Incidental Mutation 'IGL00864:Ephx1'
ID 12603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephx1
Ensembl Gene ENSMUSG00000038776
Gene Name epoxide hydrolase 1, microsomal
Synonyms Eph1, Eph-1, mEH
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL00864
Quality Score
Status
Chromosome 1
Chromosomal Location 180817121-180845134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180818016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 356 (S356P)
Ref Sequence ENSEMBL: ENSMUSP00000106697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036928] [ENSMUST00000111068]
AlphaFold Q9D379
Predicted Effect probably damaging
Transcript: ENSMUST00000036928
AA Change: S370P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: S370P

DomainStartEndE-ValueType
Pfam:EHN 50 160 2.1e-36 PFAM
Pfam:Abhydrolase_1 142 404 2.1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111068
AA Change: S356P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: S356P

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 benign
Transcript: ENSMUST00000154133
SMART Domains Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776

DomainStartEndE-ValueType
Pfam:EHN 1 37 1.2e-8 PFAM
Pfam:Abhydrolase_1 19 247 2.3e-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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Ap2b1 A C 11: 83,223,984 (GRCm39) D195A probably damaging Het
Asxl3 T A 18: 22,655,503 (GRCm39) I1171K probably benign Het
Atm T C 9: 53,445,233 (GRCm39) S2G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
H1f8 A G 6: 115,925,587 (GRCm39) K128R probably damaging Het
Il12rb2 A G 6: 67,313,738 (GRCm39) I6T probably benign Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Kcnq5 T A 1: 21,575,987 (GRCm39) Q239L probably damaging Het
Lmbrd2 T C 15: 9,175,297 (GRCm39) S403P probably damaging Het
Ola1 A T 2: 72,987,241 (GRCm39) D130E probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Opcml A C 9: 28,812,887 (GRCm39) E193A probably damaging Het
Rab44 T C 17: 29,358,711 (GRCm39) S300P probably benign Het
Sergef C A 7: 46,165,087 (GRCm39) probably null Het
Slc6a2 T C 8: 93,722,622 (GRCm39) F540L probably benign Het
Spag6l A G 16: 16,598,597 (GRCm39) V298A probably benign Het
Svep1 G T 4: 58,068,533 (GRCm39) Y3084* probably null Het
Tbc1d4 T A 14: 101,682,002 (GRCm39) D1235V probably benign Het
Tlr9 T C 9: 106,102,206 (GRCm39) L499P probably damaging Het
Ttn G A 2: 76,544,178 (GRCm39) S24609F probably damaging Het
Other mutations in Ephx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Ephx1 APN 1 180,827,386 (GRCm39) missense possibly damaging 0.82
IGL00972:Ephx1 APN 1 180,827,365 (GRCm39) missense probably benign 0.02
IGL01577:Ephx1 APN 1 180,829,545 (GRCm39) start codon destroyed probably null 0.96
IGL02718:Ephx1 APN 1 180,827,351 (GRCm39) missense probably damaging 1.00
IGL03330:Ephx1 APN 1 180,827,371 (GRCm39) missense possibly damaging 0.53
R1190:Ephx1 UTSW 1 180,821,494 (GRCm39) missense probably benign 0.24
R1751:Ephx1 UTSW 1 180,822,242 (GRCm39) missense probably damaging 1.00
R1767:Ephx1 UTSW 1 180,822,242 (GRCm39) missense probably damaging 1.00
R2437:Ephx1 UTSW 1 180,823,661 (GRCm39) missense probably damaging 1.00
R2484:Ephx1 UTSW 1 180,817,537 (GRCm39) missense probably damaging 1.00
R3623:Ephx1 UTSW 1 180,817,498 (GRCm39) missense probably benign 0.35
R3696:Ephx1 UTSW 1 180,817,516 (GRCm39) missense probably benign 0.03
R4674:Ephx1 UTSW 1 180,822,256 (GRCm39) missense probably damaging 1.00
R4675:Ephx1 UTSW 1 180,822,256 (GRCm39) missense probably damaging 1.00
R4769:Ephx1 UTSW 1 180,823,543 (GRCm39) missense possibly damaging 0.62
R4883:Ephx1 UTSW 1 180,829,488 (GRCm39) missense possibly damaging 0.76
R6827:Ephx1 UTSW 1 180,817,453 (GRCm39) missense probably damaging 1.00
R6974:Ephx1 UTSW 1 180,827,287 (GRCm39) critical splice donor site probably null
R7147:Ephx1 UTSW 1 180,829,384 (GRCm39) missense probably damaging 0.96
R7847:Ephx1 UTSW 1 180,829,426 (GRCm39) missense probably benign 0.00
R9598:Ephx1 UTSW 1 180,827,381 (GRCm39) nonsense probably null
Z1177:Ephx1 UTSW 1 180,827,334 (GRCm39) missense possibly damaging 0.94
Posted On 2012-12-06