Incidental Mutation 'IGL02666:Nup88'
ID302757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup88
Ensembl Gene ENSMUSG00000040667
Gene Namenucleoporin 88
SynonymsNup84, Prei2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL02666
Quality Score
Status
Chromosome11
Chromosomal Location70943058-70969973 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to T at 70943869 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000035283] [ENSMUST00000076270] [ENSMUST00000081362] [ENSMUST00000100928] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000108533] [ENSMUST00000177731] [ENSMUST00000178245]
Predicted Effect probably benign
Transcript: ENSMUST00000035283
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076270
SMART Domains Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.8e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 596 7.6e-39 PFAM
Pfam:Rab5-bind 612 807 5.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081362
SMART Domains Protein: ENSMUSP00000080102
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 198 2.4e-45 PFAM
low complexity region 274 287 N/A INTRINSIC
Pfam:Rabaptin 421 556 7.1e-39 PFAM
Pfam:Rab5-bind 572 767 5.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100928
SMART Domains Protein: ENSMUSP00000098488
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.3e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 561 2.9e-27 PFAM
Pfam:Rab5-bind 577 772 5.3e-51 PFAM
low complexity region 803 817 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108530
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108531
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108533
SMART Domains Protein: ENSMUSP00000104173
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 9 495 2.8e-301 PFAM
Pfam:Rab5-bind 533 841 2e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148168
Predicted Effect probably benign
Transcript: ENSMUST00000177731
SMART Domains Protein: ENSMUSP00000136069
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 5 111 6.2e-47 PFAM
low complexity region 230 243 N/A INTRINSIC
Pfam:Rabaptin 377 512 5.3e-39 PFAM
Pfam:Rab5-bind 528 723 1.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178245
SMART Domains Protein: ENSMUSP00000137267
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 46 152 8.2e-47 PFAM
low complexity region 271 284 N/A INTRINSIC
Pfam:Rabaptin 418 553 7e-39 PFAM
Pfam:Rab5-bind 569 764 5.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178253
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 noncoding transcript Het
Abca15 G A 7: 120,335,208 V136M probably damaging Het
Abhd3 A G 18: 10,645,148 I382T probably benign Het
Cux1 C A 5: 136,275,315 E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 I155V probably damaging Het
Ddx24 T C 12: 103,424,055 T226A possibly damaging Het
Diexf G A 1: 193,107,596 Q752* probably null Het
Dld T C 12: 31,332,409 N465S probably null Het
Dnmbp A G 19: 43,854,127 probably benign Het
Dock9 T C 14: 121,580,699 H1580R probably benign Het
Drd3 C A 16: 43,816,956 probably benign Het
Gabrb2 G T 11: 42,529,495 probably null Het
Gbp9 T C 5: 105,094,275 probably null Het
Inhba A T 13: 16,027,079 I409F possibly damaging Het
Iqgap2 T C 13: 95,628,056 N1560S probably damaging Het
Itsn1 A G 16: 91,820,718 probably benign Het
Kat6b T C 14: 21,628,870 F434L probably damaging Het
Klra1 A G 6: 130,364,315 C232R probably damaging Het
Krt18 T A 15: 102,029,867 I175N probably damaging Het
Lck A G 4: 129,556,419 V178A probably damaging Het
Mroh4 C A 15: 74,609,775 G737V probably benign Het
Mug2 A C 6: 122,081,326 L1282F probably damaging Het
Myo9a A G 9: 59,924,904 N2572S probably benign Het
Nxph3 G T 11: 95,511,008 H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 H308N probably benign Het
Orm2 A G 4: 63,365,733 T198A possibly damaging Het
Pom121 T C 5: 135,386,832 I397V unknown Het
Prex1 C A 2: 166,572,989 E1313D probably benign Het
Prkg2 T A 5: 98,997,519 probably benign Het
Prl2a1 A T 13: 27,806,327 K86N possibly damaging Het
Ptpro G A 6: 137,378,059 S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 I1100F probably benign Het
Ryr1 C A 7: 29,019,763 M4406I unknown Het
Sdf4 T A 4: 156,008,824 Y204* probably null Het
Serinc1 A T 10: 57,523,993 probably null Het
Slc39a5 C T 10: 128,398,455 R193H probably damaging Het
Smad9 A G 3: 54,782,467 K36R probably damaging Het
Spam1 T A 6: 24,796,124 L25I possibly damaging Het
Stab2 A T 10: 86,850,902 S809R possibly damaging Het
Szt2 G A 4: 118,374,055 R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 probably benign Het
Tfap2d A C 1: 19,104,755 D144A probably benign Het
Tmprss11d A T 5: 86,331,193 V117D probably damaging Het
Tnxb A G 17: 34,684,939 D1141G probably benign Het
Traf6 A T 2: 101,697,167 T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 probably benign Het
Vmn1r73 C A 7: 11,756,938 P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 I784T probably benign Het
Zfp420 A G 7: 29,874,370 D5G probably benign Het
Other mutations in Nup88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Nup88 APN 11 70954654 splice site probably benign
IGL02219:Nup88 APN 11 70969692 missense probably benign 0.45
IGL02433:Nup88 APN 11 70969888 missense probably benign 0.13
IGL02669:Nup88 APN 11 70956284 missense probably damaging 0.99
IGL02951:Nup88 APN 11 70944872 missense possibly damaging 0.94
unholy UTSW 11 70956192 missense probably damaging 1.00
PIT4515001:Nup88 UTSW 11 70944721 missense probably benign 0.00
R0445:Nup88 UTSW 11 70947729 missense probably benign 0.44
R0737:Nup88 UTSW 11 70969950 start codon destroyed probably null 0.90
R0920:Nup88 UTSW 11 70956320 missense possibly damaging 0.80
R1337:Nup88 UTSW 11 70944890 missense probably damaging 1.00
R2208:Nup88 UTSW 11 70965719 missense probably damaging 1.00
R3735:Nup88 UTSW 11 70956192 missense probably damaging 1.00
R4577:Nup88 UTSW 11 70969717 missense probably damaging 0.96
R4600:Nup88 UTSW 11 70969696 nonsense probably null
R4663:Nup88 UTSW 11 70965846 splice site probably null
R4812:Nup88 UTSW 11 70965726 missense probably damaging 1.00
R4824:Nup88 UTSW 11 70961624 missense probably benign 0.10
R5333:Nup88 UTSW 11 70945016 intron probably benign
R5338:Nup88 UTSW 11 70944908 missense probably damaging 0.98
R5443:Nup88 UTSW 11 70958430 nonsense probably null
R5605:Nup88 UTSW 11 70944070 intron probably benign
R5869:Nup88 UTSW 11 70969671 missense probably benign 0.01
R6287:Nup88 UTSW 11 70965755 missense probably benign 0.39
R6364:Nup88 UTSW 11 70947786 missense probably benign
R6409:Nup88 UTSW 11 70944972 missense probably null 0.71
R6555:Nup88 UTSW 11 70944180 missense possibly damaging 0.62
R7203:Nup88 UTSW 11 70945254 missense probably benign 0.20
Posted On2015-04-16