Incidental Mutation 'IGL02596:Pwp1'
ID299879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pwp1
Ensembl Gene ENSMUSG00000001785
Gene NamePWP1 homolog, endonuclein
Synonyms2610205J09Rik, 2310058A11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02596
Quality Score
Status
Chromosome10
Chromosomal Location85829494-85889096 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 85872018 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000217667] [ENSMUST00000219256]
Predicted Effect probably null
Transcript: ENSMUST00000001836
SMART Domains Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Blast:WD40 168 220 4e-27 BLAST
WD40 244 284 4.51e-7 SMART
WD40 287 327 3.37e-6 SMART
WD40 331 370 4.42e1 SMART
WD40 373 413 6.38e-7 SMART
Blast:WD40 418 458 3e-23 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164562
Predicted Effect probably null
Transcript: ENSMUST00000168509
SMART Domains Protein: ENSMUSP00000130733
Gene: ENSMUSG00000001785

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217667
Predicted Effect probably benign
Transcript: ENSMUST00000219256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219902
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,950,667 Q11H possibly damaging Het
4931408C20Rik T A 1: 26,684,002 H699L probably benign Het
Armcx5 T A X: 135,746,519 I448K probably damaging Het
Atp4b T A 8: 13,393,471 Y69F possibly damaging Het
Ccdc7b T A 8: 129,072,478 V12E probably benign Het
Cdc5l C A 17: 45,424,604 probably benign Het
Clptm1l C T 13: 73,613,666 R330C probably benign Het
Cpq C T 15: 33,213,014 R60W probably damaging Het
Cpvl T C 6: 53,932,010 Y256C probably damaging Het
Cryzl2 A T 1: 157,464,969 D107V probably damaging Het
Cyp2e1 G A 7: 140,770,118 V239M probably damaging Het
Cyp2j7 T A 4: 96,215,422 D292V possibly damaging Het
Dcaf1 A G 9: 106,863,021 Y1202C probably damaging Het
Dnah3 T C 7: 119,938,914 N3616S probably benign Het
Enam A G 5: 88,503,026 D723G probably benign Het
Eps8l1 G A 7: 4,470,872 R226H probably damaging Het
Erich2 A G 2: 70,512,803 probably benign Het
Esyt3 A C 9: 99,328,015 L271V probably benign Het
Fer1l4 T C 2: 156,039,132 N838S probably benign Het
Gad1 T C 2: 70,594,684 Y441H probably damaging Het
Gja1 G T 10: 56,388,252 V236F possibly damaging Het
Gpr156 T C 16: 37,978,724 I100T probably benign Het
Hace1 A G 10: 45,700,640 T803A possibly damaging Het
Jagn1 G A 6: 113,447,601 V145I probably benign Het
Kdm4b C A 17: 56,399,706 T899K probably benign Het
Klk1b8 G A 7: 43,952,763 V40M probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mast1 G T 8: 84,917,771 A843E probably benign Het
Mbd1 T A 18: 74,276,797 probably benign Het
Mdga1 A G 17: 29,832,405 probably benign Het
Mlh3 A G 12: 85,240,958 probably null Het
Olfr1115 C A 2: 87,252,129 T64K probably damaging Het
Olfr1463 A T 19: 13,234,399 I50F probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc12a7 T A 13: 73,785,123 V100E probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tgfb1i1 T A 7: 128,248,896 M1K probably null Het
Tubgcp6 T A 15: 89,100,914 E1657V probably damaging Het
Zfp770 A G 2: 114,195,827 V587A probably benign Het
Zxdc A G 6: 90,373,709 probably null Het
Other mutations in Pwp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:Pwp1 APN 10 85878516 missense probably damaging 1.00
IGL00778:Pwp1 APN 10 85879888 missense probably benign 0.05
IGL01086:Pwp1 APN 10 85879893 splice site probably null
IGL02526:Pwp1 APN 10 85882103 splice site probably null
IGL03164:Pwp1 APN 10 85878503 missense probably benign 0.19
IGL03269:Pwp1 APN 10 85882904 missense probably damaging 0.98
Annuals UTSW 10 85876514 missense probably damaging 1.00
R0031:Pwp1 UTSW 10 85885896 missense probably benign 0.20
R0049:Pwp1 UTSW 10 85885616 missense possibly damaging 0.67
R0049:Pwp1 UTSW 10 85885616 missense possibly damaging 0.67
R0766:Pwp1 UTSW 10 85879309 missense probably damaging 0.98
R0926:Pwp1 UTSW 10 85876514 missense probably damaging 1.00
R1238:Pwp1 UTSW 10 85885862 missense probably benign 0.02
R1312:Pwp1 UTSW 10 85879309 missense probably damaging 0.98
R1420:Pwp1 UTSW 10 85876538 missense probably damaging 1.00
R3177:Pwp1 UTSW 10 85882079 missense probably benign 0.45
R3277:Pwp1 UTSW 10 85882079 missense probably benign 0.45
R3818:Pwp1 UTSW 10 85888129 missense possibly damaging 0.76
R4008:Pwp1 UTSW 10 85882034 missense possibly damaging 0.60
R5964:Pwp1 UTSW 10 85882886 missense probably damaging 1.00
R6252:Pwp1 UTSW 10 85874509 missense probably benign 0.00
R6280:Pwp1 UTSW 10 85874462 missense probably damaging 0.99
R6765:Pwp1 UTSW 10 85884533 missense probably damaging 0.99
R7168:Pwp1 UTSW 10 85884537 missense probably damaging 1.00
R7213:Pwp1 UTSW 10 85876309 missense probably benign
R7236:Pwp1 UTSW 10 85879283 missense probably benign 0.00
R7840:Pwp1 UTSW 10 85888050 missense probably damaging 1.00
Posted On2015-04-16