Incidental Mutation 'R0471:Nup98'
ID 46756
Institutional Source Beutler Lab
Gene Symbol Nup98
Ensembl Gene ENSMUSG00000063550
Gene Name nucleoporin 98
Synonyms Nup96
MMRRC Submission 038671-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0471 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101768607-101859359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101788004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1022 (V1022D)
Ref Sequence ENSEMBL: ENSMUSP00000068530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070165] [ENSMUST00000210682] [ENSMUST00000211235]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070165
AA Change: V1022D

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550
AA Change: V1022D

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 benign
Transcript: ENSMUST00000210682
AA Change: V1022D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211235
AA Change: V1005D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A probably damaging Het
Other mutations in Nup98
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Nup98 APN 7 101,844,194 (GRCm39) missense probably damaging 1.00
IGL00789:Nup98 APN 7 101,803,178 (GRCm39) missense probably benign
IGL00798:Nup98 APN 7 101,796,411 (GRCm39) missense probably damaging 1.00
IGL01562:Nup98 APN 7 101,835,125 (GRCm39) missense probably damaging 0.99
IGL01942:Nup98 APN 7 101,843,918 (GRCm39) missense probably damaging 1.00
IGL02109:Nup98 APN 7 101,832,693 (GRCm39) missense probably benign 0.37
IGL02490:Nup98 APN 7 101,801,573 (GRCm39) missense probably damaging 1.00
IGL03184:Nup98 APN 7 101,832,752 (GRCm39) missense probably damaging 0.99
PIT4519001:Nup98 UTSW 7 101,784,171 (GRCm39) missense probably benign 0.00
R0040:Nup98 UTSW 7 101,841,241 (GRCm39) missense probably damaging 1.00
R0133:Nup98 UTSW 7 101,788,859 (GRCm39) critical splice acceptor site probably null
R0309:Nup98 UTSW 7 101,801,635 (GRCm39) missense probably null
R0538:Nup98 UTSW 7 101,835,892 (GRCm39) missense probably damaging 1.00
R0650:Nup98 UTSW 7 101,801,660 (GRCm39) missense probably damaging 1.00
R0730:Nup98 UTSW 7 101,809,923 (GRCm39) missense probably damaging 1.00
R0881:Nup98 UTSW 7 101,809,923 (GRCm39) missense probably damaging 1.00
R0900:Nup98 UTSW 7 101,809,923 (GRCm39) missense probably damaging 1.00
R1120:Nup98 UTSW 7 101,809,923 (GRCm39) missense probably damaging 1.00
R1159:Nup98 UTSW 7 101,809,923 (GRCm39) missense probably damaging 1.00
R1469:Nup98 UTSW 7 101,788,008 (GRCm39) missense probably benign 0.00
R1469:Nup98 UTSW 7 101,788,008 (GRCm39) missense probably benign 0.00
R1470:Nup98 UTSW 7 101,796,513 (GRCm39) missense probably damaging 0.98
R1470:Nup98 UTSW 7 101,796,513 (GRCm39) missense probably damaging 0.98
R1545:Nup98 UTSW 7 101,784,087 (GRCm39) missense possibly damaging 0.77
R1775:Nup98 UTSW 7 101,784,144 (GRCm39) missense probably benign 0.03
R1889:Nup98 UTSW 7 101,809,923 (GRCm39) missense probably damaging 1.00
R2080:Nup98 UTSW 7 101,829,631 (GRCm39) missense probably damaging 0.96
R3423:Nup98 UTSW 7 101,834,084 (GRCm39) missense probably benign 0.03
R4361:Nup98 UTSW 7 101,794,921 (GRCm39) missense probably damaging 1.00
R4678:Nup98 UTSW 7 101,834,038 (GRCm39) missense probably damaging 1.00
R4864:Nup98 UTSW 7 101,802,403 (GRCm39) missense possibly damaging 0.94
R4910:Nup98 UTSW 7 101,845,007 (GRCm39) missense unknown
R4924:Nup98 UTSW 7 101,784,185 (GRCm39) missense probably damaging 1.00
R5068:Nup98 UTSW 7 101,794,862 (GRCm39) missense probably benign 0.00
R5069:Nup98 UTSW 7 101,794,862 (GRCm39) missense probably benign 0.00
R5233:Nup98 UTSW 7 101,845,029 (GRCm39) missense unknown
R5779:Nup98 UTSW 7 101,801,568 (GRCm39) missense probably benign
R5922:Nup98 UTSW 7 101,803,224 (GRCm39) missense probably damaging 1.00
R6010:Nup98 UTSW 7 101,829,636 (GRCm39) missense probably damaging 1.00
R6039:Nup98 UTSW 7 101,784,002 (GRCm39) missense probably benign
R6039:Nup98 UTSW 7 101,784,002 (GRCm39) missense probably benign
R6343:Nup98 UTSW 7 101,843,957 (GRCm39) missense possibly damaging 0.90
R6364:Nup98 UTSW 7 101,825,522 (GRCm39) missense probably damaging 1.00
R6462:Nup98 UTSW 7 101,844,223 (GRCm39) missense probably benign 0.03
R6577:Nup98 UTSW 7 101,778,053 (GRCm39) splice site probably null
R6900:Nup98 UTSW 7 101,835,169 (GRCm39) missense probably damaging 1.00
R7205:Nup98 UTSW 7 101,844,248 (GRCm39) missense unknown
R7218:Nup98 UTSW 7 101,841,107 (GRCm39) splice site probably null
R7235:Nup98 UTSW 7 101,774,491 (GRCm39) missense probably damaging 1.00
R7307:Nup98 UTSW 7 101,784,002 (GRCm39) missense probably benign
R7402:Nup98 UTSW 7 101,784,144 (GRCm39) missense probably benign 0.00
R7427:Nup98 UTSW 7 101,784,208 (GRCm39) splice site probably null
R7428:Nup98 UTSW 7 101,784,208 (GRCm39) splice site probably null
R7584:Nup98 UTSW 7 101,825,596 (GRCm39) missense probably benign 0.02
R7646:Nup98 UTSW 7 101,803,242 (GRCm39) missense probably benign 0.01
R7648:Nup98 UTSW 7 101,773,404 (GRCm39) missense possibly damaging 0.94
R7742:Nup98 UTSW 7 101,802,464 (GRCm39) splice site probably null
R7827:Nup98 UTSW 7 101,773,569 (GRCm39) missense probably benign 0.10
R7884:Nup98 UTSW 7 101,825,556 (GRCm39) missense probably benign 0.12
R7943:Nup98 UTSW 7 101,844,029 (GRCm39) missense probably benign 0.10
R8034:Nup98 UTSW 7 101,794,930 (GRCm39) critical splice acceptor site probably null
R8952:Nup98 UTSW 7 101,835,859 (GRCm39) missense probably damaging 1.00
R9060:Nup98 UTSW 7 101,783,895 (GRCm39) missense probably damaging 1.00
R9099:Nup98 UTSW 7 101,844,173 (GRCm39) missense probably damaging 0.98
R9146:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9148:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9223:Nup98 UTSW 7 101,834,167 (GRCm39) missense possibly damaging 0.82
R9246:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9249:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9272:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9274:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9283:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9326:Nup98 UTSW 7 101,788,037 (GRCm39) missense probably benign 0.02
R9466:Nup98 UTSW 7 101,818,611 (GRCm39) missense probably benign 0.05
R9492:Nup98 UTSW 7 101,778,252 (GRCm39) missense probably benign 0.11
R9661:Nup98 UTSW 7 101,782,019 (GRCm39) nonsense probably null
T0970:Nup98 UTSW 7 101,835,959 (GRCm39) unclassified probably benign
X0054:Nup98 UTSW 7 101,796,415 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTTCTGCTAAAGAGATCCATTCAGC -3'
(R):5'- CTCAGCAACGTTTGTAACTTTACTGCC -3'

Sequencing Primer
(F):5'- GAGATCCATTCAGCTTAGAAGAAAC -3'
(R):5'- ATACTTGTTCTGGGCACAGAC -3'
Posted On 2013-06-11