Incidental Mutation 'R6848:Ephx4'
ID534853
Institutional Source Beutler Lab
Gene Symbol Ephx4
Ensembl Gene ENSMUSG00000033805
Gene Nameepoxide hydrolase 4
SynonymsLOC384214, Abhd7
MMRRC Submission
Accession Numbers

Genbank: NM_001001804

Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #R6848 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location107402736-107430035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107426918 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 274 (G274D)
Ref Sequence ENSEMBL: ENSMUSP00000043764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000166599]
Predicted Effect probably damaging
Transcript: ENSMUST00000049146
AA Change: G274D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: G274D

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
Meta Mutation Damage Score 0.8681 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,884,661 N290S probably damaging Het
Acox3 G T 5: 35,592,184 G218C probably damaging Het
Acsf3 G A 8: 122,790,590 G375D probably damaging Het
Adamts9 G T 6: 92,863,354 N568K possibly damaging Het
Akr1cl G A 1: 65,024,769 T87I probably damaging Het
Cacna1s G A 1: 136,092,694 R823Q probably benign Het
Casp16-ps A T 17: 23,551,079 C175* probably null Het
Cast T C 13: 74,695,933 K694R possibly damaging Het
Cep70 G A 9: 99,262,901 R100H probably benign Het
Cep72 C T 13: 74,038,276 A259T possibly damaging Het
Chsy1 T A 7: 66,171,037 M340K probably damaging Het
Col27a1 T C 4: 63,302,371 S182P probably benign Het
Crlf2 A C 5: 109,557,031 F103V possibly damaging Het
Dync2h1 T C 9: 7,159,632 N652S probably benign Het
Fer T A 17: 63,991,606 F517I probably damaging Het
Fsip2 A T 2: 82,982,787 H3150L probably benign Het
Gata3 T A 2: 9,858,528 N392Y possibly damaging Het
Gm17660 A G 5: 104,074,737 probably benign Het
Gm5136 A T 10: 108,699,590 V168E probably damaging Het
Gria4 C T 9: 4,793,822 V79M probably damaging Het
Grk3 A C 5: 112,985,775 N60K probably damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Igf1r T G 7: 68,004,179 I155R probably damaging Het
Igsf9 T C 1: 172,495,762 L681P probably damaging Het
Intu T C 3: 40,694,255 M789T probably benign Het
Kit A T 5: 75,607,212 Q85L probably benign Het
Klhdc2 T A 12: 69,308,976 C325* probably null Het
Mcidas A G 13: 112,993,885 E5G probably benign Het
Mcm5 G T 8: 75,127,290 R724L possibly damaging Het
Nrbp2 G A 15: 76,091,483 probably benign Het
Nrg1 A G 8: 31,818,056 I655T probably damaging Het
Nsun4 T C 4: 116,052,934 D143G possibly damaging Het
Olfr214 T C 6: 116,556,775 S117P probably damaging Het
Olfr610 A G 7: 103,506,457 V163A possibly damaging Het
Olfr74 A T 2: 87,974,170 V165E possibly damaging Het
Opn3 C T 1: 175,663,049 V349M probably damaging Het
Pank2 C A 2: 131,282,626 L297I probably damaging Het
Pcdh20 T A 14: 88,467,254 E870V probably benign Het
Pdcd6 T A 13: 74,309,840 M71L possibly damaging Het
Phkb A T 8: 86,029,617 I847F probably damaging Het
Psmb1 A G 17: 15,477,247 F202S probably benign Het
Pwp2 C G 10: 78,184,293 probably null Het
Rbms3 A G 9: 117,251,741 Y21H probably damaging Het
Rhbdl1 T A 17: 25,836,184 K17* probably null Het
Rp1l1 C A 14: 64,028,218 Q418K possibly damaging Het
Slc22a4 A T 11: 54,007,789 V159E possibly damaging Het
Spata31d1a T C 13: 59,701,963 T784A possibly damaging Het
Tll1 A G 8: 64,098,510 M279T probably damaging Het
Tmem163 A T 1: 127,551,380 V134D probably damaging Het
Top2b A G 14: 16,409,958 N875S possibly damaging Het
Tpd52l1 T C 10: 31,332,857 E205G probably benign Het
Tpsb2 T A 17: 25,367,828 Y271* probably null Het
Ugt3a1 G A 15: 9,280,052 probably null Het
Vmn2r67 T C 7: 85,152,632 M154V probably benign Het
Zfp740 T G 15: 102,208,808 I89S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTCTCGTTAAAGTCAGAGTGTA -3'
(R):5'- CCACAGAGATATACATGCACATGC -3'

Sequencing Primer
(F):5'- CAGAGTACTGGCATTGGA -3'
(R):5'- GATGTACATACATGCACACGTG -3'
Posted On2018-09-12