Incidental Mutation 'R1751:Ephx1'
ID 193482
Institutional Source Beutler Lab
Gene Symbol Ephx1
Ensembl Gene ENSMUSG00000038776
Gene Name epoxide hydrolase 1, microsomal
Synonyms Eph1, Eph-1, mEH
MMRRC Submission 039783-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R1751 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180817121-180845134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180822242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 101 (G101S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036928] [ENSMUST00000111068] [ENSMUST00000147585]
AlphaFold Q9D379
Predicted Effect probably damaging
Transcript: ENSMUST00000036928
AA Change: G225S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: G225S

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: G225S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: G225S

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 probably damaging
Transcript: ENSMUST00000154133
AA Change: G101S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776
AA Change: G101S

DomainStartEndE-ValueType
Pfam:EHN 1 37 1.2e-8 PFAM
Pfam:Abhydrolase_1 19 247 2.3e-26 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 99% (85/86)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,972,948 (GRCm39) I685F probably benign Het
Alcam A T 16: 52,091,077 (GRCm39) N480K probably damaging Het
Arhgef2 A G 3: 88,551,260 (GRCm39) Q778R probably damaging Het
Ascc3 T A 10: 50,594,472 (GRCm39) I1189N probably damaging Het
AU040320 G A 4: 126,734,517 (GRCm39) G713D probably damaging Het
Bank1 G T 3: 135,940,375 (GRCm39) R203S probably benign Het
Bank1 A G 3: 135,960,698 (GRCm39) V53A probably benign Het
Cacna1g T C 11: 94,350,628 (GRCm39) S406G probably benign Het
Ccdc198 G A 14: 49,473,341 (GRCm39) T128I probably benign Het
Ccdc40 T A 11: 119,121,522 (GRCm39) probably null Het
Cdc5l A T 17: 45,718,731 (GRCm39) D628E probably benign Het
Chd3 G A 11: 69,244,727 (GRCm39) probably benign Het
Clstn3 A T 6: 124,408,958 (GRCm39) W860R probably damaging Het
Cntn4 G A 6: 106,595,371 (GRCm39) probably null Het
Coq10b A G 1: 55,100,513 (GRCm39) R66G probably damaging Het
Cpn2 A T 16: 30,078,485 (GRCm39) Y405* probably null Het
Cyp2b9 T C 7: 25,886,100 (GRCm39) V89A probably benign Het
Depdc1a T C 3: 159,228,924 (GRCm39) C559R probably damaging Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Flg A T 3: 93,187,220 (GRCm39) Y224F possibly damaging Het
Fzd8 C T 18: 9,213,643 (GRCm39) R242C probably damaging Het
Gart A C 16: 91,439,837 (GRCm39) probably benign Het
Gm11116 T C 5: 88,259,311 (GRCm39) probably benign Het
Gm5519 T C 19: 33,802,391 (GRCm39) Y145H possibly damaging Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gnas T A 2: 174,139,687 (GRCm39) probably benign Het
Greb1 A G 12: 16,773,439 (GRCm39) probably benign Het
Grin3a A T 4: 49,844,423 (GRCm39) V220E probably damaging Het
Gstt2 T C 10: 75,670,098 (GRCm39) D8G probably damaging Het
Gucy2c A T 6: 136,725,773 (GRCm39) probably benign Het
Igf2r A C 17: 12,916,328 (GRCm39) S1677A possibly damaging Het
Jmjd1c T C 10: 67,061,469 (GRCm39) L1274P probably benign Het
Krt13 A C 11: 100,011,926 (GRCm39) H132Q possibly damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Lrp6 A G 6: 134,441,531 (GRCm39) L1145S probably damaging Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Ly96 A G 1: 16,776,399 (GRCm39) T112A probably benign Het
Meltf G T 16: 31,702,747 (GRCm39) C158F probably damaging Het
Mycbp2 A T 14: 103,485,841 (GRCm39) H1040Q probably damaging Het
Nol8 A T 13: 49,820,884 (GRCm39) T914S probably benign Het
Npas4 G A 19: 5,038,211 (GRCm39) P199L probably benign Het
Or12d17 A T 17: 37,777,792 (GRCm39) M232L probably benign Het
Pcdh10 A T 3: 45,338,612 (GRCm39) H923L probably damaging Het
Pcp4 A C 16: 96,326,689 (GRCm39) Q290P probably damaging Het
Pdlim1 C T 19: 40,240,348 (GRCm39) probably benign Het
Pias3 T C 3: 96,608,719 (GRCm39) S228P probably damaging Het
Pign A G 1: 105,580,917 (GRCm39) V154A probably benign Het
Pik3c2a A C 7: 115,945,471 (GRCm39) V1445G probably damaging Het
Plod3 T A 5: 137,019,030 (GRCm39) V305E possibly damaging Het
Plxnc1 A G 10: 94,685,677 (GRCm39) probably benign Het
Prkra G T 2: 76,477,584 (GRCm39) H40Q possibly damaging Het
Retnlg A T 16: 48,693,991 (GRCm39) D49V possibly damaging Het
Rfx2 A G 17: 57,091,754 (GRCm39) V313A probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Rtp1 A G 16: 23,250,124 (GRCm39) E163G probably damaging Het
Sbpl A G 17: 24,173,777 (GRCm39) probably null Het
Scg3 G A 9: 75,576,622 (GRCm39) T251M probably damaging Het
Setbp1 T C 18: 78,900,613 (GRCm39) D1018G probably damaging Het
Slc38a11 T A 2: 65,180,452 (GRCm39) I182F probably benign Het
Slc6a20a T A 9: 123,466,165 (GRCm39) I522F probably damaging Het
Smarca2 T C 19: 26,617,780 (GRCm39) probably benign Het
Ssbp3 G T 4: 106,904,612 (GRCm39) D336Y probably damaging Het
Stox1 T C 10: 62,495,445 (GRCm39) T943A probably damaging Het
Sun2 A G 15: 79,609,758 (GRCm39) S694P probably benign Het
Tdp1 G A 12: 99,857,602 (GRCm39) probably null Het
Tfap2a A T 13: 40,878,613 (GRCm39) I204N probably damaging Het
Tfip11 T A 5: 112,482,298 (GRCm39) W519R probably damaging Het
Tie1 T C 4: 118,333,373 (GRCm39) E831G possibly damaging Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tmem39b A C 4: 129,586,976 (GRCm39) I78M possibly damaging Het
Trank1 T C 9: 111,220,547 (GRCm39) V2428A probably benign Het
Trim35 A G 14: 66,541,617 (GRCm39) E247G probably damaging Het
Trpc7 T A 13: 56,923,956 (GRCm39) D743V probably damaging Het
Trrap T C 5: 144,751,385 (GRCm39) probably null Het
Tsc1 A G 2: 28,566,038 (GRCm39) I485V probably damaging Het
Tsc22d1 T C 14: 76,655,542 (GRCm39) S674P probably damaging Het
Tsn A T 1: 118,228,618 (GRCm39) D201E probably damaging Het
Tsr3 T C 17: 25,461,613 (GRCm39) I317T possibly damaging Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Vmn1r192 A G 13: 22,371,441 (GRCm39) S260P probably benign Het
Vmn2r108 A T 17: 20,682,786 (GRCm39) V806E probably damaging Het
Wnt10b A T 15: 98,670,556 (GRCm39) L228Q probably damaging Het
Zfp108 C A 7: 23,961,321 (GRCm39) H637Q 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
R1190:Ephx1 UTSW 1 180,821,494 (GRCm39) missense probably benign 0.24
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'- TCAGAGACTGCTGAAGAGGGCTTG -3'
(R):5'- AGACGCTGCTATTGTTTAGCCCAAC -3'

Sequencing Primer
(F):5'- GCTTGGGGTGAACAGTCC -3'
(R):5'- TTTAGCCCAACAGTGGAGTC -3'
Posted On 2014-05-23