Incidental Mutation 'IGL00706:Cyp2e1'
ID9994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2e1
Ensembl Gene ENSMUSG00000025479
Gene Namecytochrome P450, family 2, subfamily e, polypeptide 1
SynonymsCyp2e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00706
Quality Score
Status
Chromosome7
Chromosomal Location140763739-140774987 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140769153 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 132 (I132T)
Ref Sequence ENSEMBL: ENSMUSP00000147845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026552] [ENSMUST00000209253] [ENSMUST00000210235]
Predicted Effect probably benign
Transcript: ENSMUST00000026552
AA Change: I132T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: I132T

DomainStartEndE-ValueType
transmembrane domain 2 23 N/A INTRINSIC
Pfam:p450 33 489 1.4e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209253
AA Change: I132T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210235
AA Change: I132T

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 9,013,730 S4126* probably null Het
Arhgap26 T A 18: 39,286,551 N521K probably damaging Het
Bard1 C T 1: 71,031,426 R633H probably benign Het
Cntn3 C T 6: 102,203,949 V762I probably benign Het
Cyp2t4 T C 7: 27,155,158 I13T probably benign Het
Dhx36 A T 3: 62,496,842 C227S probably damaging Het
Dusp27 T C 1: 166,100,552 E497G probably benign Het
Fetub A G 16: 22,935,696 T138A probably benign Het
Gab3 C T X: 75,005,359 S362N probably benign Het
Gpr158 T C 2: 21,746,773 L501P probably damaging Het
Ifit1bl2 T A 19: 34,618,882 T445S probably benign Het
Kdm5a T A 6: 120,406,636 D779E possibly damaging Het
Ms4a5 C T 19: 11,283,778 V6I probably benign Het
Rgl3 A G 9: 21,977,239 F425S probably damaging Het
Rnf6 T C 5: 146,211,905 D112G possibly damaging Het
Spink12 G A 18: 44,107,805 C86Y probably damaging Het
Wdr3 G A 3: 100,148,100 probably benign Het
Other mutations in Cyp2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01755:Cyp2e1 APN 7 140774556 critical splice acceptor site probably null
IGL01884:Cyp2e1 APN 7 140773750 missense probably benign 0.16
IGL01950:Cyp2e1 APN 7 140764961 critical splice donor site probably null
IGL01964:Cyp2e1 APN 7 140763866 missense probably damaging 1.00
IGL02430:Cyp2e1 APN 7 140770226 missense probably damaging 1.00
IGL02505:Cyp2e1 APN 7 140769156 missense probably damaging 1.00
IGL02596:Cyp2e1 APN 7 140770118 missense probably damaging 0.99
IGL02725:Cyp2e1 APN 7 140763915 missense probably null 1.00
IGL02887:Cyp2e1 APN 7 140763911 missense probably damaging 1.00
IGL03114:Cyp2e1 APN 7 140773129 missense possibly damaging 0.95
IGL03146:Cyp2e1 APN 7 140770221 missense probably benign 0.00
IGL03340:Cyp2e1 APN 7 140764854 missense probably damaging 1.00
R1396:Cyp2e1 UTSW 7 140773079 missense probably damaging 0.98
R2111:Cyp2e1 UTSW 7 140773634 missense probably damaging 1.00
R2230:Cyp2e1 UTSW 7 140764914 missense probably damaging 1.00
R2231:Cyp2e1 UTSW 7 140764914 missense probably damaging 1.00
R2383:Cyp2e1 UTSW 7 140770068 missense probably benign 0.06
R3778:Cyp2e1 UTSW 7 140763909 missense possibly damaging 0.58
R4082:Cyp2e1 UTSW 7 140771078 missense possibly damaging 0.67
R4707:Cyp2e1 UTSW 7 140763908 missense possibly damaging 0.58
R4751:Cyp2e1 UTSW 7 140774716 nonsense probably null
R4784:Cyp2e1 UTSW 7 140763908 missense possibly damaging 0.58
R4792:Cyp2e1 UTSW 7 140773675 missense probably benign
R4917:Cyp2e1 UTSW 7 140774614 missense possibly damaging 0.94
R4934:Cyp2e1 UTSW 7 140770117 missense probably damaging 1.00
R5092:Cyp2e1 UTSW 7 140774735 missense probably damaging 1.00
R5388:Cyp2e1 UTSW 7 140763993 missense probably damaging 1.00
R5423:Cyp2e1 UTSW 7 140770118 missense probably benign 0.01
R6740:Cyp2e1 UTSW 7 140763780 unclassified probably benign
R7065:Cyp2e1 UTSW 7 140763993 missense probably damaging 1.00
R7154:Cyp2e1 UTSW 7 140770137 missense probably damaging 1.00
R8054:Cyp2e1 UTSW 7 140770958 missense possibly damaging 0.80
Posted On2012-12-06