Incidental Mutation 'R7999:Ephx4'
ID 616250
Institutional Source Beutler Lab
Gene Symbol Ephx4
Ensembl Gene ENSMUSG00000033805
Gene Name epoxide hydrolase 4
Synonyms Abhd7, LOC384214
MMRRC Submission 046039-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R7999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 107551379-107577901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107567699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 219 (Q219L)
Ref Sequence ENSEMBL: ENSMUSP00000043764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146]
AlphaFold Q6IE26
Predicted Effect probably damaging
Transcript: ENSMUST00000049146
AA Change: Q219L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: Q219L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,841,580 (GRCm39) E289G probably benign Het
Armc2 C T 10: 41,887,954 (GRCm39) E10K possibly damaging Het
Aspscr1 T C 11: 120,569,348 (GRCm39) probably null Het
B3galnt1 A G 3: 69,482,548 (GRCm39) C238R probably damaging Het
Bak1 A G 17: 27,240,280 (GRCm39) L129P probably damaging Het
Bdp1 A G 13: 100,195,404 (GRCm39) F1272L possibly damaging Het
C2cd3 G A 7: 100,109,096 (GRCm39) probably null Het
Cacna1b A T 2: 24,540,638 (GRCm39) V1363E probably damaging Het
Capn11 T C 17: 45,950,132 (GRCm39) N344S probably damaging Het
Ces1f A T 8: 93,989,623 (GRCm39) V431E possibly damaging Het
Cog3 G T 14: 75,984,533 (GRCm39) S94Y possibly damaging Het
Defa29 A T 8: 21,816,859 (GRCm39) S45T probably benign Het
Dnaaf9 C A 2: 130,579,372 (GRCm39) V753L probably benign Het
Dnah10 A G 5: 124,802,322 (GRCm39) D32G probably benign Het
Dnajc24 T A 2: 105,811,365 (GRCm39) N70I probably damaging Het
Duox2 C T 2: 122,113,948 (GRCm39) V1195I probably benign Het
Enam A T 5: 88,651,561 (GRCm39) R1023S probably benign Het
Eppk1 T C 15: 75,993,204 (GRCm39) T1226A probably benign Het
Eppk1 T C 15: 75,993,335 (GRCm39) Q1182R probably benign Het
Fiz1 A T 7: 5,011,997 (GRCm39) S174T probably benign Het
Ggnbp1 C T 17: 27,248,619 (GRCm39) R63C probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gsdmd T A 15: 75,735,295 (GRCm39) I13N probably damaging Het
Gtpbp4 T C 13: 9,037,322 (GRCm39) D292G probably damaging Het
Hnf1a A T 5: 115,098,233 (GRCm39) L123* probably null Het
Ints11 A G 4: 155,971,413 (GRCm39) D309G probably benign Het
Ints5 T C 19: 8,874,407 (GRCm39) S789P probably benign Het
Jakmip2 G A 18: 43,696,398 (GRCm39) A517V probably benign Het
Kat7 A G 11: 95,174,935 (GRCm39) Y270H probably damaging Het
Kmt2b A G 7: 30,276,199 (GRCm39) S1767P probably damaging Het
Lonp2 A G 8: 87,361,537 (GRCm39) D238G probably benign Het
Lrfn3 A G 7: 30,059,449 (GRCm39) W259R probably damaging Het
Mmrn2 G A 14: 34,119,879 (GRCm39) D250N probably benign Het
Mre11a A T 9: 14,710,965 (GRCm39) R49* probably null Het
Mug1 T C 6: 121,857,855 (GRCm39) L1116P possibly damaging Het
Mup9 A G 4: 60,374,202 (GRCm39) S234P probably benign Het
Nlrp9c A G 7: 26,084,914 (GRCm39) F222L possibly damaging Het
Nr2e3 A G 9: 59,856,282 (GRCm39) V85A probably damaging Het
Or4a79 A G 2: 89,552,344 (GRCm39) I37T probably benign Het
Prl3d2 A G 13: 27,307,949 (GRCm39) T77A probably benign Het
Prpsap1 A T 11: 116,381,042 (GRCm39) M1K probably null Het
Prrc2b C T 2: 32,084,426 (GRCm39) T297M probably damaging Het
Rasa3 A G 8: 13,681,805 (GRCm39) F48S probably benign Het
Rbm24 A T 13: 46,572,507 (GRCm39) M1L possibly damaging Het
Ren1 C A 1: 133,282,604 (GRCm39) T103K probably damaging Het
Rpf2 C T 10: 40,099,880 (GRCm39) G260S probably damaging Het
Sall4 C T 2: 168,594,561 (GRCm39) G862D probably damaging Het
Samd4 G T 14: 47,301,704 (GRCm39) R336L probably damaging Het
Shoc1 G C 4: 59,094,162 (GRCm39) F187L probably benign Het
Siglec1 T C 2: 130,913,083 (GRCm39) N1611S probably benign Het
Skil A G 3: 31,151,751 (GRCm39) H91R possibly damaging Het
Snip1 T C 4: 124,965,174 (GRCm39) V193A probably benign Het
Sp2 A T 11: 96,852,663 (GRCm39) I87N probably damaging Het
Syna T C 5: 134,588,046 (GRCm39) H301R probably benign Het
Tdg A G 10: 82,477,216 (GRCm39) K89R possibly damaging Het
Tdrd7 G A 4: 46,010,902 (GRCm39) probably null Het
Trak1 G A 9: 121,289,491 (GRCm39) R601H probably damaging Het
Triobp T C 15: 78,844,144 (GRCm39) L120P probably damaging Het
Utp20 A T 10: 88,606,250 (GRCm39) N1697K probably benign Het
Uts2r G A 11: 121,051,495 (GRCm39) V120M possibly damaging Het
Vmn2r59 A G 7: 41,696,256 (GRCm39) L162P probably damaging Het
Zbtb17 G A 4: 141,189,134 (GRCm39) R18Q probably damaging Het
Zfp551 A T 7: 12,151,138 (GRCm39) C90* probably null Het
Zfp605 T A 5: 110,276,300 (GRCm39) C473S probably damaging Het
Zfp764l1 T A 7: 126,991,600 (GRCm39) S117C probably damaging Het
Zfp975 A T 7: 42,312,356 (GRCm39) Y86N probably benign 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
R3700:Ephx4 UTSW 5 107,550,673 (GRCm39) missense probably benign 0.00
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
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 PCR Primer
(F):5'- GGTAGAGGAGAACTTTGTTTTCAC -3'
(R):5'- GTGCCTTCTCACAACAATAGAACAG -3'

Sequencing Primer
(F):5'- AGGGTATATGGAAACCTTGATGG -3'
(R):5'- TCACAACAATAGAACAGTAACTAAGC -3'
Posted On 2020-01-23