Incidental Mutation 'IGL01577:Ephx1'
ID91282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephx1
Ensembl Gene ENSMUSG00000038776
Gene Nameepoxide hydrolase 1, microsomal
SynonymsEph-1, mEH, Eph1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL01577
Quality Score
Status
Chromosome1
Chromosomal Location180976210-181020904 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to G at 181001980 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000047551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036928] [ENSMUST00000111068] [ENSMUST00000147585]
Predicted Effect probably null
Transcript: ENSMUST00000036928
AA Change: M1T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: M1T

DomainStartEndE-ValueType
Pfam:EHN 50 160 2.1e-36 PFAM
Pfam:Abhydrolase_1 142 404 2.1e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111068
AA Change: M1T

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: M1T

DomainStartEndE-ValueType
Pfam:EHN 49 161 4.2e-38 PFAM
Pfam:Abhydrolase_6 144 430 3.7e-10 PFAM
Pfam:Abhydrolase_1 178 254 1.6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000147585
AA Change: M1T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122671
Gene: ENSMUSG00000038776
AA Change: M1T

DomainStartEndE-ValueType
Pfam:EHN 49 130 2.6e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly resistant to DMBA-induced skin carcinogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,987,275 T279A probably benign Het
Adamts9 T G 6: 92,858,147 probably benign Het
Apba3 G A 10: 81,272,219 G403D probably damaging Het
Atp13a4 C T 16: 29,441,284 V235I possibly damaging Het
Brca2 T A 5: 150,541,620 C1616* probably null Het
Ccdc7a T A 8: 128,988,763 E280V probably damaging Het
Cdc42bpb A G 12: 111,302,043 I1241T possibly damaging Het
Cplx4 G T 18: 65,969,944 A35E probably damaging Het
Cyp2j8 T G 4: 96,479,071 D270A probably damaging Het
Cyp7a1 T C 4: 6,273,618 D96G probably damaging Het
Ddx11 G A 17: 66,139,403 R429H possibly damaging Het
Depdc5 C A 5: 32,955,897 T419N possibly damaging Het
Diaph3 A C 14: 86,906,031 I737R probably damaging Het
Elf2 C T 3: 51,256,352 probably benign Het
Epha6 T A 16: 59,956,926 I673L possibly damaging Het
Fndc3a A T 14: 72,589,858 M84K probably damaging Het
Gad2 T C 2: 22,681,280 probably benign Het
Gba2 G A 4: 43,573,753 Q180* probably null Het
Gga2 A G 7: 121,989,783 Y574H probably damaging Het
Gm7168 A T 17: 13,949,387 R339W probably damaging Het
Hdac10 T C 15: 89,126,213 E302G possibly damaging Het
Ighv1-72 A G 12: 115,758,273 V21A possibly damaging Het
Kif15 A G 9: 122,996,334 E774G probably benign Het
Lig3 A G 11: 82,783,477 N43S probably benign Het
Nmnat1 T A 4: 149,469,678 D135V possibly damaging Het
Olfr1496 A G 19: 13,780,798 Y62C probably damaging Het
Olfr666 A G 7: 104,893,523 F35S probably benign Het
Pak6 A C 2: 118,693,648 K428T probably benign Het
Pou2f3 G A 9: 43,146,881 Q56* probably null Het
Prep T C 10: 45,072,048 probably benign Het
Psd4 C T 2: 24,403,222 P700S probably damaging Het
Rad18 A T 6: 112,665,341 probably benign Het
Rbbp5 A G 1: 132,492,655 K209E possibly damaging Het
Smurf1 G A 5: 144,893,188 T335I probably damaging Het
Tbcd G A 11: 121,497,012 R72Q probably damaging Het
Tsga10 T C 1: 37,835,457 T116A possibly damaging Het
Unc80 A G 1: 66,529,968 probably null Het
Vmn1r87 C A 7: 13,131,848 V171F probably benign Het
Ythdc2 A T 18: 44,858,282 M786L probably benign Het
Zmym6 C A 4: 127,105,430 T469K probably damaging Het
Other mutations in Ephx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Ephx1 APN 1 180999821 missense possibly damaging 0.82
IGL00864:Ephx1 APN 1 180990451 missense probably damaging 1.00
IGL00972:Ephx1 APN 1 180999800 missense probably benign 0.02
IGL02718:Ephx1 APN 1 180999786 missense probably damaging 1.00
IGL03330:Ephx1 APN 1 180999806 missense possibly damaging 0.53
R1190:Ephx1 UTSW 1 180993929 missense probably benign 0.24
R1751:Ephx1 UTSW 1 180994677 missense probably damaging 1.00
R1767:Ephx1 UTSW 1 180994677 missense probably damaging 1.00
R2437:Ephx1 UTSW 1 180996096 missense probably damaging 1.00
R2484:Ephx1 UTSW 1 180989972 missense probably damaging 1.00
R3623:Ephx1 UTSW 1 180989933 missense probably benign 0.35
R3696:Ephx1 UTSW 1 180989951 missense probably benign 0.03
R4674:Ephx1 UTSW 1 180994691 missense probably damaging 1.00
R4675:Ephx1 UTSW 1 180994691 missense probably damaging 1.00
R4769:Ephx1 UTSW 1 180995978 missense possibly damaging 0.62
R4883:Ephx1 UTSW 1 181001923 missense possibly damaging 0.76
R6827:Ephx1 UTSW 1 180989888 missense probably damaging 1.00
R6974:Ephx1 UTSW 1 180999722 critical splice donor site probably null
R7147:Ephx1 UTSW 1 181001819 missense probably damaging 0.96
R7847:Ephx1 UTSW 1 181001861 missense probably benign 0.00
Z1177:Ephx1 UTSW 1 180999769 missense possibly damaging 0.94
Posted On2013-12-09