Incidental Mutation 'R2175:Ephx3'
ID 236845
Institutional Source Beutler Lab
Gene Symbol Ephx3
Ensembl Gene ENSMUSG00000037577
Gene Name epoxide hydrolase 3
Synonyms 2310063B19Rik, Abhd9
MMRRC Submission 040177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2175 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32402742-32408444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32407433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 204 (T204S)
Ref Sequence ENSEMBL: ENSMUSP00000124600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087721] [ENSMUST00000162117]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000087721
AA Change: T211S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085013
Gene: ENSMUSG00000037577
AA Change: T211S

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 possibly damaging
Transcript: ENSMUST00000162117
AA Change: T204S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124600
Gene: ENSMUSG00000037577
AA Change: T204S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,078,475 (GRCm39) Y583F probably benign Het
Adra2a A G 19: 54,034,793 (GRCm39) T50A probably benign Het
Alox8 T C 11: 69,078,592 (GRCm39) Y367C possibly damaging Het
Ankfn1 A G 11: 89,417,363 (GRCm39) L83P probably damaging Het
Asxl3 T C 18: 22,649,652 (GRCm39) L547P probably benign Het
Cox10 G A 11: 63,962,475 (GRCm39) A122V probably benign Het
Cttnbp2 A C 6: 18,434,828 (GRCm39) probably null Het
Eml5 A T 12: 98,842,482 (GRCm39) C205* probably null Het
Evi5l A G 8: 4,237,269 (GRCm39) H124R probably damaging Het
Ext1 G T 15: 52,932,124 (GRCm39) P726Q probably damaging Het
Fam151b T C 13: 92,614,426 (GRCm39) R21G probably damaging Het
Hdac1 G A 4: 129,428,463 (GRCm39) R36C probably damaging Het
Ift172 A G 5: 31,424,029 (GRCm39) Y715H probably damaging Het
Inpp4b T C 8: 82,583,328 (GRCm39) F144S probably damaging Het
Lepr T A 4: 101,622,576 (GRCm39) I452N probably benign Het
Mok T C 12: 110,781,634 (GRCm39) H6R probably benign Het
Myef2 A T 2: 124,940,375 (GRCm39) M392K probably damaging Het
Ncoa2 G A 1: 13,294,837 (GRCm39) P28S probably damaging Het
Nfrkb A G 9: 31,300,310 (GRCm39) T34A possibly damaging Het
Nkx1-1 G A 5: 33,588,598 (GRCm39) A230V probably benign Het
Or10ag2 T A 2: 87,248,500 (GRCm39) L34H probably damaging Het
Or5an1b T A 19: 12,299,885 (GRCm39) Y102F probably damaging Het
Ryr1 T G 7: 28,767,867 (GRCm39) K2890T probably damaging Het
Siae G T 9: 37,539,092 (GRCm39) D168Y probably damaging Het
Smarcc1 A T 9: 109,993,877 (GRCm39) T241S possibly damaging Het
Steap2 T A 5: 5,723,501 (GRCm39) I460F probably damaging Het
Strap A G 6: 137,727,590 (GRCm39) T345A probably benign Het
Tex2 A G 11: 106,394,513 (GRCm39) V1099A unknown Het
Thsd7a T C 6: 12,331,943 (GRCm39) T1290A possibly damaging Het
Unc80 G A 1: 66,716,514 (GRCm39) G2878D probably damaging Het
Vmn2r63 C T 7: 42,583,004 (GRCm39) probably null Het
Xirp2 C T 2: 67,340,258 (GRCm39) T833I probably damaging Het
Zcchc2 T C 1: 105,955,153 (GRCm39) S615P probably damaging Het
Zfp148 C G 16: 33,317,116 (GRCm39) S554* probably null 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
R5365:Ephx3 UTSW 17 32,408,223 (GRCm39) missense probably damaging 1.00
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'- TCACGAGGATGCACTTGGAG -3'
(R):5'- GGGATTCCACTATTTCCTTCCTAAG -3'

Sequencing Primer
(F):5'- AGGATGCACTTGGAGTACCCTG -3'
(R):5'- TTTCCTTCCTAAGAAGTCCAGAGCAG -3'
Posted On 2014-10-02