Incidental Mutation 'IGL03401:Nup93'
ID 421439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup93
Ensembl Gene ENSMUSG00000032939
Gene Name nucleoporin 93
Synonyms 2410008G02Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock # IGL03401
Quality Score
Status
Chromosome 8
Chromosomal Location 94214564-94317227 bp(+) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 94309711 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079961] [ENSMUST00000109547] [ENSMUST00000211822] [ENSMUST00000212824]
AlphaFold Q8BJ71
Predicted Effect probably null
Transcript: ENSMUST00000079961
SMART Domains Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939

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
SMART Domains Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939

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 probably null
Transcript: ENSMUST00000211822
Predicted Effect probably null
Transcript: ENSMUST00000212824
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,266 R581* probably null Het
6430573F11Rik A C 8: 36,505,669 D91A probably damaging Het
Actn1 A T 12: 80,168,967 L799* probably null Het
Adam12 A T 7: 133,916,463 N327K probably damaging Het
Adamts9 A G 6: 92,786,868 V1314A probably damaging Het
Agbl4 G T 4: 111,119,019 R191L probably damaging Het
Ano6 T C 15: 95,949,905 I611T probably damaging Het
Arhgef26 T A 3: 62,423,532 S556T possibly damaging Het
AW209491 A G 13: 14,637,456 D298G probably benign Het
Cc2d1a A G 8: 84,134,629 M763T probably benign Het
Cep290 A G 10: 100,500,265 D388G probably benign Het
Cept1 T C 3: 106,533,390 E151G probably damaging Het
Chat T C 14: 32,452,569 K139E probably damaging Het
Edc4 T A 8: 105,887,514 Y7* probably null Het
Enpep T A 3: 129,312,620 Q319L probably benign Het
F13a1 A G 13: 36,898,080 I550T probably benign Het
Fbxw19 A G 9: 109,494,970 probably null Het
Frem3 T G 8: 80,614,541 D1154E probably damaging Het
Frmpd1 G T 4: 45,284,383 C1068F probably benign Het
Fsip2 C A 2: 82,990,470 P5516T probably benign Het
Hyou1 G A 9: 44,384,909 A429T probably damaging Het
Lrp1b C T 2: 41,110,778 E2145K probably benign Het
Map1b A T 13: 99,427,268 V2397D unknown Het
Mcm3ap T C 10: 76,484,649 probably benign Het
Mgst2 T G 3: 51,664,512 S20R possibly damaging Het
Nr4a3 T A 4: 48,070,987 probably null Het
Olfr397 T C 11: 73,965,562 probably benign Het
Papola A T 12: 105,829,122 T611S probably benign Het
Pik3ca C A 3: 32,437,814 probably null Het
Pklr T C 3: 89,142,729 V337A probably benign Het
Prl7b1 A G 13: 27,601,981 Y235H probably benign Het
Proc T C 18: 32,123,273 Y447C possibly damaging Het
Pum1 T C 4: 130,743,681 probably benign Het
Rimklb A T 6: 122,464,118 I32N probably damaging Het
Rrm1 T A 7: 102,465,744 D644E possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shbg A G 11: 69,615,099 S361P probably damaging Het
Zfp647 T A 15: 76,911,368 H364L probably damaging Het
Zfp715 A T 7: 43,299,736 S267T probably benign Het
Other mutations in Nup93
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Nup93 APN 8 94309023 critical splice donor site probably null
IGL01652:Nup93 APN 8 94296559 missense possibly damaging 0.93
IGL02003:Nup93 APN 8 94302109 nonsense probably null
IGL02169:Nup93 APN 8 94302129 missense probably damaging 1.00
IGL02212:Nup93 APN 8 94311662 critical splice donor site probably null
IGL02551:Nup93 APN 8 94227833 nonsense probably null
IGL02568:Nup93 APN 8 94309635 missense probably damaging 1.00
IGL03094:Nup93 APN 8 94296502 missense probably benign
IGL03248:Nup93 APN 8 94306088 missense probably damaging 0.98
IGL03273:Nup93 APN 8 94306277 missense probably benign 0.01
PIT4585001:Nup93 UTSW 8 94243727 missense probably benign 0.25
R0409:Nup93 UTSW 8 94303665 missense probably damaging 1.00
R0748:Nup93 UTSW 8 94307943 missense probably damaging 1.00
R0891:Nup93 UTSW 8 94281263 splice site probably benign
R1667:Nup93 UTSW 8 94292687 missense possibly damaging 0.71
R1696:Nup93 UTSW 8 94296555 missense probably benign 0.29
R1862:Nup93 UTSW 8 94306102 missense probably damaging 1.00
R2069:Nup93 UTSW 8 94243739 missense probably damaging 1.00
R2143:Nup93 UTSW 8 94296480 nonsense probably null
R2187:Nup93 UTSW 8 94300850 missense probably damaging 1.00
R2228:Nup93 UTSW 8 94304191 missense probably benign 0.27
R2229:Nup93 UTSW 8 94304191 missense probably benign 0.27
R2254:Nup93 UTSW 8 94227857 critical splice donor site probably null
R2884:Nup93 UTSW 8 94303638 missense probably damaging 1.00
R4521:Nup93 UTSW 8 94314636 missense probably damaging 1.00
R4563:Nup93 UTSW 8 94307892 missense probably damaging 1.00
R4900:Nup93 UTSW 8 94286603 missense probably benign 0.25
R5570:Nup93 UTSW 8 94314670 missense probably damaging 1.00
R6226:Nup93 UTSW 8 94286537 missense probably damaging 1.00
R6489:Nup93 UTSW 8 94302088 missense probably benign 0.10
R6658:Nup93 UTSW 8 94304179 missense probably benign 0.02
R6817:Nup93 UTSW 8 94314682 critical splice donor site probably null
R6895:Nup93 UTSW 8 94243686 missense probably damaging 1.00
R6955:Nup93 UTSW 8 94309673 missense probably damaging 0.96
R7476:Nup93 UTSW 8 94303632 missense probably damaging 1.00
R7643:Nup93 UTSW 8 94286619 critical splice donor site probably null
R7994:Nup93 UTSW 8 94306302 missense probably benign 0.15
R8461:Nup93 UTSW 8 94281335 critical splice donor site probably null
R9177:Nup93 UTSW 8 94227743 missense probably benign 0.25
R9264:Nup93 UTSW 8 94292720 missense probably benign 0.01
R9532:Nup93 UTSW 8 94314621 missense probably damaging 1.00
R9567:Nup93 UTSW 8 94308976 missense possibly damaging 0.94
R9629:Nup93 UTSW 8 94306639 missense probably damaging 0.99
R9721:Nup93 UTSW 8 94303685 missense probably damaging 1.00
Posted On 2016-08-02