Incidental Mutation 'IGL01964:Cyp2e1'
ID 181502
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 # IGL01964
Quality Score
Status
Chromosome 7
Chromosomal Location 140343732-140354903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140343779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 6 (I6F)
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: I6F

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: I6F

DomainStartEndE-ValueType
transmembrane domain 2 23 N/A INTRINSIC
Pfam:p450 33 489 1.4e-147 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209253
AA Change: I6F

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000210235
AA Change: I6F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A C 8: 44,079,798 (GRCm39) I142S probably benign Het
Aknad1 T C 3: 108,685,593 (GRCm39) V579A probably benign Het
Ankrd11 A G 8: 123,616,475 (GRCm39) I2438T probably damaging Het
Cdh11 A G 8: 103,391,375 (GRCm39) V287A probably benign Het
Cdyl2 G A 8: 117,350,768 (GRCm39) S121L probably benign Het
Cyp3a16 A T 5: 145,392,372 (GRCm39) D194E probably benign Het
Eapp G T 12: 54,732,720 (GRCm39) P126Q probably damaging Het
Efr3b A T 12: 4,032,928 (GRCm39) L143Q probably damaging Het
Grin2c C T 11: 115,144,673 (GRCm39) E618K probably damaging Het
Haus3 A T 5: 34,323,405 (GRCm39) Y402N probably benign Het
Iffo1 A G 6: 125,128,364 (GRCm39) D316G probably damaging Het
Kctd19 A T 8: 106,115,157 (GRCm39) M468K probably damaging Het
Kdm4b T A 17: 56,696,256 (GRCm39) probably null Het
Naip6 T A 13: 100,435,238 (GRCm39) probably benign Het
Or5k15 A T 16: 58,709,827 (GRCm39) I252K probably damaging Het
Polr3c T C 3: 96,619,291 (GRCm39) probably benign Het
Poteg A T 8: 27,938,036 (GRCm39) E60V probably damaging Het
Rnd2 T C 11: 101,361,632 (GRCm39) probably null Het
Rufy3 A G 5: 88,762,929 (GRCm39) Q153R probably damaging Het
Shank1 T A 7: 43,975,102 (GRCm39) I399N unknown Het
Sin3a T C 9: 57,014,631 (GRCm39) probably benign Het
Sppl2b T A 10: 80,701,220 (GRCm39) probably null Het
Srgap1 G A 10: 121,640,871 (GRCm39) P665L possibly damaging Het
Srgap2 G T 1: 131,217,316 (GRCm39) Q999K probably benign Het
Tbxas1 G A 6: 39,060,748 (GRCm39) V496I probably benign Het
Vmn1r198 A G 13: 22,538,576 (GRCm39) M21V probably benign Het
Wdr90 T C 17: 26,067,383 (GRCm39) I1479V probably benign Het
Other mutations in Cyp2e1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2014-05-07