Incidental Mutation 'R3700:Ephx4'
ID 473265
Institutional Source Beutler Lab
Gene Symbol Ephx4
Ensembl Gene ENSMUSG00000033805
Gene Name epoxide hydrolase 4
Synonyms Abhd7, LOC384214
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R3700 (G1)
Quality Score 181
Status Not validated
Chromosome 5
Chromosomal Location 107551379-107577901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107550673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 11 (F11L)
Ref Sequence ENSEMBL: ENSMUSP00000125261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000159968] [ENSMUST00000161246] [ENSMUST00000161452]
AlphaFold Q6IE26
Predicted Effect probably benign
Transcript: ENSMUST00000049146
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805

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 noncoding transcript
Transcript: ENSMUST00000082620
Predicted Effect probably benign
Transcript: ENSMUST00000159968
AA Change: F11L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125261
Gene: ENSMUSG00000033805
AA Change: F11L

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 38 142 7e-12 PFAM
Pfam:Abhydrolase_6 39 142 1.3e-27 PFAM
Pfam:Abhydrolase_1 63 142 5.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161246
SMART Domains Protein: ENSMUSP00000123962
Gene: ENSMUSG00000033805

DomainStartEndE-ValueType
Pfam:Abhydrolase_6 1 73 4.8e-17 PFAM
Pfam:Abhydrolase_1 25 73 7.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161452
SMART Domains Protein: ENSMUSP00000124661
Gene: ENSMUSG00000033805

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 1 93 2.1e-11 PFAM
Pfam:Abhydrolase_6 1 94 5e-26 PFAM
Pfam:Abhydrolase_1 25 94 5.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199508
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G A 18: 65,438,222 (GRCm39) T1524I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Drgx A T 14: 32,350,818 (GRCm39) E218V probably damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Hsp90ab1 T C 17: 45,882,440 (GRCm39) T85A possibly damaging Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lrrc71 T A 3: 87,653,185 (GRCm39) probably null Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C probably null Het
Other mutations in Ephx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Ephx4 APN 5 107,553,991 (GRCm39) splice site probably benign
IGL01382:Ephx4 APN 5 107,577,585 (GRCm39) missense probably damaging 1.00
IGL01916:Ephx4 APN 5 107,553,896 (GRCm39) critical splice acceptor site probably null
IGL03301:Ephx4 APN 5 107,574,730 (GRCm39) missense probably benign
G5030:Ephx4 UTSW 5 107,577,693 (GRCm39) missense probably damaging 0.99
R0055:Ephx4 UTSW 5 107,560,944 (GRCm39) missense probably damaging 1.00
R0055:Ephx4 UTSW 5 107,560,944 (GRCm39) missense probably damaging 1.00
R0408:Ephx4 UTSW 5 107,561,387 (GRCm39) missense probably damaging 1.00
R0413:Ephx4 UTSW 5 107,551,601 (GRCm39) missense probably benign 0.00
R0471:Ephx4 UTSW 5 107,561,379 (GRCm39) missense possibly damaging 0.51
R1570:Ephx4 UTSW 5 107,567,717 (GRCm39) missense probably damaging 1.00
R4366:Ephx4 UTSW 5 107,551,679 (GRCm39) unclassified probably benign
R5895:Ephx4 UTSW 5 107,577,518 (GRCm39) splice site probably null
R5933:Ephx4 UTSW 5 107,551,631 (GRCm39) splice site probably null
R6326:Ephx4 UTSW 5 107,553,977 (GRCm39) missense probably damaging 1.00
R6505:Ephx4 UTSW 5 107,551,522 (GRCm39) nonsense probably null
R6606:Ephx4 UTSW 5 107,560,931 (GRCm39) missense probably damaging 1.00
R6848:Ephx4 UTSW 5 107,574,784 (GRCm39) missense probably damaging 1.00
R6901:Ephx4 UTSW 5 107,561,427 (GRCm39) missense probably benign 0.29
R7017:Ephx4 UTSW 5 107,553,980 (GRCm39) missense probably damaging 0.98
R7484:Ephx4 UTSW 5 107,577,612 (GRCm39) missense probably damaging 1.00
R7999:Ephx4 UTSW 5 107,567,699 (GRCm39) missense probably damaging 1.00
R8371:Ephx4 UTSW 5 107,561,384 (GRCm39) missense possibly damaging 0.94
R9030:Ephx4 UTSW 5 107,577,549 (GRCm39) missense possibly damaging 0.79
R9712:Ephx4 UTSW 5 107,567,647 (GRCm39) missense probably benign 0.12
X0019:Ephx4 UTSW 5 107,567,726 (GRCm39) missense possibly damaging 0.88
Predicted Primers
Posted On 2017-04-14