Coq10b	UTSW	1	55,092,136 (GRCm39)	missense	probably benign	0.00
R4796:Coq10b	UTSW	1	55,110,957 (GRCm39)	missense	probably damaging	1.00
R4851:Coq10b	UTSW	1	55,110,903 (GRCm39)	missense	probably benign	0.13
R5367:Coq10b	UTSW	1	55,092,143 (GRCm39)	missense	probably benign
R5534:Coq10b	UTSW	1	55,103,359 (GRCm39)	missense	possibly damaging	0.83
R5979:Coq10b	UTSW	1	55,092,077 (GRCm39)	missense	probably benign	0.00
R7402:Coq10b	UTSW	1	55,100,500 (GRCm39)	missense	probably benign	0.00
R7836:Coq10b	UTSW	1	55,092,013 (GRCm39)	start gained	probably benign
R7931:Coq10b	UTSW	1	55,092,152 (GRCm39)	splice site	probably benign
R9292:Coq10b	UTSW	1	55,110,868 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAGCAATTACGTCCGC -3'
(R):5'- TGCATAAACTGGGGCTAGCAAG -3'

Sequencing Primer
(F):5'- TTACGTCCGCACAGAACTAAGTAG -3'
(R):5'- GCTAGCAAGATAGCTCAGTGACAC -3'

Posted On

2022-05-16