Incidental Mutation 'R1312:Pwp1'
ID 157969
Institutional Source Beutler Lab
Gene Symbol Pwp1
Ensembl Gene ENSMUSG00000001785
Gene Name PWP1 homolog, endonuclein
Synonyms 2610205J09Rik, 2310058A11Rik
MMRRC Submission 039378-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1312 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 85707695-85724967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85715173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 220 (D220N)
Ref Sequence ENSEMBL: ENSMUSP00000001836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000217667] [ENSMUST00000219256]
AlphaFold Q99LL5
Predicted Effect probably damaging
Transcript: ENSMUST00000001836
AA Change: D220N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: D220N

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 benign
Transcript: ENSMUST00000217667
Predicted Effect probably benign
Transcript: ENSMUST00000219256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219902
Meta Mutation Damage Score 0.7740 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 85.7%
Validation Efficiency 98% (41/42)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A T 4: 103,127,994 (GRCm39) F44I probably damaging Het
Acot10 A G 15: 20,666,585 (GRCm39) V52A probably benign Het
Arhgap32 T C 9: 32,166,608 (GRCm39) V415A probably benign Het
Cacna2d3 T C 14: 28,767,625 (GRCm39) D750G probably benign Het
Cdh15 G A 8: 123,588,188 (GRCm39) probably benign Het
Edem2 T G 2: 155,544,505 (GRCm39) D415A probably damaging Het
Eml6 A G 11: 29,781,219 (GRCm39) probably benign Het
Ercc5 T C 1: 44,203,179 (GRCm39) F272S probably damaging Het
Fcamr C T 1: 130,739,224 (GRCm39) R175C probably damaging Het
Frem3 G A 8: 81,341,951 (GRCm39) V1415I probably benign Het
Fry T C 5: 150,326,897 (GRCm39) probably benign Het
Gm14443 A T 2: 175,013,383 (GRCm39) probably benign Het
Ift70a2 A T 2: 75,806,676 (GRCm39) V612D probably benign Het
Insrr A G 3: 87,707,797 (GRCm39) T80A probably damaging Het
Itih2 T A 2: 10,102,735 (GRCm39) T800S probably benign Het
Lgals9 G A 11: 78,867,443 (GRCm39) Q42* probably null Het
Lrrk2 A G 15: 91,584,098 (GRCm39) N286S probably damaging Het
Mefv A G 16: 3,526,398 (GRCm39) probably benign Het
Mkx T A 18: 6,937,192 (GRCm39) D284V probably benign Het
Mtrex A C 13: 113,019,785 (GRCm39) L775* probably null Het
Or11g27 T A 14: 50,771,652 (GRCm39) I261K probably benign Het
Pde1b T G 15: 103,434,700 (GRCm39) S339A possibly damaging Het
Plch2 C T 4: 155,074,256 (GRCm39) V765M probably damaging Het
Ppp4r3b A T 11: 29,123,358 (GRCm39) Q18L probably benign Het
Psme4 T A 11: 30,757,687 (GRCm39) probably null Het
Rel G A 11: 23,707,010 (GRCm39) T64I probably damaging Het
Rho C G 6: 115,912,566 (GRCm39) N160K probably damaging Het
Sntb2 A G 8: 107,728,209 (GRCm39) T386A probably damaging Het
Styxl2 A T 1: 165,926,860 (GRCm39) N917K possibly damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn1r167 A G 7: 23,204,548 (GRCm39) F156S probably benign Het
Vrk2 G A 11: 26,485,522 (GRCm39) probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp638 A G 6: 83,906,023 (GRCm39) N63D probably damaging 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
IGL02596:Pwp1 APN 10 85,707,882 (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
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
Predicted Primers PCR Primer
(F):5'- CATAGCTGAGGCCAGAGGATCAAAC -3'
(R):5'- CTTACCACCTGGATCATCTGCCAAC -3'

Sequencing Primer
(F):5'- AACTCTCAAGCTCAGGGGTG -3'
(R):5'- TCTGCCAACAAGGTTCATGC -3'
Posted On 2014-02-18