Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Cyp2c54'

487068

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40047561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 302 (M302V)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048959]

AlphaFold

Q6XVG2

Predicted Effect

probably benign
Transcript: ENSMUST00000048959
AA Change: M302V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: M302V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:p450	30	487	2.2e-159	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,192,436	S884P	probably benign	Het
Akap13	C	A	7: 75,586,280	A201E	probably benign	Het
Ccdc151	A	G	9: 21,990,402	F553S	probably damaging	Het
Ces1f	T	G	8: 93,256,496	E540A	probably benign	Het
Chid1	T	A	7: 141,528,502	M137L	probably benign	Het
Chsy3	A	G	18: 59,179,342	T296A	probably benign	Het
Clec4f	A	G	6: 83,645,302	V519A	probably benign	Het
Clk4	T	A	11: 51,268,182	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 57,876,395	D32G	probably benign	Het
Ctsl	T	C	13: 64,367,972	Y95C	probably damaging	Het
Cyp2c65	C	G	19: 39,061,162	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Daam1	C	T	12: 71,959,887	Q693*	probably null	Het
Dgcr8	A	T	16: 18,280,308	D406E	probably benign	Het
Dock2	G	T	11: 34,229,476	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,507,817	R940H	probably damaging	Het
Erc2	A	C	14: 28,317,253	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,815,771		probably null	Het
Frem2	T	A	3: 53,647,969	I1716F	probably damaging	Het
Fus	A	G	7: 127,977,293	D295G	probably damaging	Het
Gm5093	A	G	17: 46,439,642	I153T	probably benign	Het
Gnptab	T	C	10: 88,429,480	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,278,414	D150G	probably benign	Het
Gsc2	A	G	16: 17,913,619	*215R	probably null	Het
Hectd3	T	C	4: 117,000,279	S552P	probably damaging	Het
Katnal1	C	A	5: 148,904,597	K152N	possibly damaging	Het
Kcnh1	A	T	1: 192,191,053	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,745,794	D105G	probably benign	Het
Mon2	T	C	10: 123,038,659		probably null	Het
Mpp6	A	G	6: 50,198,226	I506V	probably benign	Het
Mroh9	G	A	1: 163,066,043	Q188*	probably null	Het
Mtmr14	A	G	6: 113,269,508	S81G	possibly damaging	Het
Nrap	T	A	19: 56,361,698	M628L	probably benign	Het
Olfr107	T	A	17: 37,405,992	I148K	possibly damaging	Het
Olfr173	A	G	16: 58,797,292	Y185H	probably damaging	Het
Pate4	A	T	9: 35,608,290	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,865,555	E1452G	probably benign	Het
Pld5	T	C	1: 176,044,854	D239G	probably benign	Het
Ppef2	C	T	5: 92,227,066	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,628,455		probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Serpina3c	C	A	12: 104,149,431	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,334,422	S302P	probably damaging	Het
Sis	C	T	3: 72,904,293	V1642I	probably benign	Het
Slc12a4	G	A	8: 105,947,899	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,600,956	N225K	probably benign	Het
Snrnp70	G	A	7: 45,377,073	R291*	probably null	Het
Spin1	C	T	13: 51,144,338	T131I	probably benign	Het
St18	T	G	1: 6,844,118		probably null	Het
Stox1	A	G	10: 62,664,942	L613P	probably damaging	Het
Tgm3	T	G	2: 130,025,301	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402	I809V	probably benign	Het
Tnc	T	A	4: 64,008,796	D831V	probably damaging	Het
Ttll13	A	T	7: 80,260,233	E762D	probably benign	Het
Unc5b	A	T	10: 60,765,236	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,637,328	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,030,245	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,811,749	V761A	probably damaging	Het
Wdr48	G	T	9: 119,924,766	G665W	probably damaging	Het
Xpot	T	A	10: 121,606,258	R550S	probably damaging	Het
Ydjc	A	G	16: 17,147,079	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,390,859	T274A	probably benign	Het
Zfp202	G	A	9: 40,207,342	G17E	probably damaging	Het
Zfp788	T	A	7: 41,650,516	C859S	probably damaging	Het
Zscan4c	T	C	7: 11,006,782	M76T	probably benign	Het

Other mutations in Cyp2c54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Cyp2c54	APN	19	40072078	missense	probably damaging	1.00
IGL02694:Cyp2c54	APN	19	40047543	missense	possibly damaging	0.55
IGL03170:Cyp2c54	APN	19	40072365	critical splice donor site	probably null
IGL03175:Cyp2c54	APN	19	40070228	missense	probably benign	0.00
R0097:Cyp2c54	UTSW	19	40047658	splice site	probably benign
R0097:Cyp2c54	UTSW	19	40047659	splice site	probably benign
R0391:Cyp2c54	UTSW	19	40072169	missense	possibly damaging	0.61
R0581:Cyp2c54	UTSW	19	40047555	missense	probably benign	0.23
R0787:Cyp2c54	UTSW	19	40047635	missense	probably benign	0.12
R1253:Cyp2c54	UTSW	19	40046185	missense	probably damaging	1.00
R1481:Cyp2c54	UTSW	19	40047588	missense	probably benign	0.30
R1604:Cyp2c54	UTSW	19	40070343	missense	probably benign	0.01
R3624:Cyp2c54	UTSW	19	40070244	missense	probably benign	0.21
R3871:Cyp2c54	UTSW	19	40072423	missense	probably benign	0.37
R3983:Cyp2c54	UTSW	19	40046255	missense	possibly damaging	0.49
R4401:Cyp2c54	UTSW	19	40072171	missense	probably benign	0.04
R4416:Cyp2c54	UTSW	19	40038259	missense	probably benign	0.04
R4962:Cyp2c54	UTSW	19	40072141	missense	possibly damaging	0.90
R5203:Cyp2c54	UTSW	19	40072474	missense	probably damaging	1.00
R5634:Cyp2c54	UTSW	19	40072414	missense	possibly damaging	0.84
R6083:Cyp2c54	UTSW	19	40073762	missense	probably benign	0.20
R6754:Cyp2c54	UTSW	19	40071560	missense	probably damaging	1.00
R6901:Cyp2c54	UTSW	19	40070259	missense	probably damaging	1.00
R6948:Cyp2c54	UTSW	19	40046192	missense	possibly damaging	0.73
R7215:Cyp2c54	UTSW	19	40046182	missense	probably damaging	1.00
R7244:Cyp2c54	UTSW	19	40047509	missense	probably damaging	1.00
R7278:Cyp2c54	UTSW	19	40070253	nonsense	probably null
R7535:Cyp2c54	UTSW	19	40070272	missense	probably benign
R7838:Cyp2c54	UTSW	19	40070244	missense	probably benign	0.21
R8039:Cyp2c54	UTSW	19	40073732	frame shift	probably null
R8275:Cyp2c54	UTSW	19	40038305	missense	probably benign	0.00
R8340:Cyp2c54	UTSW	19	40072387	missense	possibly damaging	0.94
R8367:Cyp2c54	UTSW	19	40073681	missense	probably damaging	0.99
R8477:Cyp2c54	UTSW	19	40070264	missense	probably benign	0.43
R8487:Cyp2c54	UTSW	19	40071546	missense	probably damaging	1.00
R8519:Cyp2c54	UTSW	19	40038413	missense	probably damaging	0.99
R8534:Cyp2c54	UTSW	19	40047586	missense	probably damaging	0.99
R8858:Cyp2c54	UTSW	19	40073783	missense	probably benign	0.00
R9215:Cyp2c54	UTSW	19	40047506	missense	possibly damaging	0.52
R9236:Cyp2c54	UTSW	19	40072494	nonsense	probably null
R9470:Cyp2c54	UTSW	19	40072444	missense	probably damaging	1.00
R9792:Cyp2c54	UTSW	19	40046081	missense	probably damaging	1.00
Z1176:Cyp2c54	UTSW	19	40046215	missense	probably damaging	1.00
Z1177:Cyp2c54	UTSW	19	40073757	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCACCCTCCTCATTACAGACAGTG -3'
(R):5'- ATTTAGAGACAGTGTGTTGGCCAC -3'

Sequencing Primer
(F):5'- TCCTCATTACAGACAGTGAAACAG -3'
(R):5'- AGGAAGATGACAATCATCCT -3'

Posted On

2017-10-10