Incidental Mutation 'R7213:Pwp1'
ID 561226
Institutional Source Beutler Lab
Gene Symbol Pwp1
Ensembl Gene ENSMUSG00000001785
Gene Name PWP1 homolog, endonuclein
Synonyms 2610205J09Rik, 2310058A11Rik
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 85707695-85724967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85712173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 110 (I110F)
Ref Sequence ENSEMBL: ENSMUSP00000001836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000217667] [ENSMUST00000219256]
AlphaFold Q99LL5
Predicted Effect probably benign
Transcript: ENSMUST00000001836
AA Change: I110F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: I110F

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 probably benign
Transcript: ENSMUST00000217667
AA Change: I38F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000219256
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S 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
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
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'- CCAGATGTCAAATAGAACTGACTTG -3'
(R):5'- ACGATGAGGTTGTCAGTCGG -3'

Sequencing Primer
(F):5'- GAACTGACTTGTAAGTTTGTACAGC -3'
(R):5'- CATATTGTTCCTAAGTGGGAGGAGAC -3'
Posted On 2019-06-26