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: 0.125) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40026384-40062271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40036005 bp (GRCm39)

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: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Ctsl	T	C	13: 64,515,786 (GRCm39)	Y95C	probably damaging	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Mtmr14	A	G	6: 113,246,469 (GRCm39)	S81G	possibly damaging	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Or5k1	A	G	16: 58,617,655 (GRCm39)	Y185H	probably damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina3c	C	A	12: 104,115,690 (GRCm39)	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Stox1	A	G	10: 62,500,721 (GRCm39)	L613P	probably damaging	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	probably benign	Het

Other mutations in Cyp2c54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Cyp2c54	APN	19	40,060,522 (GRCm39)	missense	probably damaging	1.00
IGL02694:Cyp2c54	APN	19	40,035,987 (GRCm39)	missense	possibly damaging	0.55
IGL03170:Cyp2c54	APN	19	40,060,809 (GRCm39)	critical splice donor site	probably null
IGL03175:Cyp2c54	APN	19	40,058,672 (GRCm39)	missense	probably benign	0.00
R0097:Cyp2c54	UTSW	19	40,036,103 (GRCm39)	splice site	probably benign
R0097:Cyp2c54	UTSW	19	40,036,102 (GRCm39)	splice site	probably benign
R0391:Cyp2c54	UTSW	19	40,060,613 (GRCm39)	missense	possibly damaging	0.61
R0581:Cyp2c54	UTSW	19	40,035,999 (GRCm39)	missense	probably benign	0.23
R0787:Cyp2c54	UTSW	19	40,036,079 (GRCm39)	missense	probably benign	0.12
R1253:Cyp2c54	UTSW	19	40,034,629 (GRCm39)	missense	probably damaging	1.00
R1481:Cyp2c54	UTSW	19	40,036,032 (GRCm39)	missense	probably benign	0.30
R1604:Cyp2c54	UTSW	19	40,058,787 (GRCm39)	missense	probably benign	0.01
R3624:Cyp2c54	UTSW	19	40,058,688 (GRCm39)	missense	probably benign	0.21
R3871:Cyp2c54	UTSW	19	40,060,867 (GRCm39)	missense	probably benign	0.37
R3983:Cyp2c54	UTSW	19	40,034,699 (GRCm39)	missense	possibly damaging	0.49
R4401:Cyp2c54	UTSW	19	40,060,615 (GRCm39)	missense	probably benign	0.04
R4416:Cyp2c54	UTSW	19	40,026,703 (GRCm39)	missense	probably benign	0.04
R4962:Cyp2c54	UTSW	19	40,060,585 (GRCm39)	missense	possibly damaging	0.90
R5203:Cyp2c54	UTSW	19	40,060,918 (GRCm39)	missense	probably damaging	1.00
R5634:Cyp2c54	UTSW	19	40,060,858 (GRCm39)	missense	possibly damaging	0.84
R6083:Cyp2c54	UTSW	19	40,062,206 (GRCm39)	missense	probably benign	0.20
R6754:Cyp2c54	UTSW	19	40,060,004 (GRCm39)	missense	probably damaging	1.00
R6901:Cyp2c54	UTSW	19	40,058,703 (GRCm39)	missense	probably damaging	1.00
R6948:Cyp2c54	UTSW	19	40,034,636 (GRCm39)	missense	possibly damaging	0.73
R7215:Cyp2c54	UTSW	19	40,034,626 (GRCm39)	missense	probably damaging	1.00
R7244:Cyp2c54	UTSW	19	40,035,953 (GRCm39)	missense	probably damaging	1.00
R7278:Cyp2c54	UTSW	19	40,058,697 (GRCm39)	nonsense	probably null
R7535:Cyp2c54	UTSW	19	40,058,716 (GRCm39)	missense	probably benign
R7838:Cyp2c54	UTSW	19	40,058,688 (GRCm39)	missense	probably benign	0.21
R8039:Cyp2c54	UTSW	19	40,062,176 (GRCm39)	frame shift	probably null
R8275:Cyp2c54	UTSW	19	40,026,749 (GRCm39)	missense	probably benign	0.00
R8340:Cyp2c54	UTSW	19	40,060,831 (GRCm39)	missense	possibly damaging	0.94
R8367:Cyp2c54	UTSW	19	40,062,125 (GRCm39)	missense	probably damaging	0.99
R8477:Cyp2c54	UTSW	19	40,058,708 (GRCm39)	missense	probably benign	0.43
R8487:Cyp2c54	UTSW	19	40,059,990 (GRCm39)	missense	probably damaging	1.00
R8519:Cyp2c54	UTSW	19	40,026,857 (GRCm39)	missense	probably damaging	0.99
R8534:Cyp2c54	UTSW	19	40,036,030 (GRCm39)	missense	probably damaging	0.99
R8858:Cyp2c54	UTSW	19	40,062,227 (GRCm39)	missense	probably benign	0.00
R9215:Cyp2c54	UTSW	19	40,035,950 (GRCm39)	missense	possibly damaging	0.52
R9236:Cyp2c54	UTSW	19	40,060,938 (GRCm39)	nonsense	probably null
R9470:Cyp2c54	UTSW	19	40,060,888 (GRCm39)	missense	probably damaging	1.00
R9792:Cyp2c54	UTSW	19	40,034,525 (GRCm39)	missense	probably damaging	1.00
Z1176:Cyp2c54	UTSW	19	40,034,659 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2c54	UTSW	19	40,062,201 (GRCm39)	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