Incidental Mutation 'IGL02017:Epn3'
ID 183786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epn3
Ensembl Gene ENSMUSG00000010080
Gene Name epsin 3
Synonyms 2310022G12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02017
Quality Score
Status
Chromosome 11
Chromosomal Location 94380425-94390800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94385852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 190 (S190P)
Ref Sequence ENSEMBL: ENSMUSP00000121390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127305]
AlphaFold Q91W69
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: 25,271,775 (GRCm39) I544N probably benign Het
Ago2 T C 15: 72,998,366 (GRCm39) T271A probably benign Het
Aox3 A C 1: 58,160,151 (GRCm39) K111N probably damaging Het
Arhgap39 G A 15: 76,621,237 (GRCm39) R455C probably damaging Het
Brcc3 A G X: 74,466,389 (GRCm39) D67G possibly damaging Het
Crot T G 5: 9,020,046 (GRCm39) probably benign Het
Dipk1c A T 18: 84,754,950 (GRCm39) D142V probably damaging Het
Dusp5 A G 19: 53,525,937 (GRCm39) H193R probably damaging Het
Ect2 G A 3: 27,176,193 (GRCm39) R644* probably null Het
Fam3c A G 6: 22,343,276 (GRCm39) M1T probably null Het
Kif4 A G X: 99,681,960 (GRCm39) N197S probably benign Het
Krt1c T C 15: 101,724,939 (GRCm39) N224D probably damaging Het
Lama1 A G 17: 68,071,720 (GRCm39) H869R probably benign Het
Lrrc14 G T 15: 76,597,942 (GRCm39) R224L probably damaging Het
Macf1 T C 4: 123,393,724 (GRCm39) D864G probably damaging Het
Map3k11 C T 19: 5,747,651 (GRCm39) S603F possibly damaging Het
Mxra7 A G 11: 116,702,747 (GRCm39) probably null Het
Myo5b C A 18: 74,850,070 (GRCm39) D1139E probably damaging Het
Nek9 T C 12: 85,376,697 (GRCm39) Y228C probably damaging Het
Nxph1 T C 6: 9,247,743 (GRCm39) I238T probably damaging Het
Or2r11 T C 6: 42,437,758 (GRCm39) H65R probably benign Het
Or5ac17 A G 16: 59,036,310 (GRCm39) L222P probably damaging Het
Or9i1 T A 19: 13,839,595 (GRCm39) V146E possibly damaging Het
Pdpn A G 4: 142,997,140 (GRCm39) probably benign Het
Plbd2 T C 5: 120,626,623 (GRCm39) T329A probably damaging Het
Ptpn6 T C 6: 124,709,449 (GRCm39) D8G probably damaging Het
Rad54l2 T C 9: 106,631,239 (GRCm39) D16G possibly damaging Het
Slc43a3 A G 2: 84,768,585 (GRCm39) E68G probably damaging Het
Snph G A 2: 151,442,902 (GRCm39) R16C probably damaging Het
Ttn G A 2: 76,555,560 (GRCm39) R28736* probably null Het
Vmn1r18 G A 6: 57,366,741 (GRCm39) A271V probably benign Het
Other mutations in Epn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Epn3 APN 11 94,382,456 (GRCm39) missense possibly damaging 0.92
PIT4362001:Epn3 UTSW 11 94,387,349 (GRCm39) missense probably damaging 1.00
PIT4418001:Epn3 UTSW 11 94,386,956 (GRCm39) missense probably damaging 1.00
R4893:Epn3 UTSW 11 94,382,822 (GRCm39) missense probably damaging 0.99
R5173:Epn3 UTSW 11 94,386,923 (GRCm39) missense probably damaging 0.97
R6526:Epn3 UTSW 11 94,385,758 (GRCm39) critical splice donor site probably null
R6882:Epn3 UTSW 11 94,382,186 (GRCm39) missense probably benign 0.00
R7120:Epn3 UTSW 11 94,383,254 (GRCm39) missense probably benign 0.41
R7326:Epn3 UTSW 11 94,384,606 (GRCm39) missense probably benign 0.02
R7861:Epn3 UTSW 11 94,387,100 (GRCm39) missense probably damaging 1.00
R8373:Epn3 UTSW 11 94,383,762 (GRCm39) missense probably damaging 1.00
R8507:Epn3 UTSW 11 94,384,602 (GRCm39) missense probably damaging 0.99
R8742:Epn3 UTSW 11 94,386,921 (GRCm39) missense probably damaging 1.00
R8757:Epn3 UTSW 11 94,386,848 (GRCm39) missense possibly damaging 0.94
R8759:Epn3 UTSW 11 94,386,848 (GRCm39) missense possibly damaging 0.94
R8774:Epn3 UTSW 11 94,383,220 (GRCm39) missense possibly damaging 0.63
R8774-TAIL:Epn3 UTSW 11 94,383,220 (GRCm39) missense possibly damaging 0.63
R8983:Epn3 UTSW 11 94,386,914 (GRCm39) missense probably damaging 1.00
R9040:Epn3 UTSW 11 94,382,749 (GRCm39) missense possibly damaging 0.65
R9651:Epn3 UTSW 11 94,383,687 (GRCm39) critical splice donor site probably null
T0975:Epn3 UTSW 11 94,382,733 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07