Incidental Mutation 'IGL03164:Pwp1'
ID411534
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 #IGL03164
Quality Score
Status
Chromosome10
Chromosomal Location85829494-85889096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85878503 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 103 (F103Y)
Ref Sequence ENSEMBL: ENSMUSP00000152025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000217667] [ENSMUST00000219256]
Predicted Effect probably benign
Transcript: ENSMUST00000001836
AA Change: F175Y

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: F175Y

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
AA Change: F103Y

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,649 D256G probably damaging Het
Abcb11 A T 2: 69,291,999 L380* probably null Het
Aco1 A T 4: 40,167,116 N110I probably benign Het
Adamts9 T C 6: 92,889,937 D126G probably damaging Het
Anks1b T G 10: 90,042,692 V121G probably damaging Het
Ap1s3 A G 1: 79,625,170 L40P probably damaging Het
Cd19 C A 7: 126,413,509 M237I possibly damaging Het
Chil6 T C 3: 106,394,398 T129A probably benign Het
Chtf18 A G 17: 25,726,842 M94T probably benign Het
Clstn2 G T 9: 97,799,409 D59E possibly damaging Het
Ctnnbl1 A C 2: 157,817,761 M253L probably benign Het
Erg T C 16: 95,409,871 T41A possibly damaging Het
Gjc1 T A 11: 102,800,721 N152I possibly damaging Het
Ints1 A G 5: 139,752,735 L2084P probably damaging Het
Isoc1 C T 18: 58,673,332 S238L probably damaging Het
Kdm5a T A 6: 120,439,019 D1633E probably damaging Het
Krt76 T C 15: 101,887,451 D428G possibly damaging Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lrp2 G T 2: 69,464,699 T3425K probably damaging Het
Lta4h T C 10: 93,470,797 probably benign Het
Nap1l4 C T 7: 143,538,216 probably null Het
Nlrp5 T A 7: 23,418,373 Y507* probably null Het
Nps T C 7: 135,272,310 S53P probably damaging Het
Olfr446 C T 6: 42,928,130 R300* probably null Het
Olfr491 T C 7: 108,317,694 S267P probably damaging Het
Oprk1 A T 1: 5,598,864 I178F probably damaging Het
Osgin2 G T 4: 16,001,938 S204R probably benign Het
Otop1 G T 5: 38,287,962 G155* probably null Het
Peli3 A G 19: 4,936,116 probably null Het
Pex7 T A 10: 19,894,715 probably benign Het
Pfkm T C 15: 98,131,962 L749P probably damaging Het
Rhod T C 19: 4,432,801 K63E possibly damaging Het
Rtl1 T C 12: 109,592,933 E824G probably damaging Het
Sema4d A G 13: 51,708,922 F467L possibly damaging Het
Sept10 T C 10: 59,181,099 E201G probably damaging Het
Slc37a3 G A 6: 39,345,303 T389I probably benign Het
Slco2b1 C T 7: 99,685,536 A243T probably damaging Het
Sorbs2 A G 8: 45,782,874 T187A probably benign Het
Supt20 T A 3: 54,713,188 D389E probably benign Het
Tchh A G 3: 93,445,392 D713G unknown Het
Trappc10 T C 10: 78,220,242 R209G probably damaging Het
Unc119 A G 11: 78,348,176 D176G probably damaging Het
Usb1 G A 8: 95,333,484 R21Q probably damaging 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
IGL02596:Pwp1 APN 10 85872018 splice site probably null
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 On2016-08-02