Incidental Mutation 'R9283:Nup98'
ID 703747
Institutional Source Beutler Lab
Gene Symbol Nup98
Ensembl Gene ENSMUSG00000063550
Gene Name nucleoporin 98
Synonyms Nup96
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 101768607-101859359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101788037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1011 (R1011L)
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: R1011L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550
AA Change: R1011L

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: R1011L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000211235
AA Change: R994L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0862 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,258,499 (GRCm39) V47A probably benign Het
Aamdc A G 7: 97,199,842 (GRCm39) V140A probably benign Het
Acsm3 T A 7: 119,373,115 (GRCm39) M206K possibly damaging Het
Adprhl1 T C 8: 13,273,540 (GRCm39) T1073A probably benign Het
Aoc1 A G 6: 48,882,261 (GRCm39) I46V probably benign Het
Ap4b1 A G 3: 103,722,259 (GRCm39) S246G probably damaging Het
Bach1 A G 16: 87,516,211 (GRCm39) T251A probably benign Het
Cry2 A G 2: 92,244,249 (GRCm39) L308P probably damaging Het
Daam1 G T 12: 72,035,696 (GRCm39) G964C probably damaging Het
Ddx10 T G 9: 53,146,656 (GRCm39) N189H probably benign Het
Dlg4 T A 11: 69,922,617 (GRCm39) C241* probably null Het
Dpy19l1 G T 9: 24,332,412 (GRCm39) Y489* probably null Het
E2f4 C A 8: 106,024,395 (GRCm39) A8E probably benign Het
Gm3486 T C 14: 41,210,268 (GRCm39) N71S possibly damaging Het
Ighv1-23 A G 12: 114,728,225 (GRCm39) W66R probably damaging Het
Kcnh5 A G 12: 75,023,307 (GRCm39) L587P probably damaging Het
Kctd16 T C 18: 40,392,233 (GRCm39) Y274H possibly damaging Het
Kif16b T A 2: 142,554,900 (GRCm39) M633L probably benign Het
Kif23 T C 9: 61,852,651 (GRCm39) N21S probably benign Het
Lamtor3 C T 3: 137,633,123 (GRCm39) R85C probably benign Het
Lin9 A T 1: 180,493,493 (GRCm39) T240S probably damaging Het
Mtus1 C A 8: 41,536,519 (GRCm39) G399V probably benign Het
Mup8 C T 4: 60,221,903 (GRCm39) V77I probably benign Het
Myo5b C T 18: 74,777,149 (GRCm39) A403V probably benign Het
Naf1 C A 8: 67,313,503 (GRCm39) A162E unknown Het
Nat10 G A 2: 103,556,092 (GRCm39) Q910* probably null Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npas2 A G 1: 39,326,689 (GRCm39) K58R probably damaging Het
Nsd2 A T 5: 34,001,058 (GRCm39) I192F probably benign Het
Ophn1 G A X: 97,622,145 (GRCm39) T668M probably benign Het
Or10a3 C T 7: 108,480,289 (GRCm39) A175T probably benign Het
Or2d4 G A 7: 106,543,806 (GRCm39) T134I probably benign Het
Or5b105 C A 19: 13,079,821 (GRCm39) M282I probably damaging Het
Or5b12b T A 19: 12,861,961 (GRCm39) C239S probably damaging Het
Or7e177 A G 9: 20,212,419 (GRCm39) K309E possibly damaging Het
Pcdh17 C T 14: 84,685,593 (GRCm39) P687S possibly damaging Het
Pdpr C T 8: 111,856,268 (GRCm39) R664W possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pfas A T 11: 68,884,708 (GRCm39) V498E probably damaging Het
Pfpl A T 19: 12,406,220 (GRCm39) Y157F probably damaging Het
Piezo2 A T 18: 63,157,637 (GRCm39) F2358I probably damaging Het
Pip5k1b T C 19: 24,337,376 (GRCm39) Y304C probably damaging Het
Pls1 G A 9: 95,655,642 (GRCm39) A370V probably benign Het
Polm A T 11: 5,779,050 (GRCm39) L490H probably damaging Het
Prdm5 T C 6: 65,858,060 (GRCm39) C375R probably damaging Het
Scmh1 A T 4: 120,319,337 (GRCm39) M21L probably benign Het
Sec16a C A 2: 26,313,904 (GRCm39) R449S Het
Sin3a C T 9: 57,002,717 (GRCm39) T203I probably damaging Het
Six5 A G 7: 18,829,148 (GRCm39) E196G probably damaging Het
Skint8 T C 4: 111,785,644 (GRCm39) V30A probably damaging Het
Slc2a12 G A 10: 22,540,511 (GRCm39) G122E probably damaging Het
Smim14 A G 5: 65,625,780 (GRCm39) C11R probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tanc1 T C 2: 59,630,174 (GRCm39) I718T probably damaging Het
Tead4 A G 6: 128,205,592 (GRCm39) L370P probably damaging Het
Tnrc6c A G 11: 117,591,630 (GRCm39) K15E unknown Het
Trim55 T G 3: 19,699,612 (GRCm39) probably null Het
Trpm1 A T 7: 63,873,623 (GRCm39) N510I probably benign Het
Trps1 A G 15: 50,694,447 (GRCm39) V616A probably damaging Het
Usp42 A T 5: 143,705,264 (GRCm39) V405E probably damaging Het
Zfp11 A T 5: 129,734,748 (GRCm39) S238T probably damaging Het
Zfp608 T C 18: 55,030,913 (GRCm39) H1009R possibly 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
R0471:Nup98 UTSW 7 101,788,004 (GRCm39) missense probably benign 0.13
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
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'- TCTGCTAAAGAGATCCATTCAGC -3'
(R):5'- ATACAGGATAAGTACTGTGTTGCTC -3'

Sequencing Primer
(F):5'- GAGATCCATTCAGCTTAGAAGAAAC -3'
(R):5'- AATGTTATACTTGTTCTGGGCACAG -3'
Posted On 2022-03-25