Incidental Mutation 'IGL03301:Ephx4'
ID416232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ephx4
Ensembl Gene ENSMUSG00000033805
Gene Nameepoxide hydrolase 4
SynonymsLOC384214, Abhd7
Accession Numbers

Genbank: NM_001001804

Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL03301
Quality Score
Status
Chromosome5
Chromosomal Location107402736-107430035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107426864 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 256 (T256K)
Ref Sequence ENSEMBL: ENSMUSP00000043764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000166599]
Predicted Effect probably benign
Transcript: ENSMUST00000049146
AA Change: T256K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: T256K

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Hydrolase_4 88 203 2.4e-11 PFAM
Pfam:Abhydrolase_1 92 341 6.6e-27 PFAM
Pfam:Abhydrolase_5 93 335 5.7e-15 PFAM
Pfam:Abhydrolase_6 94 346 2.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166599
SMART Domains Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794

DomainStartEndE-ValueType
transmembrane domain 63 85 N/A INTRINSIC
low complexity region 106 122 N/A INTRINSIC
PlsC 136 247 5.65e-14 SMART
Blast:PlsC 280 322 3e-10 BLAST
EFh 391 419 9.48e-3 SMART
EFh 428 456 6.6e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171723
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Ctdp1 G A 18: 80,449,634 Q549* probably null Het
Cyp2ab1 T A 16: 20,313,799 I250F possibly damaging Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Igkv19-93 A T 6: 68,736,481 W55R probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Speer3 T A 5: 13,795,433 L160H probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zfp711 T C X: 112,633,401 Y710H probably damaging Het
Zmiz2 C T 11: 6,401,170 T566M probably damaging Het
Other mutations in Ephx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Ephx4 APN 5 107406125 splice site probably benign
IGL01382:Ephx4 APN 5 107429719 missense probably damaging 1.00
IGL01916:Ephx4 APN 5 107406030 critical splice acceptor site probably null
G5030:Ephx4 UTSW 5 107429827 missense probably damaging 0.99
R0055:Ephx4 UTSW 5 107413078 missense probably damaging 1.00
R0055:Ephx4 UTSW 5 107413078 missense probably damaging 1.00
R0408:Ephx4 UTSW 5 107413521 missense probably damaging 1.00
R0413:Ephx4 UTSW 5 107403735 missense probably benign 0.00
R0471:Ephx4 UTSW 5 107413513 missense possibly damaging 0.51
R1570:Ephx4 UTSW 5 107419851 missense probably damaging 1.00
R3700:Ephx4 UTSW 5 107402807 missense probably benign 0.00
R4366:Ephx4 UTSW 5 107403813 unclassified probably benign
R5895:Ephx4 UTSW 5 107429652 splice site probably null
R5933:Ephx4 UTSW 5 107403765 unclassified probably null
R6326:Ephx4 UTSW 5 107406111 missense probably damaging 1.00
R6505:Ephx4 UTSW 5 107403656 nonsense probably null
R6606:Ephx4 UTSW 5 107413065 missense probably damaging 1.00
R6848:Ephx4 UTSW 5 107426918 missense probably damaging 1.00
R6901:Ephx4 UTSW 5 107413561 missense probably benign 0.29
R7017:Ephx4 UTSW 5 107406114 missense probably damaging 0.98
R7484:Ephx4 UTSW 5 107429746 missense probably damaging 1.00
R7999:Ephx4 UTSW 5 107419833 missense probably damaging 1.00
X0019:Ephx4 UTSW 5 107419860 missense possibly damaging 0.88
Posted On2016-08-02