Incidental Mutation 'K7371:Epx'
ID7864
Institutional Source Beutler Lab
Gene Symbol Epx
Ensembl Gene ENSMUSG00000052234
Gene Nameeosinophil peroxidase
SynonymsEPO
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #K7371 of strain 614
Quality Score
Status Validated
Chromosome11
Chromosomal Location87864000-87875536 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87864884 bp
ZygosityHomozygous
Amino Acid Change Valine to Alanine at position 658 (V658A)
Ref Sequence ENSEMBL: ENSMUSP00000050497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038196] [ENSMUST00000049768]
Predicted Effect probably benign
Transcript: ENSMUST00000038196
SMART Domains Protein: ENSMUSP00000043790
Gene: ENSMUSG00000034121

DomainStartEndE-ValueType
low complexity region 163 170 N/A INTRINSIC
Pfam:B9-C2 316 496 1.8e-45 PFAM
low complexity region 533 547 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000049768
AA Change: V658A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: V658A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:An_peroxidase 146 690 8.3e-184 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135369
Meta Mutation Damage Score 0.5697 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 78.2%
Validation Efficiency 72% (67/93)
MGI Phenotype FUNCTION: This gene encodes a member of the peroxidase superfamily of enzymes that is produced by eosinophils and plays a critical role in eliminating tissue-invasive parasites. The encoded preproprotein undergoes proteolytic processing to generate a heterodimeric enzyme that forms a predominant component of the intracellular granules of eosinophils. Mice lacking the encoded protein exhibit resistance to ulcerative colitis induced by dextran sulfate. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 79,067,933 Y155C probably benign Homo
4932431P20Rik A G 7: 29,530,992 noncoding transcript Het
Alpi G A 1: 87,099,171 probably benign Homo
Ap4e1 T A 2: 127,066,536 probably benign Het
Arhgdib A T 6: 136,932,299 probably null Het
Ckap5 T C 2: 91,595,523 probably benign Het
Ddx50 A T 10: 62,621,510 M1K probably null Het
Ell3 T C 2: 121,439,488 H380R probably damaging Het
Ern1 A T 11: 106,400,275 I858N probably damaging Homo
Mtmr10 G A 7: 64,314,210 G231D probably benign Het
Nfx1 A G 4: 40,976,803 D159G probably damaging Homo
Opn5 A G 17: 42,580,631 I305T probably damaging Homo
Pak2 T C 16: 32,033,784 probably benign Het
Pkhd1l1 T A 15: 44,537,442 I2204K possibly damaging Het
Pkhd1l1 A T 15: 44,500,067 T628S possibly damaging Het
Smgc T A 15: 91,860,255 probably benign Het
Stab1 G A 14: 31,150,249 L1194F probably damaging Het
Stab2 A G 10: 86,943,289 probably null Homo
Tet1 T C 10: 62,879,176 D280G probably benign Het
Vcam1 A G 3: 116,124,649 I227T probably benign Homo
Other mutations in Epx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Epx APN 11 87869925 missense probably damaging 1.00
IGL01723:Epx APN 11 87869402 missense probably damaging 1.00
IGL02096:Epx APN 11 87869468 missense probably damaging 1.00
IGL02423:Epx APN 11 87871318 missense possibly damaging 0.85
R1018:Epx UTSW 11 87869303 missense probably benign 0.05
R1607:Epx UTSW 11 87868712 missense probably damaging 1.00
R2017:Epx UTSW 11 87874337 missense probably damaging 1.00
R2030:Epx UTSW 11 87864824 missense probably damaging 1.00
R3838:Epx UTSW 11 87874830 missense probably damaging 1.00
R4417:Epx UTSW 11 87869430 nonsense probably null
R5083:Epx UTSW 11 87872680 missense probably damaging 0.99
R5712:Epx UTSW 11 87874853 nonsense probably null
R5935:Epx UTSW 11 87865492 missense probably damaging 1.00
R6830:Epx UTSW 11 87868626 missense probably damaging 1.00
R6857:Epx UTSW 11 87869955 nonsense probably null
R6984:Epx UTSW 11 87868598 missense probably damaging 1.00
R7031:Epx UTSW 11 87875523 start gained probably benign
R7652:Epx UTSW 11 87875334 critical splice donor site probably null
R7667:Epx UTSW 11 87874311 missense probably damaging 0.98
R7969:Epx UTSW 11 87872721 missense probably benign 0.01
R8313:Epx UTSW 11 87872731 missense possibly damaging 0.71
R8559:Epx UTSW 11 87864792 missense probably damaging 0.99
X0065:Epx UTSW 11 87865475 missense probably benign 0.03
Z1177:Epx UTSW 11 87869261 missense probably damaging 1.00
Z1177:Epx UTSW 11 87869894 missense possibly damaging 0.56
Z1177:Epx UTSW 11 87872767 missense probably benign 0.00
Posted On2012-11-12