Incidental Mutation 'R6827:Ephx1'
ID 534193
Institutional Source Beutler Lab
Gene Symbol Ephx1
Ensembl Gene ENSMUSG00000038776
Gene Name epoxide hydrolase 1, microsomal
Synonyms Eph1, Eph-1, mEH
MMRRC Submission 044938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R6827 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 180817121-180845134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180817453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 406 (L406P)
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: L420P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: L420P

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: L406P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: L406P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef26 C A 3: 62,330,919 (GRCm39) probably null Het
Asb3 A G 11: 31,051,211 (GRCm39) N555S probably benign Het
Bcr T C 10: 74,966,896 (GRCm39) V501A probably damaging Het
Cchcr1 A G 17: 35,841,302 (GRCm39) T773A possibly damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dscam T A 16: 96,840,191 (GRCm39) N139Y probably damaging Het
Fbxl13 T A 5: 21,727,176 (GRCm39) I607F probably damaging Het
Gm3573 T A 14: 42,010,429 (GRCm39) T59S probably benign Het
Gm572 T C 4: 148,742,543 (GRCm39) L94P possibly damaging Het
Gypa A T 8: 81,231,417 (GRCm39) M109L probably benign Het
Hk3 C A 13: 55,159,165 (GRCm39) V409L probably damaging Het
Kcnh6 A G 11: 105,899,925 (GRCm39) T65A probably benign Het
Kdr G T 5: 76,105,205 (GRCm39) P1055Q probably damaging Het
Lef1 T C 3: 130,994,053 (GRCm39) probably null Het
Lrrc10 A G 10: 116,881,545 (GRCm39) Q73R possibly damaging Het
Moxd1 C T 10: 24,155,748 (GRCm39) T284I probably benign Het
Naf1 A T 8: 67,330,343 (GRCm39) T290S possibly damaging Het
Naip5 C A 13: 100,382,437 (GRCm39) V91L possibly damaging Het
Ncaph2 T C 15: 89,255,530 (GRCm39) V568A probably damaging Het
Ntrk2 T C 13: 59,274,382 (GRCm39) W753R probably damaging Het
Or51v15-ps1 C A 7: 103,279,032 (GRCm39) C45F possibly damaging Het
Pbld1 C A 10: 62,903,212 (GRCm39) N96K probably damaging Het
Pcdhac2 G A 18: 37,277,706 (GRCm39) V229M probably benign Het
Prrc2b G T 2: 32,090,963 (GRCm39) R445L probably benign Het
Scyl2 T C 10: 89,505,666 (GRCm39) probably null Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Slc22a5 A T 11: 53,762,442 (GRCm39) I21N possibly damaging Het
Tex51 C T 18: 32,591,713 (GRCm39) W186* probably null Het
Tmem168 A T 6: 13,582,837 (GRCm39) F297L probably damaging Het
Trpm4 T C 7: 44,968,052 (GRCm39) E293G possibly damaging Het
Trps1 T A 15: 50,685,959 (GRCm39) T69S probably benign Het
Ubxn4 T C 1: 128,204,714 (GRCm39) M468T probably benign Het
Unc5b C A 10: 60,616,011 (GRCm39) R104L probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Wnt2b A G 3: 104,854,408 (GRCm39) V350A probably benign Het
Zfp518b T C 5: 38,828,882 (GRCm39) Q1041R probably damaging Het
Zranb1 T C 7: 132,551,474 (GRCm39) F68L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGGGAACAAACTTATTCCTCTGG -3'
(R):5'- ATGGCTCCATCTGACCTAGC -3'

Sequencing Primer
(F):5'- AACTTATTCCTCTGGAAGGGCAC -3'
(R):5'- GCTCCATCTGACCTAGCCAAGTC -3'
Posted On 2018-09-12