Incidental Mutation 'R9148:Nup98'
ID 694803
Institutional Source Beutler Lab
Gene Symbol Nup98
Ensembl Gene ENSMUSG00000063550
Gene Name nucleoporin 98
Synonyms Nup96
MMRRC Submission 068937-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9148 (G1)
Quality Score 225.009
Status 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 96% (94/98)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,345 (GRCm39) I102N probably damaging Het
2610008E11Rik A T 10: 78,903,406 (GRCm39) C303* probably null Het
A430033K04Rik T A 5: 138,644,547 (GRCm39) V144D possibly damaging Het
Adamts13 T A 2: 26,883,024 (GRCm39) M858K probably benign Het
Ankrd29 T C 18: 12,408,760 (GRCm39) probably benign Het
Arg1 A C 10: 24,796,655 (GRCm39) D57E probably benign Het
Bend4 G A 5: 67,557,415 (GRCm39) T467M probably damaging Het
C1s1 T C 6: 124,517,758 (GRCm39) D74G probably damaging Het
Cacnb2 G A 2: 14,972,773 (GRCm39) G227S possibly damaging Het
Cbs T C 17: 31,844,889 (GRCm39) D137G probably damaging Het
Ccdc136 A G 6: 29,418,070 (GRCm39) E846G probably damaging Het
Cd6 A T 19: 10,776,855 (GRCm39) S57T probably benign Het
Cep20 G A 16: 14,135,222 (GRCm39) probably benign Het
Col11a2 T A 17: 34,273,119 (GRCm39) probably benign Het
Col7a1 T C 9: 108,789,274 (GRCm39) S829P unknown Het
Ctsj T C 13: 61,149,249 (GRCm39) Y264C probably damaging Het
Dennd3 T A 15: 73,429,463 (GRCm39) N915K probably damaging Het
E2f2 A T 4: 135,908,595 (GRCm39) probably null Het
Eme1 T C 11: 94,538,855 (GRCm39) T342A possibly damaging Het
Epc1 A T 18: 6,453,266 (GRCm39) probably benign Het
Fat1 T C 8: 45,405,682 (GRCm39) V811A possibly damaging Het
Fbxo2 A G 4: 148,250,166 (GRCm39) E232G probably damaging Het
Flnb G T 14: 7,817,996 (GRCm38) probably benign Het
Fmn1 A C 2: 113,271,973 (GRCm39) N114H unknown Het
Foxp2 A T 6: 15,286,711 (GRCm39) Q67L possibly damaging Het
Galntl5 A T 5: 25,415,353 (GRCm39) I295L possibly damaging Het
Gjd4 T A 18: 9,280,095 (GRCm39) T328S probably benign Het
Hint2 A G 4: 43,654,952 (GRCm39) I59T probably damaging Het
Hpn C T 7: 30,802,043 (GRCm39) R252Q probably benign Het
Hspa12a T G 19: 58,793,890 (GRCm39) T324P probably damaging Het
Ighv4-1 A T 12: 113,912,000 (GRCm39) D84E possibly damaging Het
Il1r2 T A 1: 40,151,258 (GRCm39) I171N probably damaging Het
Il31ra C T 13: 112,670,276 (GRCm39) E371K probably benign Het
Klhl24 C T 16: 19,936,690 (GRCm39) R433C probably damaging Het
Klra5 C T 6: 129,886,911 (GRCm39) C39Y probably benign Het
Lypd8l T A 11: 58,499,338 (GRCm39) D160V probably benign Het
Macc1 T C 12: 119,414,091 (GRCm39) S756P possibly damaging Het
Mael A G 1: 166,029,259 (GRCm39) V388A probably benign Het
Mast3 A G 8: 71,233,091 (GRCm39) S1074P probably damaging Het
Med13 A G 11: 86,192,297 (GRCm39) C823R probably benign Het
Megf6 A G 4: 154,339,130 (GRCm39) T556A probably benign Het
Mlip A G 9: 77,045,694 (GRCm39) F14L possibly damaging Het
Moxd2 C A 6: 40,860,978 (GRCm39) C271F probably damaging Het
Myo1e A T 9: 70,283,830 (GRCm39) D842V probably damaging Het
Ndst4 C T 3: 125,231,722 (GRCm39) A97V probably damaging Het
Nherf4 A G 9: 44,160,676 (GRCm39) C240R probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nptx2 A G 5: 144,492,980 (GRCm39) T356A probably benign Het
Nup160 A G 2: 90,533,489 (GRCm39) D646G probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1j19 A G 2: 36,676,938 (GRCm39) T134A probably benign Het
Or1p1 A C 11: 74,180,169 (GRCm39) Q232H probably damaging Het
Or5c1 T C 2: 37,222,017 (GRCm39) L86P possibly damaging Het
Or7h8 T A 9: 20,124,358 (GRCm39) F238I probably damaging Het
Or8k24 A G 2: 86,216,324 (GRCm39) V146A probably benign Het
Osbp2 A G 11: 3,665,143 (GRCm39) L67P probably damaging Het
Pabpc6 C T 17: 9,886,937 (GRCm39) S538N probably benign Het
Pcdhga1 C A 18: 37,796,433 (GRCm39) A479D possibly damaging Het
Pdgfd A T 9: 6,333,328 (GRCm39) D172V probably benign Het
Pfpl A T 19: 12,405,804 (GRCm39) E18D possibly damaging Het
Plat A G 8: 23,268,466 (GRCm39) T373A probably damaging Het
Plekhg1 G A 10: 3,907,527 (GRCm39) D870N Het
Ppp1r13b T C 12: 111,800,268 (GRCm39) H626R probably benign Het
Ppp6r3 A T 19: 3,543,974 (GRCm39) V347D probably damaging Het
Prr12 G T 7: 44,697,242 (GRCm39) P891H unknown Het
Psg22 T A 7: 18,460,682 (GRCm39) I437K probably benign Het
Ptpra T A 2: 30,328,255 (GRCm39) M192K probably damaging Het
Ptpra G T 2: 30,328,256 (GRCm39) M192I probably benign Het
Ptprj G A 2: 90,288,562 (GRCm39) S801L probably benign Het
Relb T C 7: 19,350,276 (GRCm39) Y228C probably damaging Het
Rfx3 A T 19: 27,878,207 (GRCm39) V30E possibly damaging Het
Rgs2 A G 1: 143,877,925 (GRCm39) S124P probably damaging Het
Rph3a T C 5: 121,086,880 (GRCm39) N440S possibly damaging Het
Ryr2 T C 13: 11,900,424 (GRCm39) T104A probably benign Het
Scn7a T C 2: 66,514,507 (GRCm39) D1089G possibly damaging Het
Sebox A G 11: 78,395,222 (GRCm39) D188G possibly damaging Het
Serpinf2 A T 11: 75,323,418 (GRCm39) F429L probably damaging Het
Six4 A C 12: 73,155,681 (GRCm39) S429A probably benign Het
Slc2a10 A T 2: 165,357,543 (GRCm39) H401L possibly damaging Het
Spag16 G C 1: 70,420,459 (GRCm39) L482F probably damaging Het
Ssbp2 T C 13: 91,842,141 (GRCm39) S321P probably damaging Het
Syne2 A G 12: 75,937,158 (GRCm39) E252G probably damaging Het
Synj2 T C 17: 6,084,172 (GRCm39) I1178T probably damaging Het
Tafa5 T C 15: 87,428,775 (GRCm39) I28T probably benign Het
Tmem132b C A 5: 125,864,167 (GRCm39) Q758K probably damaging Het
Tril A G 6: 53,795,137 (GRCm39) L695P probably damaging Het
Ubap1l T C 9: 65,276,603 (GRCm39) L35P probably damaging Het
Vmn1r225 T A 17: 20,722,577 (GRCm39) M6K possibly damaging Het
Vmn1r229 T C 17: 21,034,758 (GRCm39) M1T probably null Het
Vmn2r80 A T 10: 79,030,687 (GRCm39) I838F probably damaging Het
Vmn2r98 T A 17: 19,286,383 (GRCm39) W294R probably benign Het
Wnk1 A G 6: 119,925,631 (GRCm39) S1527P unknown Het
Wnt11 G A 7: 98,488,241 (GRCm39) probably benign Het
Zdhhc17 A T 10: 110,785,503 (GRCm39) S436R possibly damaging Het
Zfp12 T C 5: 143,230,389 (GRCm39) S271P 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
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
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'- TCTGCTAAAGAGATCCATTCAGC -3'
(R):5'- TACAGGATAAGTACTGTGTTGCTCAC -3'

Sequencing Primer
(F):5'- GAGATCCATTCAGCTTAGAAGAAAC -3'
(R):5'- AATGTTATACTTGTTCTGGGCACAG -3'
Posted On 2022-01-20