Incidental Mutation 'R1190:Ephx1'
ID 100717
Institutional Source Beutler Lab
Gene Symbol Ephx1
Ensembl Gene ENSMUSG00000038776
Gene Name epoxide hydrolase 1, microsomal
Synonyms Eph1, Eph-1, mEH
MMRRC Submission 039262-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R1190 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 180817121-180845134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180821494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 280 (M280K)
Ref Sequence ENSEMBL: ENSMUSP00000106697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036928] [ENSMUST00000111068] [ENSMUST00000147585]
AlphaFold Q9D379
Predicted Effect probably benign
Transcript: ENSMUST00000036928
AA Change: M294K

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: M294K

DomainStartEndE-ValueType
Pfam:EHN 50 160 2.1e-36 PFAM
Pfam:Abhydrolase_1 142 404 2.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111068
AA Change: M280K

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: M280K

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
SMART Domains Protein: ENSMUSP00000122671
Gene: ENSMUSG00000038776

DomainStartEndE-ValueType
Pfam:EHN 49 130 2.6e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000154133
AA Change: M170K
SMART Domains Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776
AA Change: M170K

DomainStartEndE-ValueType
Pfam:EHN 1 37 1.2e-8 PFAM
Pfam:Abhydrolase_1 19 247 2.3e-26 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl T C 14: 33,791,207 (GRCm39) F367L probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Dnah17 G A 11: 117,933,001 (GRCm39) R3586W probably damaging Het
Dpysl2 A G 14: 67,061,850 (GRCm39) V252A probably benign Het
Dus2 T C 8: 106,771,497 (GRCm39) S208P possibly damaging Het
Elk3 T C 10: 93,101,058 (GRCm39) N231S probably benign Het
Fstl4 T C 11: 52,959,373 (GRCm39) M138T probably benign Het
Iqsec1 A T 6: 90,666,659 (GRCm39) Y593N probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lep G T 6: 29,071,173 (GRCm39) E166* probably null Het
Limch1 A G 5: 67,126,540 (GRCm39) D56G probably damaging Het
Or4d10c G T 19: 12,066,051 (GRCm39) T35K possibly damaging Het
Pkn2 A T 3: 142,517,286 (GRCm39) probably null Het
Plxna4 A G 6: 32,228,071 (GRCm39) Y512H probably damaging Het
Tekt1 A T 11: 72,246,039 (GRCm39) I161N probably damaging Het
Tex14 T G 11: 87,385,934 (GRCm39) probably null Het
Trpc3 T C 3: 36,725,497 (GRCm39) N160D probably benign Het
Zfp369 T C 13: 65,440,107 (GRCm39) S264P probably damaging Het
Zfp747 G A 7: 126,973,726 (GRCm39) A148V probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACAGTGTGATGCCTTGGTTCAGTTC -3'
(R):5'- ACAGGTTCAACCCAGTGGATGC -3'

Sequencing Primer
(F):5'- GGTTCAGTTCTCAGTAGAGAAAAC -3'
(R):5'- tcctctcctctcctctccc -3'
Posted On 2014-01-15