Incidental Mutation 'R0471:Ephx4'
ID 46747
Institutional Source Beutler Lab
Gene Symbol Ephx4
Ensembl Gene ENSMUSG00000033805
Gene Name epoxide hydrolase 4
Synonyms Abhd7, LOC384214
MMRRC Submission 038671-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R0471 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107551379-107577901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107561379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Ref Sequence ENSEMBL: ENSMUSP00000123962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049146] [ENSMUST00000159968] [ENSMUST00000161246] [ENSMUST00000161452]
AlphaFold Q6IE26
Predicted Effect possibly damaging
Transcript: ENSMUST00000049146
AA Change: V162A

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: V162A

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: ENSMUST00000159968
AA Change: V107A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125261
Gene: ENSMUSG00000033805
AA Change: V107A

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 possibly damaging
Transcript: ENSMUST00000161246
AA Change: V69A

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123962
Gene: ENSMUSG00000033805
AA Change: V69A

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
AA Change: V69A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124661
Gene: ENSMUSG00000033805
AA Change: V69A

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
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A probably damaging 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
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
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 PCR Primer
(F):5'- GAGTCTGATGCACCTGCTCATCAAG -3'
(R):5'- TACCATGATCCACTGTGCTGGAGG -3'

Sequencing Primer
(F):5'- ccctgcttctgccatcc -3'
(R):5'- GGACCCTGAGATCTGGACATAAC -3'
Posted On 2013-06-11