Incidental Mutation 'R0031:Pwp1'
ID 18636
Institutional Source Beutler Lab
Gene Symbol Pwp1
Ensembl Gene ENSMUSG00000001785
Gene Name PWP1 homolog, endonuclein
Synonyms 2610205J09Rik, 2310058A11Rik
MMRRC Submission 038325-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0031 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 85707695-85724967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85721760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 422 (I422T)
Ref Sequence ENSEMBL: ENSMUSP00000001836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000219256]
AlphaFold Q99LL5
Predicted Effect probably benign
Transcript: ENSMUST00000001836
AA Change: I422T

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: I422T

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: ENSMUST00000219256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219902
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 G A 2: 69,115,652 (GRCm39) R571C probably damaging Het
Agr3 T C 12: 35,997,590 (GRCm39) M100T probably benign Het
Ankrd7 T A 6: 18,870,007 (GRCm39) Y253* probably null Het
Atp2c2 A T 8: 120,475,801 (GRCm39) T565S probably benign Het
Ccdc88b G T 19: 6,831,151 (GRCm39) S597Y possibly damaging Het
Celsr2 T C 3: 108,320,379 (GRCm39) N811S probably damaging Het
Cep170 A T 1: 176,583,657 (GRCm39) D907E probably damaging Het
Cip2a C T 16: 48,837,736 (GRCm39) S812F probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cmss1 T G 16: 57,131,612 (GRCm39) probably null Het
Cobl T C 11: 12,204,945 (GRCm39) T579A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csrp2 C T 10: 110,774,601 (GRCm39) S172L probably benign Het
Fip1l1 T C 5: 74,717,770 (GRCm39) S235P probably damaging Het
Gbgt1 T A 2: 28,388,462 (GRCm39) probably benign Het
Gml2 T C 15: 74,696,125 (GRCm39) I173T probably benign Het
Gucy2c T A 6: 136,674,997 (GRCm39) I1005F probably damaging Het
Irak3 T A 10: 120,012,225 (GRCm39) K88* probably null Het
Klc1 T C 12: 111,743,467 (GRCm39) Y265H probably damaging Het
Lamb1 G A 12: 31,351,155 (GRCm39) V754I probably benign Het
Lrguk A T 6: 34,020,431 (GRCm39) Q58H probably damaging Het
Lyst A G 13: 13,882,741 (GRCm39) D2902G probably benign Het
Mtpap T A 18: 4,383,244 (GRCm39) I207N probably damaging Het
Ncdn A T 4: 126,643,901 (GRCm39) probably null Het
Nup160 A G 2: 90,547,931 (GRCm39) probably null Het
Ormdl1 A G 1: 53,338,318 (GRCm39) probably benign Het
Pde5a A G 3: 122,596,704 (GRCm39) M432V probably benign Het
Pikfyve T A 1: 65,255,088 (GRCm39) probably benign Het
Plcb2 A G 2: 118,545,942 (GRCm39) V581A probably benign Het
Plpp6 T A 19: 28,942,243 (GRCm39) N281K probably benign Het
Rims1 T C 1: 22,367,103 (GRCm39) N1199S probably damaging Het
Sema3c T C 5: 17,899,726 (GRCm39) L406P probably damaging Het
Senp6 C T 9: 80,033,525 (GRCm39) P84L probably damaging Het
Setx A G 2: 29,066,941 (GRCm39) I2361V probably benign Het
Slc25a12 C T 2: 71,163,958 (GRCm39) V106M possibly damaging Het
Slc3a1 A G 17: 85,340,274 (GRCm39) Y232C probably damaging Het
Spata31g1 A T 4: 42,973,712 (GRCm39) K1015M probably damaging Het
Taf1c A T 8: 120,325,829 (GRCm39) C678S probably benign Het
Tcp11l2 G T 10: 84,427,004 (GRCm39) C156F probably damaging Het
Tmem62 A G 2: 120,829,594 (GRCm39) T316A probably benign Het
Ulk4 A G 9: 121,102,048 (GRCm39) I10T probably damaging Het
Vps54 T C 11: 21,262,899 (GRCm39) I824T probably damaging Het
Wdfy3 A T 5: 102,037,161 (GRCm39) V2042E probably damaging Het
Wfdc6b A T 2: 164,455,779 (GRCm39) E36V probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign 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
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 2013-03-25