Incidental Mutation 'IGL02551:Nup93'
ID 298082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup93
Ensembl Gene ENSMUSG00000032939
Gene Name nucleoporin 93
Synonyms 2410008G02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # IGL02551
Quality Score
Status
Chromosome 8
Chromosomal Location 94941192-95043855 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 94954461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 53 (Q53*)
Ref Sequence ENSEMBL: ENSMUSP00000148700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079961] [ENSMUST00000109547] [ENSMUST00000212824]
AlphaFold Q8BJ71
Predicted Effect probably null
Transcript: ENSMUST00000079961
AA Change: Q53*
SMART Domains Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: Q53*

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
Pfam:Nic96 214 804 6.9e-198 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109547
AA Change: Q53*
SMART Domains Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: Q53*

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
Pfam:Nic96 202 804 8.2e-202 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212707
Predicted Effect probably null
Transcript: ENSMUST00000212824
AA Change: Q53*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,796,618 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,975,068 (GRCm39) I109V probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Adamts18 C A 8: 114,425,704 (GRCm39) C1186F probably damaging Het
Adamts5 A T 16: 85,666,926 (GRCm39) V522E possibly damaging Het
Adcy10 A G 1: 165,370,802 (GRCm39) T694A probably damaging Het
Adgra2 G A 8: 27,609,250 (GRCm39) V609I probably benign Het
Agbl3 A G 6: 34,800,006 (GRCm39) K638R possibly damaging Het
Alpk2 T A 18: 65,505,822 (GRCm39) N66I probably damaging Het
Ap3b1 T A 13: 94,554,599 (GRCm39) I245N probably damaging Het
Aqp9 A G 9: 71,039,922 (GRCm39) V120A probably damaging Het
Arhgef17 T C 7: 100,579,553 (GRCm39) E465G probably damaging Het
Btrc G T 19: 45,411,573 (GRCm39) C31F possibly damaging Het
Calhm2 G A 19: 47,121,539 (GRCm39) S210L probably damaging Het
Cnksr3 C A 10: 7,102,912 (GRCm39) K153N probably damaging Het
Cnr1 T C 4: 33,943,686 (GRCm39) S25P probably benign Het
Dnajc6 T A 4: 101,496,550 (GRCm39) W838R probably damaging Het
Fam78a T A 2: 31,959,568 (GRCm39) T181S probably damaging Het
Fat1 A G 8: 45,504,435 (GRCm39) T4600A probably damaging Het
Fbxo31 A T 8: 122,293,083 (GRCm39) Y101N probably damaging Het
Glmp A G 3: 88,232,389 (GRCm39) M1V probably null Het
Gsdmc T A 15: 63,673,782 (GRCm39) T168S probably benign Het
Has1 C T 17: 18,068,560 (GRCm39) V265I probably damaging Het
Hmcn2 A G 2: 31,344,823 (GRCm39) D4670G possibly damaging Het
Kcnj4 C T 15: 79,369,103 (GRCm39) M292I probably benign Het
Kmo A T 1: 175,465,485 (GRCm39) S80C probably damaging Het
Lrrc8d C T 5: 105,961,414 (GRCm39) T608I possibly damaging Het
Mical2 A T 7: 111,923,197 (GRCm39) N635I probably benign Het
Nags T C 11: 102,038,767 (GRCm39) S403P probably damaging Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Ncan A T 8: 70,555,112 (GRCm39) N1018K probably damaging Het
Notch3 T A 17: 32,373,705 (GRCm39) probably benign Het
Pdk2 T A 11: 94,919,412 (GRCm39) M288L probably benign Het
Pkd1 A G 17: 24,792,789 (GRCm39) Y1492C probably damaging Het
Pla2g12b T A 10: 59,239,692 (GRCm39) W34R probably damaging Het
Pla2g6 T A 15: 79,183,294 (GRCm39) D511V possibly damaging Het
Plin2 C A 4: 86,576,929 (GRCm39) M265I probably benign Het
Ppp6c A T 2: 39,096,669 (GRCm39) F78I probably damaging Het
Prop1 A T 11: 50,841,773 (GRCm39) M211K possibly damaging Het
Prr14l T A 5: 32,988,828 (GRCm39) E222D probably damaging Het
Rtkn A T 6: 83,128,905 (GRCm39) I454F probably damaging Het
Serinc2 T C 4: 130,154,567 (GRCm39) I226V probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slc13a3 G T 2: 165,266,493 (GRCm39) F348L probably damaging Het
Slc6a15 T A 10: 103,240,136 (GRCm39) probably benign Het
Spg7 G A 8: 123,803,717 (GRCm39) G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 (GRCm39) D40G probably benign Het
Tmcc2 A G 1: 132,285,317 (GRCm39) L683P probably damaging Het
Triobp T C 15: 78,857,689 (GRCm39) S1097P probably benign Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Ttll6 T C 11: 96,045,526 (GRCm39) I581T probably benign Het
Usp29 A G 7: 6,966,352 (GRCm39) probably null Het
Vgll4 A G 6: 114,839,254 (GRCm39) W246R probably damaging Het
Vmn2r26 T C 6: 124,003,100 (GRCm39) V170A probably benign Het
Vmn2r62 T C 7: 42,437,930 (GRCm39) T185A probably benign Het
Vwce A G 19: 10,622,400 (GRCm39) H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 (GRCm39) E2194G possibly damaging Het
Other mutations in Nup93
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Nup93 APN 8 95,035,651 (GRCm39) critical splice donor site probably null
IGL01652:Nup93 APN 8 95,023,187 (GRCm39) missense possibly damaging 0.93
IGL02003:Nup93 APN 8 95,028,737 (GRCm39) nonsense probably null
IGL02169:Nup93 APN 8 95,028,757 (GRCm39) missense probably damaging 1.00
IGL02212:Nup93 APN 8 95,038,290 (GRCm39) critical splice donor site probably null
IGL02568:Nup93 APN 8 95,036,263 (GRCm39) missense probably damaging 1.00
IGL03094:Nup93 APN 8 95,023,130 (GRCm39) missense probably benign
IGL03248:Nup93 APN 8 95,032,716 (GRCm39) missense probably damaging 0.98
IGL03273:Nup93 APN 8 95,032,905 (GRCm39) missense probably benign 0.01
IGL03401:Nup93 APN 8 95,036,339 (GRCm39) splice site probably null
PIT4585001:Nup93 UTSW 8 94,970,355 (GRCm39) missense probably benign 0.25
R0409:Nup93 UTSW 8 95,030,293 (GRCm39) missense probably damaging 1.00
R0748:Nup93 UTSW 8 95,034,571 (GRCm39) missense probably damaging 1.00
R0891:Nup93 UTSW 8 95,007,891 (GRCm39) splice site probably benign
R1667:Nup93 UTSW 8 95,019,315 (GRCm39) missense possibly damaging 0.71
R1696:Nup93 UTSW 8 95,023,183 (GRCm39) missense probably benign 0.29
R1862:Nup93 UTSW 8 95,032,730 (GRCm39) missense probably damaging 1.00
R2069:Nup93 UTSW 8 94,970,367 (GRCm39) missense probably damaging 1.00
R2143:Nup93 UTSW 8 95,023,108 (GRCm39) nonsense probably null
R2187:Nup93 UTSW 8 95,027,478 (GRCm39) missense probably damaging 1.00
R2228:Nup93 UTSW 8 95,030,819 (GRCm39) missense probably benign 0.27
R2229:Nup93 UTSW 8 95,030,819 (GRCm39) missense probably benign 0.27
R2254:Nup93 UTSW 8 94,954,485 (GRCm39) critical splice donor site probably null
R2884:Nup93 UTSW 8 95,030,266 (GRCm39) missense probably damaging 1.00
R4521:Nup93 UTSW 8 95,041,264 (GRCm39) missense probably damaging 1.00
R4563:Nup93 UTSW 8 95,034,520 (GRCm39) missense probably damaging 1.00
R4900:Nup93 UTSW 8 95,013,231 (GRCm39) missense probably benign 0.25
R5570:Nup93 UTSW 8 95,041,298 (GRCm39) missense probably damaging 1.00
R6226:Nup93 UTSW 8 95,013,165 (GRCm39) missense probably damaging 1.00
R6489:Nup93 UTSW 8 95,028,716 (GRCm39) missense probably benign 0.10
R6658:Nup93 UTSW 8 95,030,807 (GRCm39) missense probably benign 0.02
R6817:Nup93 UTSW 8 95,041,310 (GRCm39) critical splice donor site probably null
R6895:Nup93 UTSW 8 94,970,314 (GRCm39) missense probably damaging 1.00
R6955:Nup93 UTSW 8 95,036,301 (GRCm39) missense probably damaging 0.96
R7476:Nup93 UTSW 8 95,030,260 (GRCm39) missense probably damaging 1.00
R7643:Nup93 UTSW 8 95,013,247 (GRCm39) critical splice donor site probably null
R7994:Nup93 UTSW 8 95,032,930 (GRCm39) missense probably benign 0.15
R8461:Nup93 UTSW 8 95,007,963 (GRCm39) critical splice donor site probably null
R9177:Nup93 UTSW 8 94,954,371 (GRCm39) missense probably benign 0.25
R9264:Nup93 UTSW 8 95,019,348 (GRCm39) missense probably benign 0.01
R9532:Nup93 UTSW 8 95,041,249 (GRCm39) missense probably damaging 1.00
R9567:Nup93 UTSW 8 95,035,604 (GRCm39) missense possibly damaging 0.94
R9629:Nup93 UTSW 8 95,033,267 (GRCm39) missense probably damaging 0.99
R9721:Nup93 UTSW 8 95,030,313 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16