Incidental Mutation 'IGL03172:Epn3'
ID411874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epn3
Ensembl Gene ENSMUSG00000010080
Gene Nameepsin 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03172
Quality Score
Status
Chromosome11
Chromosomal Location94489599-94499974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94491630 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 508 (N508S)
Ref Sequence ENSEMBL: ENSMUSP00000121390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127305]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000010224
Predicted Effect possibly damaging
Transcript: ENSMUST00000127305
AA Change: N508S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080
AA Change: N508S

DomainStartEndE-ValueType
ENTH 18 144 1.3e-62 SMART
low complexity region 167 190 N/A INTRINSIC
UIM 202 221 2.11e-2 SMART
UIM 229 248 5.27e-3 SMART
low complexity region 269 285 N/A INTRINSIC
low complexity region 554 572 N/A INTRINSIC
low complexity region 578 588 N/A INTRINSIC
low complexity region 599 618 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150526
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Epn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Epn3 APN 11 94495026 missense probably benign 0.04
PIT4362001:Epn3 UTSW 11 94496523 missense probably damaging 1.00
PIT4418001:Epn3 UTSW 11 94496130 missense probably damaging 1.00
R4893:Epn3 UTSW 11 94491996 missense probably damaging 0.99
R5173:Epn3 UTSW 11 94496097 missense probably damaging 0.97
R6526:Epn3 UTSW 11 94494932 critical splice donor site probably null
R6882:Epn3 UTSW 11 94491360 missense probably benign 0.00
R7120:Epn3 UTSW 11 94492428 missense probably benign 0.41
R7326:Epn3 UTSW 11 94493780 missense probably benign 0.02
R7861:Epn3 UTSW 11 94496274 missense probably damaging 1.00
R8373:Epn3 UTSW 11 94492936 missense probably damaging 1.00
R8507:Epn3 UTSW 11 94493776 missense probably damaging 0.99
T0975:Epn3 UTSW 11 94491907 critical splice donor site probably null
Posted On2016-08-02