Incidental Mutation 'IGL02490:Nup98'
ID295588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup98
Ensembl Gene ENSMUSG00000063550
Gene Namenucleoporin 98
SynonymsNup96
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02490
Quality Score
Status
Chromosome7
Chromosomal Location102119398-102210176 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102152366 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 784 (V784A)
Ref Sequence ENSEMBL: ENSMUSP00000147454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070165] [ENSMUST00000210682] [ENSMUST00000211005] [ENSMUST00000211022] [ENSMUST00000211235]
Predicted Effect probably damaging
Transcript: ENSMUST00000070165
AA Change: V801A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550
AA Change: V801A

DomainStartEndE-ValueType
Pfam:Nucleoporin_FG 3 88 4.6e-4 PFAM
Pfam:Nucleoporin_FG 69 170 3.4e-6 PFAM
Pfam:Nucleoporin_FG 210 307 6.1e-5 PFAM
Pfam:Nucleoporin_FG 246 332 2.2e-7 PFAM
Pfam:Nucleoporin_FG 266 359 1.2e-7 PFAM
Pfam:Nucleoporin_FG 309 425 1.8e-2 PFAM
Pfam:Nucleoporin_FG 398 497 2.2e-2 PFAM
low complexity region 594 610 N/A INTRINSIC
low complexity region 673 684 N/A INTRINSIC
Pfam:Nucleoporin2 740 880 5.4e-45 PFAM
PDB:1KO6|D 881 925 1e-16 PDB
low complexity region 926 935 N/A INTRINSIC
low complexity region 1033 1042 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210682
AA Change: V801A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211005
AA Change: V801A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211022
AA Change: V784A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211235
AA Change: V784A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000211764
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,101,577 noncoding transcript Het
Adam5 A T 8: 24,781,704 Y562* probably null Het
Akr1d1 T C 6: 37,558,488 V269A probably damaging Het
Anks4b A G 7: 120,174,018 T34A probably damaging Het
Arhgef40 A G 14: 51,989,195 N232S probably damaging Het
Cdc40 C T 10: 40,841,771 V379I probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh13 A G 8: 119,095,323 D307G probably damaging Het
Ces1h A G 8: 93,356,999 probably null Het
Chchd6 T A 6: 89,384,674 H249L possibly damaging Het
Cul1 T C 6: 47,514,886 V392A probably damaging Het
Cwc15 A T 9: 14,502,024 D34V probably damaging Het
Cyp2c39 T C 19: 39,539,002 I264T probably damaging Het
Dapk1 A G 13: 60,749,334 D789G probably damaging Het
Dcdc2a T A 13: 25,107,652 Y207N probably damaging Het
Efcab1 T A 16: 14,916,946 V60E probably benign Het
Flt3 T A 5: 147,331,296 N960Y probably damaging Het
Fmn1 C T 2: 113,529,472 probably benign Het
Foxm1 T A 6: 128,373,351 C400* probably null Het
Ftmt A C 18: 52,331,688 R25S probably benign Het
Guca1b T C 17: 47,389,265 probably benign Het
Hectd4 A T 5: 121,318,613 K680N possibly damaging Het
Hephl1 C A 9: 15,053,685 R1138L probably benign Het
Il1rl2 T A 1: 40,356,812 probably benign Het
Ints2 A T 11: 86,233,183 I593K possibly damaging Het
Iqcg T A 16: 33,035,567 K213* probably null Het
Kif1b T A 4: 149,204,208 S1259C probably benign Het
Klc1 C T 12: 111,781,776 T371M possibly damaging Het
Loxl4 T C 19: 42,604,830 T301A probably benign Het
Lrrc40 T C 3: 158,062,699 L497P probably damaging Het
Masp2 C T 4: 148,607,943 R298W possibly damaging Het
Myo5a A T 9: 75,136,455 Y242F probably damaging Het
Olfr1138 T C 2: 87,737,955 Y123C probably damaging Het
Osbpl1a G T 18: 12,882,284 probably benign Het
Pcdh10 A G 3: 45,380,487 Y412C probably damaging Het
Pfkfb2 T A 1: 130,700,852 Y339F probably damaging Het
Plcb2 T C 2: 118,719,760 N172D probably damaging Het
Plec T C 15: 76,189,263 Y517C probably damaging Het
Plod2 G T 9: 92,586,842 A207S probably benign Het
Plxdc1 A T 11: 97,954,778 D229E probably benign Het
Ppp3cb A G 14: 20,531,658 probably null Het
Procr T C 2: 155,753,432 L52P probably damaging Het
Psme2b G T 11: 48,946,119 probably benign Het
Rgs22 G A 15: 36,054,847 A727V probably damaging Het
Rock2 T A 12: 16,948,563 W277R probably damaging Het
Rpl26 A G 11: 68,904,390 D112G probably damaging Het
Rxfp1 C A 3: 79,652,167 probably null Het
Sdr39u1 G A 14: 55,898,341 P98L probably damaging Het
Sgms1 T C 19: 32,160,143 K8E probably damaging Het
Stk31 T C 6: 49,417,535 V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,560,131 E79A probably benign Het
Ttll6 A T 11: 96,156,720 D715V possibly damaging Het
Ush2a T C 1: 188,810,364 S3376P probably damaging Het
Vmn2r109 T A 17: 20,540,984 T704S possibly damaging Het
Zfp27 T A 7: 29,894,935 H535L possibly damaging Het
Zfp609 A T 9: 65,703,968 V571D possibly damaging Het
Zfp874a A T 13: 67,442,700 Y288* probably null Het
Zfp993 T C 4: 146,657,617 S133P probably damaging Het
Other mutations in Nup98
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Nup98 APN 7 102194987 missense probably damaging 1.00
IGL00789:Nup98 APN 7 102153971 missense probably benign
IGL00798:Nup98 APN 7 102147204 missense probably damaging 1.00
IGL01562:Nup98 APN 7 102185918 missense probably damaging 0.99
IGL01942:Nup98 APN 7 102194711 missense probably damaging 1.00
IGL02109:Nup98 APN 7 102183486 missense probably benign 0.37
IGL03184:Nup98 APN 7 102183545 missense probably damaging 0.99
PIT4519001:Nup98 UTSW 7 102134964 missense probably benign 0.00
R0040:Nup98 UTSW 7 102192034 missense probably damaging 1.00
R0133:Nup98 UTSW 7 102139652 critical splice acceptor site probably null
R0309:Nup98 UTSW 7 102152428 missense probably null
R0471:Nup98 UTSW 7 102138797 missense probably benign 0.13
R0538:Nup98 UTSW 7 102186685 missense probably damaging 1.00
R0650:Nup98 UTSW 7 102152453 missense probably damaging 1.00
R0730:Nup98 UTSW 7 102160716 missense probably damaging 1.00
R0881:Nup98 UTSW 7 102160716 missense probably damaging 1.00
R0900:Nup98 UTSW 7 102160716 missense probably damaging 1.00
R1120:Nup98 UTSW 7 102160716 missense probably damaging 1.00
R1159:Nup98 UTSW 7 102160716 missense probably damaging 1.00
R1469:Nup98 UTSW 7 102138801 missense probably benign 0.00
R1469:Nup98 UTSW 7 102138801 missense probably benign 0.00
R1470:Nup98 UTSW 7 102147306 missense probably damaging 0.98
R1470:Nup98 UTSW 7 102147306 missense probably damaging 0.98
R1545:Nup98 UTSW 7 102134880 missense possibly damaging 0.77
R1775:Nup98 UTSW 7 102134937 missense probably benign 0.03
R1889:Nup98 UTSW 7 102160716 missense probably damaging 1.00
R2080:Nup98 UTSW 7 102180424 missense probably damaging 0.96
R3423:Nup98 UTSW 7 102184877 missense probably benign 0.03
R4361:Nup98 UTSW 7 102145714 missense probably damaging 1.00
R4678:Nup98 UTSW 7 102184831 missense probably damaging 1.00
R4864:Nup98 UTSW 7 102153196 missense possibly damaging 0.94
R4910:Nup98 UTSW 7 102195800 missense unknown
R4924:Nup98 UTSW 7 102134978 missense probably damaging 1.00
R5068:Nup98 UTSW 7 102145655 missense probably benign 0.00
R5069:Nup98 UTSW 7 102145655 missense probably benign 0.00
R5233:Nup98 UTSW 7 102195822 missense unknown
R5779:Nup98 UTSW 7 102152361 missense probably benign
R5922:Nup98 UTSW 7 102154017 missense probably damaging 1.00
R6010:Nup98 UTSW 7 102180429 missense probably damaging 1.00
R6039:Nup98 UTSW 7 102134795 missense probably benign
R6039:Nup98 UTSW 7 102134795 missense probably benign
R6343:Nup98 UTSW 7 102194750 missense possibly damaging 0.90
R6364:Nup98 UTSW 7 102176315 missense probably damaging 1.00
R6462:Nup98 UTSW 7 102195016 missense probably benign 0.03
R6577:Nup98 UTSW 7 102128846 intron probably null
R6900:Nup98 UTSW 7 102185962 missense probably damaging 1.00
R7205:Nup98 UTSW 7 102195041 missense unknown
R7235:Nup98 UTSW 7 102125284 missense probably damaging 1.00
R7307:Nup98 UTSW 7 102134795 missense probably benign
T0970:Nup98 UTSW 7 102186752 unclassified probably benign
X0054:Nup98 UTSW 7 102147208 missense probably damaging 1.00
Posted On2015-04-16