Incidental Mutation 'IGL02596:Pwp1'
ID 299879
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pwp1
Ensembl Gene ENSMUSG00000001785
Gene Name PWP1 homolog, endonuclein
Synonyms 2610205J09Rik, 2310058A11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02596
Quality Score
Status
Chromosome 10
Chromosomal Location 85707695-85724967 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 85707882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000217667] [ENSMUST00000219256]
AlphaFold Q99LL5
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: ENSMUST00000219902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219626
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: 73,868,904 (GRCm39) Q11H possibly damaging Het
Armcx5 T A X: 134,647,268 (GRCm39) I448K probably damaging Het
Atp4b T A 8: 13,443,471 (GRCm39) Y69F possibly damaging Het
Ccdc7b T A 8: 129,798,959 (GRCm39) V12E probably benign Het
Cdc5l C A 17: 45,735,530 (GRCm39) probably benign Het
Clptm1l C T 13: 73,761,785 (GRCm39) R330C probably benign Het
Cpq C T 15: 33,213,160 (GRCm39) R60W probably damaging Het
Cpvl T C 6: 53,908,995 (GRCm39) Y256C probably damaging Het
Cryzl2 A T 1: 157,292,539 (GRCm39) D107V probably damaging Het
Cyp2e1 G A 7: 140,350,031 (GRCm39) V239M probably damaging Het
Cyp2j7 T A 4: 96,103,659 (GRCm39) D292V possibly damaging Het
Dcaf1 A G 9: 106,740,220 (GRCm39) Y1202C probably damaging Het
Dnah3 T C 7: 119,538,137 (GRCm39) N3616S probably benign Het
Enam A G 5: 88,650,885 (GRCm39) D723G probably benign Het
Eps8l1 G A 7: 4,473,871 (GRCm39) R226H probably damaging Het
Erich2 A G 2: 70,343,147 (GRCm39) probably benign Het
Esyt3 A C 9: 99,210,068 (GRCm39) L271V probably benign Het
Fer1l4 T C 2: 155,881,052 (GRCm39) N838S probably benign Het
Gad1 T C 2: 70,425,028 (GRCm39) Y441H probably damaging Het
Gja1 G T 10: 56,264,348 (GRCm39) V236F possibly damaging Het
Gpr156 T C 16: 37,799,086 (GRCm39) I100T probably benign Het
Hace1 A G 10: 45,576,736 (GRCm39) T803A possibly damaging Het
Jagn1 G A 6: 113,424,562 (GRCm39) V145I probably benign Het
Kdm4b C A 17: 56,706,706 (GRCm39) T899K probably benign Het
Klk1b8 G A 7: 43,602,187 (GRCm39) V40M probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mast1 G T 8: 85,644,400 (GRCm39) A843E probably benign Het
Mbd1 T A 18: 74,409,868 (GRCm39) probably benign Het
Mdga1 A G 17: 30,051,379 (GRCm39) probably benign Het
Mlh3 A G 12: 85,287,732 (GRCm39) probably null Het
Or10ag53 C A 2: 87,082,473 (GRCm39) T64K probably damaging Het
Or5b109 A T 19: 13,211,763 (GRCm39) I50F probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,242 (GRCm39) V100E probably benign Het
Spata31e2 T A 1: 26,723,083 (GRCm39) H699L probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tgfb1i1 T A 7: 127,848,068 (GRCm39) M1K probably null Het
Tubgcp6 T A 15: 88,985,117 (GRCm39) E1657V probably damaging Het
Zfp770 A G 2: 114,026,308 (GRCm39) V587A probably benign Het
Zxdc A G 6: 90,350,691 (GRCm39) probably null Het
Other mutations in Pwp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:Pwp1 APN 10 85,714,380 (GRCm39) missense probably damaging 1.00
IGL00778:Pwp1 APN 10 85,715,752 (GRCm39) missense probably benign 0.05
IGL01086:Pwp1 APN 10 85,715,757 (GRCm39) splice site probably null
IGL02526:Pwp1 APN 10 85,717,967 (GRCm39) splice site probably null
IGL03164:Pwp1 APN 10 85,714,367 (GRCm39) missense probably benign 0.19
IGL03269:Pwp1 APN 10 85,718,768 (GRCm39) missense probably damaging 0.98
Annuals UTSW 10 85,712,378 (GRCm39) missense probably damaging 1.00
R0031:Pwp1 UTSW 10 85,721,760 (GRCm39) missense probably benign 0.20
R0049:Pwp1 UTSW 10 85,721,480 (GRCm39) missense possibly damaging 0.67
R0049:Pwp1 UTSW 10 85,721,480 (GRCm39) missense possibly damaging 0.67
R0766:Pwp1 UTSW 10 85,715,173 (GRCm39) missense probably damaging 0.98
R0926:Pwp1 UTSW 10 85,712,378 (GRCm39) missense probably damaging 1.00
R1238:Pwp1 UTSW 10 85,721,726 (GRCm39) missense probably benign 0.02
R1312:Pwp1 UTSW 10 85,715,173 (GRCm39) missense probably damaging 0.98
R1420:Pwp1 UTSW 10 85,712,402 (GRCm39) missense probably damaging 1.00
R3177:Pwp1 UTSW 10 85,717,943 (GRCm39) missense probably benign 0.45
R3277:Pwp1 UTSW 10 85,717,943 (GRCm39) missense probably benign 0.45
R3818:Pwp1 UTSW 10 85,723,993 (GRCm39) missense possibly damaging 0.76
R4008:Pwp1 UTSW 10 85,717,898 (GRCm39) missense possibly damaging 0.60
R5964:Pwp1 UTSW 10 85,718,750 (GRCm39) missense probably damaging 1.00
R6252:Pwp1 UTSW 10 85,710,373 (GRCm39) missense probably benign 0.00
R6280:Pwp1 UTSW 10 85,710,326 (GRCm39) missense probably damaging 0.99
R6765:Pwp1 UTSW 10 85,720,397 (GRCm39) missense probably damaging 0.99
R7168:Pwp1 UTSW 10 85,720,401 (GRCm39) missense probably damaging 1.00
R7213:Pwp1 UTSW 10 85,712,173 (GRCm39) missense probably benign
R7236:Pwp1 UTSW 10 85,715,147 (GRCm39) missense probably benign 0.00
R7840:Pwp1 UTSW 10 85,723,914 (GRCm39) missense probably damaging 1.00
R9025:Pwp1 UTSW 10 85,718,745 (GRCm39) missense probably damaging 1.00
R9063:Pwp1 UTSW 10 85,720,431 (GRCm39) missense probably benign 0.00
R9366:Pwp1 UTSW 10 85,717,870 (GRCm39) missense probably damaging 0.99
R9451:Pwp1 UTSW 10 85,714,428 (GRCm39) missense probably damaging 0.99
R9535:Pwp1 UTSW 10 85,723,958 (GRCm39) missense possibly damaging 0.57
R9563:Pwp1 UTSW 10 85,712,370 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16