Incidental Mutation 'IGL01382:Ephx4'
ID78914
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: 0.147) question?
Stock #IGL01382
Quality Score
Status
Chromosome5
Chromosomal Location107402736-107430035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107429719 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 303 (E303G)
Ref Sequence ENSEMBL: ENSMUSP00000043764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000166599]
Predicted Effect probably damaging
Transcript: ENSMUST00000049146
AA Change: E303G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: E303G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G T 5: 142,472,251 R393L probably benign Het
Arhgap21 G T 2: 20,855,700 P1128T probably damaging Het
Atp12a T G 14: 56,379,955 C567W probably damaging Het
Bcat2 C A 7: 45,588,260 R312S probably damaging Het
Cacna1g T A 11: 94,465,858 T151S probably damaging Het
Chid1 G A 7: 141,530,253 T53M probably damaging Het
Dis3l2 A G 1: 86,857,203 D272G probably benign Het
Fam189b T C 3: 89,188,426 S596P probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm9843 A T 16: 76,403,572 noncoding transcript Het
Gnb1l T C 16: 18,544,200 F11S probably damaging Het
Ipmk C T 10: 71,376,766 T186M probably damaging Het
Jph1 T C 1: 17,016,156 T381A probably damaging Het
Kbtbd8 T A 6: 95,122,230 I163K probably damaging Het
Kif18a T A 2: 109,296,766 Y348* probably null Het
Lrrc37a T A 11: 103,498,755 D1948V probably damaging Het
Mc4r A G 18: 66,859,793 I83T probably damaging Het
Myh8 A T 11: 67,301,973 E1530V probably damaging Het
Naip6 C T 13: 100,299,856 E720K possibly damaging Het
Ncor2 T A 5: 125,055,773 Q50L probably damaging Het
Olfr1411 A G 1: 92,597,200 Y227C possibly damaging Het
Olfr495 G A 7: 108,395,245 V42M probably benign Het
Plxnd1 A T 6: 115,960,527 M1575K probably damaging Het
Ptprg T G 14: 12,237,797 M643R probably benign Het
Reck T A 4: 43,940,662 C824S probably damaging Het
Rpgrip1 C T 14: 52,145,477 T689I possibly damaging Het
Ruvbl2 A T 7: 45,422,737 S358T probably benign Het
Sec14l3 G T 11: 4,068,104 C128F probably damaging Het
Serpinf2 C T 11: 75,438,037 probably benign Het
Sez6l C T 5: 112,425,621 V842I probably benign Het
Tm6sf2 A G 8: 70,078,368 Y257C probably damaging Het
Tmpo T C 10: 91,166,050 D99G probably damaging Het
Tulp3 A C 6: 128,325,070 N329K probably damaging Het
Vmn1r7 T A 6: 57,024,723 D184V probably damaging Het
Vmn2r24 A G 6: 123,786,979 T272A possibly damaging Het
Vmn2r93 T A 17: 18,313,316 L494* probably null Het
Wdr18 T C 10: 79,965,272 L173P probably damaging Het
Zfp663 T A 2: 165,359,015 Y33F probably damaging Het
Zmiz2 T A 11: 6,403,781 probably null Het
Other mutations in Ephx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Ephx4 APN 5 107406125 splice site probably benign
IGL01916:Ephx4 APN 5 107406030 critical splice acceptor site probably null
IGL03301:Ephx4 APN 5 107426864 missense probably benign
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
X0019:Ephx4 UTSW 5 107419860 missense possibly damaging 0.88
Posted On2013-11-05