Incidental Mutation 'IGL03330:Ephx1'
ID 416842
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 # IGL03330
Quality Score
Status
Chromosome 1
Chromosomal Location 180817121-180845134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180827371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000106697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036928] [ENSMUST00000111068] [ENSMUST00000147585]
AlphaFold Q9D379
Predicted Effect possibly damaging
Transcript: ENSMUST00000036928
AA Change: V94A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: V94A

DomainStartEndE-ValueType
Pfam:EHN 50 160 2.1e-36 PFAM
Pfam:Abhydrolase_1 142 404 2.1e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111068
AA Change: V94A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: V94A

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: ENSMUST00000147585
AA Change: V94A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122671
Gene: ENSMUSG00000038776
AA Change: V94A

DomainStartEndE-ValueType
Pfam:EHN 49 130 2.6e-26 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,050,254 (GRCm39) I837V probably damaging Het
Actr2 A G 11: 20,041,330 (GRCm39) V138A probably benign Het
Adam30 G A 3: 98,069,772 (GRCm39) C535Y probably damaging Het
Bcor G A X: 11,925,110 (GRCm39) T162I possibly damaging Het
Catsperd C A 17: 56,939,316 (GRCm39) N48K possibly damaging Het
Ccr2 T C 9: 123,905,996 (GRCm39) I92T probably damaging Het
Cp A G 3: 20,020,599 (GRCm39) I197M probably damaging Het
Cpne3 T A 4: 19,553,774 (GRCm39) T86S possibly damaging Het
Dnm3 A T 1: 162,148,560 (GRCm39) D270E probably benign Het
Enpp1 C T 10: 24,540,804 (GRCm39) probably benign Het
Fbxw25 T C 9: 109,474,307 (GRCm39) M448V probably benign Het
Fhl2 A G 1: 43,192,351 (GRCm39) L14P probably damaging Het
Gabra4 T C 5: 71,798,407 (GRCm39) R191G probably null Het
Gtpbp6 T C 5: 110,254,929 (GRCm39) T151A possibly damaging Het
Lars1 T A 18: 42,353,009 (GRCm39) M803L probably benign Het
Myc A G 15: 61,859,998 (GRCm39) T224A probably benign Het
Noxa1 T A 2: 24,980,526 (GRCm39) D161V possibly damaging Het
Or2w3b A C 11: 58,623,745 (GRCm39) L82R probably damaging Het
Or4l1 C T 14: 50,166,678 (GRCm39) G108R probably damaging Het
Or8g52 C T 9: 39,630,784 (GRCm39) T87I probably benign Het
Peg3 G T 7: 6,713,412 (GRCm39) N603K probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Sgcb T A 5: 73,797,212 (GRCm39) S183C probably damaging Het
Slc6a19 T A 13: 73,837,679 (GRCm39) I239F possibly damaging Het
Socs7 T C 11: 97,269,378 (GRCm39) Y399H probably damaging Het
Stc2 T C 11: 31,319,804 (GRCm39) D20G probably benign Het
Tmem184b A T 15: 79,254,179 (GRCm39) probably null Het
Tpo A G 12: 30,153,500 (GRCm39) S285P probably damaging Het
Vmn2r27 G T 6: 124,207,139 (GRCm39) Y167* probably null Het
Other mutations in Ephx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Ephx1 APN 1 180,827,386 (GRCm39) missense possibly damaging 0.82
IGL00864:Ephx1 APN 1 180,818,016 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02