Mutagenetix > Incidental Mutation

Incidental Mutation 'R6948:Cyp2c54'

540991

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c54

Ensembl Gene

ENSMUSG00000067225

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 54

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R6948 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40037941-40073811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40046192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 345 (M345L)

Ref Sequence

ENSEMBL: ENSMUSP00000048284 (fasta)

Gene Model

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

AlphaFold

Q6XVG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048959
AA Change: M345L

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048284
Gene: ENSMUSG00000067225
AA Change: M345L

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: 99.4%
20x: 98.0%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	A	G	2: 91,267,179	T107A	probably benign	Het
Calhm3	T	A	19: 47,151,905	M250L	probably damaging	Het
Catsperb	A	T	12: 101,481,068	I276L	probably benign	Het
Ccdc129	C	T	6: 55,978,485	T1026I	probably benign	Het
Cd70	T	C	17: 57,149,594	E3G	probably damaging	Het
Cenpj	A	T	14: 56,553,226	S455R	probably damaging	Het
Cgn	C	G	3: 94,773,221	E590D	probably benign	Het
Cpvl	T	A	6: 53,896,483	I423F	possibly damaging	Het
Dner	T	C	1: 84,406,017	N549D	probably damaging	Het
Fat4	T	A	3: 39,009,446	L4517Q	probably damaging	Het
Fbxw11	A	G	11: 32,742,597	T523A	probably damaging	Het
Flg	A	G	3: 93,288,168		probably benign	Het
Gcfc2	A	G	6: 81,933,753	E237G	probably benign	Het
Ipo5	G	T	14: 120,923,115	M181I	probably benign	Het
Klhl32	A	G	4: 24,629,250	Y506H	probably benign	Het
Mast3	G	A	8: 70,785,482	T505I	probably damaging	Het
Mrgprx2	A	T	7: 48,482,716	V118D	possibly damaging	Het
Mtor	T	G	4: 148,536,752	V1869G	probably benign	Het
Mycbp2	A	T	14: 103,285,267	M720K	possibly damaging	Het
Npy4r	A	G	14: 34,146,774	Y186H	probably benign	Het
Obscn	A	G	11: 59,106,316	S1520P	probably damaging	Het
Olfr1511	A	T	14: 52,390,157	F205L	probably benign	Het
Pex1	A	G	5: 3,605,994	N274D	probably benign	Het
Plxnb1	T	C	9: 109,116,634	Y2078H	probably damaging	Het
Rasgrp1	T	C	2: 117,298,604	D178G	probably damaging	Het
Reln	A	G	5: 21,972,035	S1878P	probably damaging	Het
Rims2	T	C	15: 39,511,341	V1033A	probably benign	Het
Scaf1	G	T	7: 45,013,547	S14*	probably null	Het
Serpinb9d	A	G	13: 33,200,723	S228G	possibly damaging	Het
Slc22a14	C	A	9: 119,231,416	A93S	probably damaging	Het
Sox30	G	A	11: 46,017,339	V778M	probably damaging	Het
Tecrl	T	C	5: 83,309,250	I128V	probably benign	Het
Trip10	T	A	17: 57,262,448	C491S	probably damaging	Het
Vmn1r26	A	T	6: 58,008,733	M157K	probably damaging	Het
Zbtb1	A	T	12: 76,385,827	S196C	probably damaging	Het
Zfp236	T	C	18: 82,644,062	D582G	possibly damaging	Het
Zfp384	A	G	6: 125,024,910	T125A	probably benign	Het
Zpr1	T	G	9: 46,273,641		probably null	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
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'- CTATCCCATCCATGAATCAGCATAAGG -3'
(R):5'- CACTTTAAGGCACCTTCATTATGC -3'

Sequencing Primer
(F):5'- GGCACTCATAGCACTATATGACTCTG -3'
(R):5'- CACCTTTCACTGTGACCA -3'

Posted On

2018-11-28