Mutagenetix > Incidental Mutation

Incidental Mutation 'R7244:Cyp2c54'

563438

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40047509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 319 (V319A)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048959
AA Change: V319A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: V319A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,131,269	F983L	probably damaging	Het
Cc2d1b	T	A	4: 108,629,602	M632K	probably benign	Het
Cdyl2	G	A	8: 116,575,260	R461*	probably null	Het
Cfap57	G	A	4: 118,554,800	Q1216*	probably null	Het
Chd1l	A	T	3: 97,597,750	V167E	probably damaging	Het
Col6a1	C	A	10: 76,717,408	G391*	probably null	Het
Ctsc	C	A	7: 88,302,222	Q226K	probably benign	Het
Dnah7b	T	C	1: 46,277,143	S3139P	probably damaging	Het
Edrf1	T	C	7: 133,654,350	S643P	probably benign	Het
Fam186a	A	T	15: 99,946,392	V657D	unknown	Het
Fkbp11	A	G	15: 98,728,192		probably benign	Het
Fsip2	G	A	2: 82,993,263	A6447T	possibly damaging	Het
Gm13101	A	T	4: 143,965,885	M182K	probably benign	Het
Gm7030	C	A	17: 36,127,604		probably null	Het
Hydin	A	G	8: 110,549,675	D3017G	probably damaging	Het
Ifi205	G	A	1: 174,017,644	Q191*	probably null	Het
Mbd4	C	T	6: 115,844,603	D484N	probably benign	Het
Med24	C	T	11: 98,714,397		probably null	Het
Mis18bp1	T	C	12: 65,161,630	N103S	probably damaging	Het
Mmd2	T	C	5: 142,564,832	H217R	probably damaging	Het
Mn1	C	T	5: 111,418,833	T223M	possibly damaging	Het
Ms4a4a	A	G	19: 11,381,430	Y84C	probably damaging	Het
Mup5	A	T	4: 61,831,581		probably null	Het
Mybl2	C	T	2: 163,082,685	P658S	probably benign	Het
Mycbp2	C	A	14: 103,208,909	V1828L	probably damaging	Het
Myh15	T	C	16: 49,196,786	Y1887H	probably damaging	Het
Nadk2	A	G	15: 9,083,191		probably null	Het
Nsd3	A	G	8: 25,666,039	N541D	probably damaging	Het
Olfr556	G	T	7: 102,669,839		probably benign	Het
Olfr675	A	G	7: 105,024,941	V13A	probably benign	Het
Oxa1l	A	T	14: 54,360,855	M1L	probably benign	Het
Pcdha11	A	T	18: 37,011,368	R171*	probably null	Het
Pkd1l1	A	T	11: 8,871,771	V1641E		Het
Prom1	T	A	5: 44,020,900	I497L	probably benign	Het
Rasgef1b	T	C	5: 99,558,894	K41E	possibly damaging	Het
Rasgrf1	T	C	9: 89,994,757	F725S	probably damaging	Het
Ryr2	T	A	13: 11,597,146	S3962C	probably damaging	Het
Sema5b	A	T	16: 35,660,545	T829S	probably benign	Het
Tdp2	A	G	13: 24,841,301	D351G	probably benign	Het
Tet3	A	T	6: 83,370,621	D1130E	probably damaging	Het
Tg	T	C	15: 66,740,714	C1993R	probably damaging	Het
Tll1	T	C	8: 64,025,188	I844V	probably benign	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Vmn2r109	A	G	17: 20,540,683	V804A	possibly damaging	Het
Vps13c	T	C	9: 67,889,804	V491A	probably benign	Het
Xpo5	G	T	17: 46,214,625	G233C	probably damaging	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
R6182:Cyp2c54	UTSW	19	40047561	missense	probably benign
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
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'- GGGAATCCAGAACACATATTCTCTAC -3'
(R):5'- TGTTGGCCACAAAATGAAGTTATCC -3'

Sequencing Primer
(F):5'- CTTTTATTAGTCACCCTCCTCATTAC -3'
(R):5'- TTGGTGGGACAGAGTCAA -3'

Posted On

2019-06-26