Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02725:Cyp2e1'

305144

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 #

IGL02725

Quality Score

Status

Chromosome

Chromosomal Location

140343732-140354903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 140343828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 22 (I22S)

Ref Sequence

ENSEMBL: ENSMUSP00000147845 (fasta)

Gene Model

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

AlphaFold

Q05421

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026552
AA Change: I22S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: I22S

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

Predicted Effect

probably null
Transcript: ENSMUST00000209253
AA Change: I22S

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably null
Transcript: ENSMUST00000210235
AA Change: I22S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,611,445 (GRCm39)	I414T	possibly damaging	Het
Agpat3	A	C	10: 78,113,889 (GRCm39)	D266E	probably benign	Het
Alpk3	G	T	7: 80,743,358 (GRCm39)	Q1058H	possibly damaging	Het
Atat1	A	T	17: 36,220,381 (GRCm39)	V37E	probably benign	Het
Bcl6b	A	G	11: 70,119,344 (GRCm39)	V124A	probably damaging	Het
Bmt2	T	C	6: 13,628,495 (GRCm39)	E396G	probably damaging	Het
Ccdc50	T	C	16: 27,255,347 (GRCm39)	C237R	probably benign	Het
Chd9	A	G	8: 91,778,312 (GRCm39)	I2790M	possibly damaging	Het
Chkb	A	G	15: 89,313,340 (GRCm39)	L82P	probably damaging	Het
Cit	T	C	5: 116,123,532 (GRCm39)	Y1458H	probably benign	Het
Clp1	T	A	2: 84,554,208 (GRCm39)	K320N	probably benign	Het
Cry2	T	C	2: 92,243,605 (GRCm39)		probably benign	Het
Cyp20a1	C	T	1: 60,405,865 (GRCm39)	R220W	probably benign	Het
Cyp27a1	C	T	1: 74,774,862 (GRCm39)	P268S	probably damaging	Het
Defb34	A	G	8: 19,173,774 (GRCm39)	T3A	unknown	Het
Dpy19l3	A	T	7: 35,411,343 (GRCm39)	M422K	probably benign	Het
Eif4g3	A	T	4: 137,897,782 (GRCm39)		probably benign	Het
Elmod3	A	G	6: 72,571,758 (GRCm39)	S7P	probably damaging	Het
Fam151a	T	G	4: 106,605,211 (GRCm39)	S524R	probably damaging	Het
Gcc1	A	T	6: 28,418,458 (GRCm39)	V625E	probably benign	Het
Glmn	G	A	5: 107,723,155 (GRCm39)	P112S	possibly damaging	Het
Grm5	A	C	7: 87,723,873 (GRCm39)	D721A	probably damaging	Het
Hivep3	T	C	4: 119,953,019 (GRCm39)	V445A	possibly damaging	Het
Hmcn1	T	A	1: 150,480,654 (GRCm39)	E4507D	possibly damaging	Het
Hmcn2	A	C	2: 31,295,540 (GRCm39)	E2583A	probably damaging	Het
Ifnb1	T	A	4: 88,440,867 (GRCm39)	I49F	probably benign	Het
Ints8	A	C	4: 11,239,406 (GRCm39)	C306W	probably benign	Het
Jakmip2	A	G	18: 43,695,655 (GRCm39)	S540P	probably damaging	Het
Kctd1	A	G	18: 15,102,667 (GRCm39)	V838A	possibly damaging	Het
Klk10	T	C	7: 43,431,044 (GRCm39)	L29P	probably damaging	Het
Lyst	T	A	13: 13,935,412 (GRCm39)	I3627K	probably damaging	Het
Maml3	A	G	3: 52,011,195 (GRCm39)	S124P	probably damaging	Het
Nav2	A	T	7: 49,214,843 (GRCm39)	K1632I	probably damaging	Het
Or2ab1	T	C	11: 58,488,690 (GRCm39)	V156A	probably benign	Het
Pde2a	G	T	7: 101,156,425 (GRCm39)	M616I	probably null	Het
Pdia2	T	C	17: 26,415,506 (GRCm39)	D440G	probably benign	Het
Rab11fip5	A	G	6: 85,351,471 (GRCm39)	S14P	probably damaging	Het
Rhpn2	T	C	7: 35,079,031 (GRCm39)	S383P	probably damaging	Het
Rnf220	A	G	4: 117,129,576 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,622,411 (GRCm39)	D504G	probably damaging	Het
Setbp1	A	T	18: 78,900,589 (GRCm39)	L1026*	probably null	Het
Slc1a4	A	T	11: 20,258,408 (GRCm39)	S264T	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptan1	T	C	2: 29,886,055 (GRCm39)	I739T	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stat5b	A	T	11: 100,695,840 (GRCm39)	D47E	possibly damaging	Het
Taar7b	A	T	10: 23,875,961 (GRCm39)	Y42F	probably benign	Het
Tfdp2	T	A	9: 96,169,748 (GRCm39)	I33K	possibly damaging	Het
Tm4sf5	A	G	11: 70,401,448 (GRCm39)	H149R	probably benign	Het
Tmco6	A	G	18: 36,871,760 (GRCm39)	M257V	probably benign	Het
Tuba8	G	T	6: 121,202,916 (GRCm39)	G410*	probably null	Het
Ubd	T	A	17: 37,504,853 (GRCm39)	V4D	probably benign	Het
Ugt2b34	C	T	5: 87,054,284 (GRCm39)	V166I	probably benign	Het
Vmn2r70	C	T	7: 85,214,553 (GRCm39)	V200I	possibly damaging	Het
Wdcp	A	T	12: 4,901,206 (GRCm39)	N354I	probably damaging	Het
Wipi2	A	T	5: 142,652,618 (GRCm39)	Y410F	possibly damaging	Het
Zc3hav1	G	T	6: 38,309,127 (GRCm39)	P565Q	probably damaging	Het
Zfp398	T	C	6: 47,842,737 (GRCm39)	V131A	probably benign	Het
Zkscan3	T	C	13: 21,579,063 (GRCm39)	D144G	possibly damaging	Het
Zpbp	T	A	11: 11,412,358 (GRCm39)		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
IGL02505:Cyp2e1	APN	7	140,349,069 (GRCm39)	missense	probably damaging	1.00
IGL02596:Cyp2e1	APN	7	140,350,031 (GRCm39)	missense	probably damaging	0.99
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