Incidental Mutation 'IGL02669:Nup88'
ID 302863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup88
Ensembl Gene ENSMUSG00000040667
Gene Name nucleoporin 88
Synonyms Nup84, Prei2
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02669
Quality Score
Status
Chromosome 11
Chromosomal Location 70833884-70860799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70847110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 300 (M300T)
Ref Sequence ENSEMBL: ENSMUSP00000104171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035283] [ENSMUST00000108530] [ENSMUST00000108531]
AlphaFold Q8CEC0
Predicted Effect probably damaging
Transcript: ENSMUST00000035283
AA Change: M300T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: M300T

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108530
AA Change: M300T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: M300T

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108531
AA Change: M300T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: M300T

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178369
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T A 16: 19,702,505 (GRCm39) noncoding transcript Het
Acap1 G A 11: 69,785,421 (GRCm39) probably benign Het
Adam7 T C 14: 68,745,343 (GRCm39) Y627C probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Aoc1l2 A G 6: 48,908,407 (GRCm39) Y469C probably damaging Het
Bace2 T C 16: 97,238,093 (GRCm39) *515R probably null Het
Baiap3 C T 17: 25,463,322 (GRCm39) V958M probably damaging Het
Brms1l A T 12: 55,888,401 (GRCm39) D63V probably damaging Het
Cnksr1 A T 4: 133,957,774 (GRCm39) I435N probably damaging Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Cpne6 A G 14: 55,751,283 (GRCm39) N201S probably benign Het
Dnajc12 A G 10: 63,233,071 (GRCm39) S71G probably damaging Het
Dpp3 A T 19: 4,973,710 (GRCm39) probably null Het
E2f3 A G 13: 30,100,974 (GRCm39) S239P probably benign Het
Eif3e T A 15: 43,146,088 (GRCm39) M1L probably benign Het
Erap1 A G 13: 74,823,987 (GRCm39) T867A probably benign Het
Erlin1 G T 19: 44,027,658 (GRCm39) A260E probably damaging Het
Esrp1 A G 4: 11,386,324 (GRCm39) V38A possibly damaging Het
Foxn1 T C 11: 78,261,986 (GRCm39) R128G probably damaging Het
Gnb3 A G 6: 124,814,688 (GRCm39) L70P probably benign Het
Gon4l T C 3: 88,802,806 (GRCm39) V1139A probably damaging Het
Gpt2 G T 8: 86,249,908 (GRCm39) M463I probably benign Het
Gtpbp3 C A 8: 71,943,546 (GRCm39) A201D probably damaging Het
Jaml A C 9: 45,015,489 (GRCm39) K331T possibly damaging Het
Kntc1 G A 5: 123,893,727 (GRCm39) probably benign Het
Ksr2 A G 5: 117,693,446 (GRCm39) K298R probably damaging Het
Mfge8 T C 7: 78,795,429 (GRCm39) D46G probably benign Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Or4c118 T A 2: 88,974,564 (GRCm39) K268* probably null Het
Or4k48 A T 2: 111,476,236 (GRCm39) Y35* probably null Het
Or52b4 A G 7: 102,184,868 (GRCm39) M305V probably benign Het
Prdm1 A T 10: 44,315,880 (GRCm39) M752K probably benign Het
Prl3b1 A T 13: 27,429,795 (GRCm39) M78L probably benign Het
Ralgps2 T C 1: 156,660,268 (GRCm39) E268G probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Slc4a5 A G 6: 83,240,525 (GRCm39) D279G possibly damaging Het
Tanc1 T A 2: 59,630,330 (GRCm39) I770K probably damaging Het
Tbl2 G A 5: 135,181,852 (GRCm39) R64H probably damaging Het
Tg T A 15: 66,620,575 (GRCm39) probably benign Het
Tmprss13 A T 9: 45,243,824 (GRCm39) I187F probably benign Het
Tubb3 T C 8: 124,147,856 (GRCm39) L263P probably damaging Het
Vmn2r109 T G 17: 20,774,518 (GRCm39) D279A possibly damaging Het
Vps33b A G 7: 79,925,786 (GRCm39) probably benign Het
Yeats2 A G 16: 20,005,033 (GRCm39) S338G probably benign Het
Zfp142 T C 1: 74,610,432 (GRCm39) Q1121R probably benign Het
Zic1 G T 9: 91,246,486 (GRCm39) H195Q possibly damaging Het
Other mutations in Nup88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Nup88 APN 11 70,845,480 (GRCm39) splice site probably benign
IGL02219:Nup88 APN 11 70,860,518 (GRCm39) missense probably benign 0.45
IGL02433:Nup88 APN 11 70,860,714 (GRCm39) missense probably benign 0.13
IGL02666:Nup88 APN 11 70,834,695 (GRCm39) intron probably benign
IGL02951:Nup88 APN 11 70,835,698 (GRCm39) missense possibly damaging 0.94
unholy UTSW 11 70,847,018 (GRCm39) missense probably damaging 1.00
PIT4515001:Nup88 UTSW 11 70,835,547 (GRCm39) missense probably benign 0.00
R0445:Nup88 UTSW 11 70,838,555 (GRCm39) missense probably benign 0.44
R0737:Nup88 UTSW 11 70,860,776 (GRCm39) start codon destroyed probably null 0.90
R0920:Nup88 UTSW 11 70,847,146 (GRCm39) missense possibly damaging 0.80
R1337:Nup88 UTSW 11 70,835,716 (GRCm39) missense probably damaging 1.00
R2208:Nup88 UTSW 11 70,856,545 (GRCm39) missense probably damaging 1.00
R3735:Nup88 UTSW 11 70,847,018 (GRCm39) missense probably damaging 1.00
R4577:Nup88 UTSW 11 70,860,543 (GRCm39) missense probably damaging 0.96
R4600:Nup88 UTSW 11 70,860,522 (GRCm39) nonsense probably null
R4663:Nup88 UTSW 11 70,856,672 (GRCm39) splice site probably null
R4812:Nup88 UTSW 11 70,856,552 (GRCm39) missense probably damaging 1.00
R4824:Nup88 UTSW 11 70,852,450 (GRCm39) missense probably benign 0.10
R5333:Nup88 UTSW 11 70,835,842 (GRCm39) intron probably benign
R5338:Nup88 UTSW 11 70,835,734 (GRCm39) missense probably damaging 0.98
R5443:Nup88 UTSW 11 70,849,256 (GRCm39) nonsense probably null
R5605:Nup88 UTSW 11 70,834,896 (GRCm39) intron probably benign
R5869:Nup88 UTSW 11 70,860,497 (GRCm39) missense probably benign
R6287:Nup88 UTSW 11 70,856,581 (GRCm39) missense probably benign 0.39
R6364:Nup88 UTSW 11 70,838,612 (GRCm39) missense probably benign
R6409:Nup88 UTSW 11 70,835,798 (GRCm39) missense probably null 0.71
R6555:Nup88 UTSW 11 70,835,006 (GRCm39) missense possibly damaging 0.62
R7203:Nup88 UTSW 11 70,836,080 (GRCm39) missense probably benign 0.20
R7606:Nup88 UTSW 11 70,852,441 (GRCm39) missense possibly damaging 0.89
R7620:Nup88 UTSW 11 70,860,605 (GRCm39) missense probably benign 0.00
R7681:Nup88 UTSW 11 70,860,711 (GRCm39) missense probably benign 0.05
R8283:Nup88 UTSW 11 70,849,166 (GRCm39) missense probably benign
R8379:Nup88 UTSW 11 70,860,607 (GRCm39) missense possibly damaging 0.72
R8684:Nup88 UTSW 11 70,860,687 (GRCm39) missense probably benign
R8806:Nup88 UTSW 11 70,834,941 (GRCm39) missense probably benign 0.01
R9368:Nup88 UTSW 11 70,858,756 (GRCm39) missense probably damaging 0.99
R9748:Nup88 UTSW 11 70,860,497 (GRCm39) missense probably benign
Posted On 2015-04-16