Incidental Mutation 'IGL02017:Epn3'
ID183786
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 #IGL02017
Quality Score
Status
Chromosome11
Chromosomal Location94489599-94499974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94495026 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 190 (S190P)
Ref Sequence ENSEMBL: ENSMUSP00000121390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127305]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000010224
Predicted Effect probably benign
Transcript: ENSMUST00000127305
AA Change: S190P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080
AA Change: S190P

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,781,759 I544N probably benign Het
Ago2 T C 15: 73,126,517 T271A probably benign Het
Aox3 A C 1: 58,120,992 K111N probably damaging Het
Arhgap39 G A 15: 76,737,037 R455C probably damaging Het
Brcc3 A G X: 75,422,783 D67G possibly damaging Het
Crot T G 5: 8,970,046 probably benign Het
Dusp5 A G 19: 53,537,506 H193R probably damaging Het
Ect2 G A 3: 27,122,044 R644* probably null Het
Fam3c A G 6: 22,343,277 M1T probably null Het
Fam69c A T 18: 84,736,825 D142V probably damaging Het
Kif4 A G X: 100,638,354 N197S probably benign Het
Krt2 T C 15: 101,816,504 N224D probably damaging Het
Lama1 A G 17: 67,764,725 H869R probably benign Het
Lrrc14 G T 15: 76,713,742 R224L probably damaging Het
Macf1 T C 4: 123,499,931 D864G probably damaging Het
Map3k11 C T 19: 5,697,623 S603F possibly damaging Het
Mxra7 A G 11: 116,811,921 probably null Het
Myo5b C A 18: 74,716,999 D1139E probably damaging Het
Nek9 T C 12: 85,329,923 Y228C probably damaging Het
Nxph1 T C 6: 9,247,743 I238T probably damaging Het
Olfr1502 T A 19: 13,862,231 V146E possibly damaging Het
Olfr199 A G 16: 59,215,947 L222P probably damaging Het
Olfr458 T C 6: 42,460,824 H65R probably benign Het
Pdpn A G 4: 143,270,570 probably benign Het
Plbd2 T C 5: 120,488,558 T329A probably damaging Het
Ptpn6 T C 6: 124,732,486 D8G probably damaging Het
Rad54l2 T C 9: 106,754,040 D16G possibly damaging Het
Slc43a3 A G 2: 84,938,241 E68G probably damaging Het
Snph G A 2: 151,600,982 R16C probably damaging Het
Ttn G A 2: 76,725,216 R28736* probably null Het
Vmn1r18 G A 6: 57,389,756 A271V probably benign Het
Other mutations in Epn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Epn3 APN 11 94491630 missense possibly damaging 0.92
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
R7944:Epn3 UTSW 11 94496274 missense probably damaging 1.00
T0975:Epn3 UTSW 11 94491907 critical splice donor site probably null
Posted On2014-05-07