Incidental Mutation 'IGL02423:Epx'
ID292796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epx
Ensembl Gene ENSMUSG00000052234
Gene Nameeosinophil peroxidase
SynonymsEPO
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02423
Quality Score
Status
Chromosome11
Chromosomal Location87864000-87875536 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87871318 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 369 (I369T)
Ref Sequence ENSEMBL: ENSMUSP00000050497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049768]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049768
AA Change: I369T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: I369T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:An_peroxidase 146 690 8.3e-184 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125590
Coding Region Coverage
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca6 A G 11: 110,219,006 probably benign Het
Adarb2 A T 13: 8,569,720 R81W probably damaging Het
Adgrf4 T C 17: 42,672,576 I72V probably benign Het
Banp A G 8: 122,007,091 I360V probably benign Het
Bmp8a C A 4: 123,316,427 G289C possibly damaging Het
Car3 A T 3: 14,866,851 H94L probably damaging Het
Ccdc137 G A 11: 120,460,101 R108H possibly damaging Het
Cdk14 T C 5: 4,888,905 N411S probably benign Het
Col4a2 A G 8: 11,433,800 M907V probably benign Het
Cyp4f17 T A 17: 32,506,949 W19R possibly damaging Het
Dmxl2 A G 9: 54,393,748 S2360P possibly damaging Het
Eif2d T G 1: 131,153,360 probably benign Het
Fcgbp A G 7: 28,089,953 E648G probably benign Het
Fer1l4 G A 2: 156,052,907 P14L probably benign Het
Folr1 A G 7: 101,858,525 F236S probably benign Het
Foxj2 T G 6: 122,842,773 M540R possibly damaging Het
Gm14025 T C 2: 129,048,048 E42G probably benign Het
Gtf2h1 A G 7: 46,815,400 T420A probably benign Het
H2-T3 T A 17: 36,187,356 T222S probably damaging Het
Ice1 A T 13: 70,592,599 M2163K probably damaging Het
Inppl1 A G 7: 101,832,243 V244A probably benign Het
Kansl3 A T 1: 36,351,969 V373D probably damaging Het
Kdm3a A G 6: 71,614,003 probably benign Het
Krtap1-3 A T 11: 99,590,854 C156S unknown Het
Mab21l3 T C 3: 101,818,729 D317G probably damaging Het
Nox3 T C 17: 3,682,916 H240R probably damaging Het
Nxn A T 11: 76,274,032 S218T probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Olfr781 G A 10: 129,333,528 V216I probably benign Het
Pcdhb13 T C 18: 37,444,339 V590A possibly damaging Het
Pim3 T C 15: 88,863,531 V200A probably benign Het
Plekha3 T C 2: 76,680,180 F20L probably damaging Het
Pmp22 G T 11: 63,158,292 R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 D364A probably benign Het
Psd A G 19: 46,314,504 F155L possibly damaging Het
Rbm22 T C 18: 60,571,819 probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Ryr2 A T 13: 11,745,198 F1556I probably damaging Het
Scap G A 9: 110,378,617 A465T probably benign Het
Sdf2 A G 11: 78,251,018 S60G probably damaging Het
Sema3a T C 5: 13,565,809 I400T probably damaging Het
Ski T C 4: 155,159,734 D478G probably damaging Het
Slc12a7 A T 13: 73,763,763 probably benign Het
Slc9a3r1 A G 11: 115,163,713 probably null Het
Sned1 A G 1: 93,283,600 T1074A probably benign Het
Srebf2 A G 15: 82,175,097 T239A probably damaging Het
Stk4 C T 2: 164,086,499 H84Y probably benign Het
Syne1 G T 10: 5,368,295 Q444K probably benign Het
Tecpr1 T A 5: 144,203,487 I817F possibly damaging Het
Tep1 G T 14: 50,844,620 Q1159K possibly damaging Het
Tmem39b G A 4: 129,678,649 H387Y probably damaging Het
Tpp1 T C 7: 105,749,700 H174R probably damaging Het
Ttn C T 2: 76,705,273 V35134I probably benign Het
Usp34 A G 11: 23,354,900 I378V probably benign Het
Vmn2r1 T A 3: 64,090,244 H440Q probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 D144E possibly damaging Het
Zic4 C A 9: 91,384,175 H284N probably damaging Het
Zkscan6 A G 11: 65,828,294 H380R probably benign Het
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
K7371:Epx UTSW 11 87864884 missense probably damaging 1.00
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
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 On2015-04-16