Incidental Mutation 'G5030:Ephx4'
ID500
Institutional Source Beutler Lab
Gene Symbol Ephx4
Ensembl Gene ENSMUSG00000033805
Gene Nameepoxide hydrolase 4
SynonymsLOC384214, Abhd7
Accession Numbers

Genbank: NM_001001804

Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosome5
Chromosomal Location107402736-107430035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107429827 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 339 (D339V)
Ref Sequence ENSEMBL: ENSMUSP00000043764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000166599]
Predicted Effect probably damaging
Transcript: ENSMUST00000049146
AA Change: D339V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: D339V

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
Meta Mutation Damage Score 0.5408 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
Validation Efficiency 87% (206/237)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Cryzl2 C T 1: 157,465,010 Q48* probably null Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Fv1 T A 4: 147,869,161 N61K possibly damaging Het
Gm5548 T C 3: 113,054,196 noncoding transcript Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Olfr790 A G 10: 129,501,537 T218A probably benign Homo
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Saal1 G A 7: 46,692,783 T412I probably damaging Homo
Slc46a2 A T 4: 59,913,867 I352N probably damaging Het
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Tubgcp4 C T 2: 121,184,334 R242C probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly 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
IGL03301:Ephx4 APN 5 107426864 missense probably benign
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
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to T transversion at position 1054 of the Ephx4 transcript in exon 7 of 7 total exons. Multiple transcripts of the Ephx4 gene are displayed on Ensembl and Vega. The mutated nucleotide causes an aspartic acid to valine substitution at amino acid 339 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Ephx4 gene encodes a 359 amino acid single-pass type II membrane protein that belongs to the AB hydrolase superfamily. Residues important for catalytic activity are Asp 167, Tyr 279 and His 334 (Uniprot Q6IE26).

The D339V change is predicted to be possibly damaging by the PolyPhen program (see report).
Posted On2010-10-26