Incidental Mutation 'R5365:Ephx3'
ID 423103
Institutional Source Beutler Lab
Gene Symbol Ephx3
Ensembl Gene ENSMUSG00000037577
Gene Name epoxide hydrolase 3
Synonyms 2310063B19Rik, Abhd9
MMRRC Submission 042943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5365 (G1)
Quality Score 219
Status Not validated
Chromosome 17
Chromosomal Location 32402742-32408444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32408223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 67 (L67P)
Ref Sequence ENSEMBL: ENSMUSP00000124600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087721] [ENSMUST00000162117]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000087721
AA Change: L67P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085013
Gene: ENSMUSG00000037577
AA Change: L67P

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
low complexity region 106 117 N/A INTRINSIC
Pfam:Abhydrolase_1 162 276 1.4e-16 PFAM
Pfam:Abhydrolase_5 163 402 9.1e-12 PFAM
Pfam:Abhydrolase_6 164 413 7.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162117
AA Change: L67P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124600
Gene: ENSMUSG00000037577
AA Change: L67P

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
low complexity region 106 117 N/A INTRINSIC
Pfam:Abhydrolase_5 156 395 6e-12 PFAM
Pfam:Abhydrolase_6 157 406 4.2e-36 PFAM
Pfam:Abhydrolase_1 181 410 7.6e-13 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,578,629 (GRCm39) E4877G probably damaging Het
Acss3 C T 10: 106,840,589 (GRCm39) A391T probably damaging Het
Bcan T C 3: 87,896,542 (GRCm39) Y718C probably damaging Het
Bnc2 T C 4: 84,329,666 (GRCm39) probably benign Het
Bpnt2 G A 4: 4,776,385 (GRCm39) T190I probably damaging Het
Card6 A G 15: 5,134,888 (GRCm39) V105A possibly damaging Het
Ceacam5 A G 7: 17,493,473 (GRCm39) Y832C probably damaging Het
Ces2e T C 8: 105,653,846 (GRCm39) probably null Het
Cpt1b A T 15: 89,304,310 (GRCm39) I480N possibly damaging Het
Csmd3 T C 15: 47,868,145 (GRCm39) T792A possibly damaging Het
Ctsq T A 13: 61,185,632 (GRCm39) I170F possibly damaging Het
Cyfip2 A G 11: 46,138,457 (GRCm39) S772P probably damaging Het
Cyp3a16 A C 5: 145,389,597 (GRCm39) M256R probably damaging Het
Dgkd C T 1: 87,863,138 (GRCm39) R62C probably damaging Het
Gpc2 A G 5: 138,273,885 (GRCm39) Y438H probably damaging Het
Hnrnpul2 T A 19: 8,798,080 (GRCm39) H145Q probably benign Het
Igkv9-120 T C 6: 68,027,433 (GRCm39) S116P probably benign Het
Itgal A G 7: 126,904,522 (GRCm39) I332V probably damaging Het
Lrit1 A G 14: 36,784,099 (GRCm39) T476A probably benign Het
Lrp1b T C 2: 40,537,137 (GRCm39) H50R possibly damaging Het
Marchf7 T C 2: 60,064,258 (GRCm39) V178A possibly damaging Het
Mbtps2 G A X: 156,351,295 (GRCm39) T157M possibly damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mill2 T C 7: 18,592,339 (GRCm39) V320A probably benign Het
Mtor G A 4: 148,634,587 (GRCm39) V2403M probably damaging Het
Nectin3 T A 16: 46,284,469 (GRCm39) K71* probably null Het
Or2g25 T A 17: 37,970,586 (GRCm39) I213F probably damaging Het
Otof T C 5: 30,539,144 (GRCm39) Y1090C probably damaging Het
Pigf A T 17: 87,331,136 (GRCm39) V62E possibly damaging Het
Pla1a A G 16: 38,237,569 (GRCm39) L43P probably benign Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Sbno1 TCCC TCC 5: 124,519,929 (GRCm39) probably null Het
Tgm4 A C 9: 122,895,866 (GRCm39) K223N probably damaging Het
Ttn G T 2: 76,744,990 (GRCm39) A5353E probably damaging Het
Ywhaq T C 12: 21,446,389 (GRCm39) E159G possibly damaging Het
Zdhhc12 A G 2: 29,983,521 (GRCm39) V27A probably damaging Het
Other mutations in Ephx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01464:Ephx3 APN 17 32,407,219 (GRCm39) missense probably damaging 1.00
R1142:Ephx3 UTSW 17 32,404,248 (GRCm39) missense probably benign 0.00
R2175:Ephx3 UTSW 17 32,407,433 (GRCm39) missense possibly damaging 0.74
R6971:Ephx3 UTSW 17 32,407,177 (GRCm39) missense possibly damaging 0.92
R7114:Ephx3 UTSW 17 32,404,006 (GRCm39) missense possibly damaging 0.75
R7236:Ephx3 UTSW 17 32,404,328 (GRCm39) critical splice acceptor site probably null
R7532:Ephx3 UTSW 17 32,407,763 (GRCm39) missense possibly damaging 0.77
R8474:Ephx3 UTSW 17 32,407,219 (GRCm39) missense probably damaging 1.00
R9310:Ephx3 UTSW 17 32,408,290 (GRCm39) missense probably benign 0.24
R9311:Ephx3 UTSW 17 32,408,290 (GRCm39) missense probably benign 0.24
R9313:Ephx3 UTSW 17 32,408,290 (GRCm39) missense probably benign 0.24
X0062:Ephx3 UTSW 17 32,408,361 (GRCm39) missense probably benign 0.03
Z1176:Ephx3 UTSW 17 32,404,211 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAAAGCAATGCTCGCCCAG -3'
(R):5'- GAGAGGTGGCAGTATCTGTC -3'

Sequencing Primer
(F):5'- TGGGGTCTCTCAGGCACTC -3'
(R):5'- TGGCAGTATCTGTCCGAGC -3'
Posted On 2016-08-04