Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Cyp2e1'

296305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2e1

Ensembl Gene

ENSMUSG00000025479

Gene Name

cytochrome P450, family 2, subfamily e, polypeptide 1

Synonyms

Cyp2e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

140343732-140354903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140349069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 133 (L133H)

Ref Sequence

ENSEMBL: ENSMUSP00000147845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000209253] [ENSMUST00000210235]

AlphaFold

Q05421

Predicted Effect

probably damaging
Transcript: ENSMUST00000026552
AA Change: L133H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: L133H

Domain	Start	End	E-Value	Type
transmembrane domain	2	23	N/A	INTRINSIC
Pfam:p450	33	489	1.4e-147	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209253
AA Change: L133H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210235
AA Change: L133H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210403

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered responses to xenobiotics including decreased urethane-induced tumors and allylnitrile- or acetamenophen-associated mortality but increased allylnitrile-induced vestibular function loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Cyp2e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Cyp2e1	APN	7	140,349,066 (GRCm39)	missense	probably benign	0.17
IGL01755:Cyp2e1	APN	7	140,354,469 (GRCm39)	critical splice acceptor site	probably null
IGL01884:Cyp2e1	APN	7	140,353,663 (GRCm39)	missense	probably benign	0.16
IGL01950:Cyp2e1	APN	7	140,344,874 (GRCm39)	critical splice donor site	probably null
IGL01964:Cyp2e1	APN	7	140,343,779 (GRCm39)	missense	probably damaging	1.00
IGL02430:Cyp2e1	APN	7	140,350,139 (GRCm39)	missense	probably damaging	1.00
IGL02596:Cyp2e1	APN	7	140,350,031 (GRCm39)	missense	probably damaging	0.99
IGL02725:Cyp2e1	APN	7	140,343,828 (GRCm39)	missense	probably null	1.00
IGL02887:Cyp2e1	APN	7	140,343,824 (GRCm39)	missense	probably damaging	1.00
IGL03114:Cyp2e1	APN	7	140,353,042 (GRCm39)	missense	possibly damaging	0.95
IGL03146:Cyp2e1	APN	7	140,350,134 (GRCm39)	missense	probably benign	0.00
IGL03340:Cyp2e1	APN	7	140,344,767 (GRCm39)	missense	probably damaging	1.00
R1396:Cyp2e1	UTSW	7	140,352,992 (GRCm39)	missense	probably damaging	0.98
R2111:Cyp2e1	UTSW	7	140,353,547 (GRCm39)	missense	probably damaging	1.00
R2230:Cyp2e1	UTSW	7	140,344,827 (GRCm39)	missense	probably damaging	1.00
R2231:Cyp2e1	UTSW	7	140,344,827 (GRCm39)	missense	probably damaging	1.00
R2383:Cyp2e1	UTSW	7	140,349,981 (GRCm39)	missense	probably benign	0.06
R3778:Cyp2e1	UTSW	7	140,343,822 (GRCm39)	missense	possibly damaging	0.58
R4082:Cyp2e1	UTSW	7	140,350,991 (GRCm39)	missense	possibly damaging	0.67
R4707:Cyp2e1	UTSW	7	140,343,821 (GRCm39)	missense	possibly damaging	0.58
R4751:Cyp2e1	UTSW	7	140,354,629 (GRCm39)	nonsense	probably null
R4784:Cyp2e1	UTSW	7	140,343,821 (GRCm39)	missense	possibly damaging	0.58
R4792:Cyp2e1	UTSW	7	140,353,588 (GRCm39)	missense	probably benign
R4917:Cyp2e1	UTSW	7	140,354,527 (GRCm39)	missense	possibly damaging	0.94
R4934:Cyp2e1	UTSW	7	140,350,030 (GRCm39)	missense	probably damaging	1.00
R5092:Cyp2e1	UTSW	7	140,354,648 (GRCm39)	missense	probably damaging	1.00
R5388:Cyp2e1	UTSW	7	140,343,906 (GRCm39)	missense	probably damaging	1.00
R5423:Cyp2e1	UTSW	7	140,350,031 (GRCm39)	missense	probably benign	0.01
R6740:Cyp2e1	UTSW	7	140,343,693 (GRCm39)	unclassified	probably benign
R7065:Cyp2e1	UTSW	7	140,343,906 (GRCm39)	missense	probably damaging	1.00
R7154:Cyp2e1	UTSW	7	140,350,050 (GRCm39)	missense	probably damaging	1.00
R8054:Cyp2e1	UTSW	7	140,350,871 (GRCm39)	missense	possibly damaging	0.80
R9130:Cyp2e1	UTSW	7	140,353,022 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16