Incidental Mutation 'R7427:Nup98'
ID 601430
Institutional Source Beutler Lab
Gene Symbol Nup98
Ensembl Gene ENSMUSG00000063550
Gene Name nucleoporin 98
Synonyms Nup96
MMRRC Submission 045505-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7427 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101768607-101859359 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 101784208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070165] [ENSMUST00000070165] [ENSMUST00000210682] [ENSMUST00000210682] [ENSMUST00000211235] [ENSMUST00000211235]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000070165
SMART Domains Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550

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 null
Transcript: ENSMUST00000070165
SMART Domains Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550

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 null
Transcript: ENSMUST00000210682
Predicted Effect probably null
Transcript: ENSMUST00000210682
Predicted Effect probably null
Transcript: ENSMUST00000211235
Predicted Effect probably null
Transcript: ENSMUST00000211235
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 T A 15: 76,478,585 (GRCm39) C318S possibly damaging Het
Aspm T A 1: 139,385,354 (GRCm39) C333S probably benign Het
B3gnt4 A G 5: 123,648,794 (GRCm39) N53S probably damaging Het
Bpifb5 G A 2: 154,067,042 (GRCm39) M98I probably benign Het
Cacna2d3 A G 14: 28,786,232 (GRCm39) M585T probably damaging Het
Cbarp T C 10: 79,967,138 (GRCm39) D701G probably damaging Het
Ccn2 T G 10: 24,473,397 (GRCm39) M312R probably damaging Het
Cntrl T A 2: 35,060,546 (GRCm39) W1913R probably benign Het
Cry2 T C 2: 92,243,392 (GRCm39) D483G possibly damaging Het
Csmd1 A G 8: 16,073,864 (GRCm39) F2044L possibly damaging Het
Cxcl16 A G 11: 70,349,630 (GRCm39) V78A possibly damaging Het
Cxcr6 A T 9: 123,639,305 (GRCm39) Y109F probably benign Het
Cyb5b A G 8: 107,897,048 (GRCm39) D106G probably benign Het
D630036H23Rik T C 12: 36,431,537 (GRCm39) R154G unknown Het
Dnah9 T C 11: 65,846,045 (GRCm39) T2998A probably benign Het
Focad T C 4: 88,286,988 (GRCm39) S1254P unknown Het
Gm21886 A T 18: 80,132,867 (GRCm39) L97Q probably damaging Het
Gpr158 A C 2: 21,832,129 (GRCm39) L1076F probably benign Het
Hivep2 T C 10: 14,009,485 (GRCm39) M1714T possibly damaging Het
Hlcs A G 16: 94,068,758 (GRCm39) V154A probably benign Het
Hpdl A T 4: 116,678,062 (GRCm39) L133Q probably damaging Het
Il1rn C A 2: 24,239,554 (GRCm39) T150K probably benign Het
Il6st A G 13: 112,625,094 (GRCm39) I237V probably benign Het
Inpp5f A G 7: 128,281,529 (GRCm39) D510G probably damaging Het
Ism2 G T 12: 87,333,769 (GRCm39) T92K possibly damaging Het
Kif13b T C 14: 65,025,909 (GRCm39) I1422T probably benign Het
Kit G A 5: 75,806,507 (GRCm39) V671I possibly damaging Het
Klhdc8a A T 1: 132,230,705 (GRCm39) N190I probably damaging Het
Lad1 C T 1: 135,753,576 (GRCm39) T41I probably damaging Het
Lrrc7 G T 3: 157,903,778 (GRCm39) T294K probably benign Het
Megf8 C T 7: 25,037,796 (GRCm39) R771C probably benign Het
Micu3 A C 8: 40,831,955 (GRCm39) N440T possibly damaging Het
Mnx1 T C 5: 29,679,211 (GRCm39) N291D unknown Het
Mthfr A G 4: 148,136,060 (GRCm39) M378V probably benign Het
Mup2 A T 4: 60,138,454 (GRCm39) D79E probably benign Het
Myzap T C 9: 71,412,465 (GRCm39) T451A probably benign Het
Nlrp9c T C 7: 26,070,860 (GRCm39) D907G probably benign Het
Nr1h4 T C 10: 89,334,267 (GRCm39) E41G probably benign Het
Nxpe5 A C 5: 138,238,022 (GRCm39) Y194S probably damaging Het
Omd A T 13: 49,745,745 (GRCm39) E385V possibly damaging Het
Or12d15 T C 17: 37,694,190 (GRCm39) V244A probably damaging Het
Or12e9 G T 2: 87,202,034 (GRCm39) V53L probably benign Het
Or2av9 A G 11: 58,380,606 (GRCm39) I325T probably benign Het
Or52m1 A G 7: 102,289,533 (GRCm39) I27V probably benign Het
Or5m12 T A 2: 85,734,475 (GRCm39) R308* probably null Het
Or5m3 A T 2: 85,838,563 (GRCm39) I148L probably benign Het
Or9s18 A G 13: 65,300,866 (GRCm39) Y276C probably damaging Het
Pcdh9 G T 14: 94,124,547 (GRCm39) T541K probably damaging Het
Pdia6 T C 12: 17,328,546 (GRCm39) V167A probably damaging Het
Phf7 C T 14: 30,962,370 (GRCm39) R145Q possibly damaging Het
Pitx3 T C 19: 46,125,863 (GRCm39) D20G possibly damaging Het
Plxnb1 T C 9: 108,937,236 (GRCm39) V1139A probably benign Het
Pon2 A T 6: 5,268,995 (GRCm39) N226K probably damaging Het
Potegl C T 2: 23,147,006 (GRCm39) R337C probably benign Het
Ppp1r10 T A 17: 36,241,025 (GRCm39) H642Q possibly damaging Het
Prom2 A G 2: 127,381,731 (GRCm39) L195P probably damaging Het
Psg23 C T 7: 18,345,908 (GRCm39) probably null Het
Rfx4 C A 10: 84,731,876 (GRCm39) Q618K probably benign Het
Rhobtb1 T A 10: 69,084,654 (GRCm39) I15N probably damaging Het
Rhot2 A T 17: 26,060,583 (GRCm39) V233E probably damaging Het
Ripply2 T C 9: 86,901,809 (GRCm39) S112P possibly damaging Het
Slc12a1 C A 2: 125,056,052 (GRCm39) T861N probably benign Het
Slc35f1 T A 10: 52,965,510 (GRCm39) S308R probably damaging Het
Slc35f4 T A 14: 49,536,355 (GRCm39) I427F probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Sned1 G A 1: 93,217,080 (GRCm39) V1322I probably benign Het
Sprr2f G A 3: 92,273,251 (GRCm39) V17M unknown Het
Srd5a3 A G 5: 76,302,490 (GRCm39) H285R probably benign Het
Stab1 T C 14: 30,881,216 (GRCm39) T605A probably benign Het
Syne1 T C 10: 5,223,718 (GRCm39) Q3054R probably damaging Het
Tas1r1 T C 4: 152,122,765 (GRCm39) T27A probably benign Het
Tmem150b A T 7: 4,719,209 (GRCm39) V237E probably benign Het
Trpv6 C T 6: 41,602,087 (GRCm39) M407I probably benign Het
Ttn T G 2: 76,550,698 (GRCm39) D31528A probably damaging Het
Uroc1 A T 6: 90,323,344 (GRCm39) D354V possibly damaging Het
Vmn2r69 T C 7: 85,060,467 (GRCm39) I372M probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Zfp971 T A 2: 177,674,967 (GRCm39) C189S 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
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
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'- GGCTGGGCACTGTGAACA -3'
(R):5'- CTCTTGCTTTGATTTCACATCTGAA -3'

Sequencing Primer
(F):5'- TGTGAACACAGTGGCCAG -3'
(R):5'- TTCAGGAGCATTGGACACCTG -3'
Posted On 2019-12-02