Incidental Mutation 'IGL02157:Nup188'
ID 282267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup188
Ensembl Gene ENSMUSG00000052533
Gene Name nucleoporin 188
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL02157
Quality Score
Status
Chromosome 2
Chromosomal Location 30286397-30344266 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 30329373 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 867 (L867*)
Ref Sequence ENSEMBL: ENSMUSP00000065836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064447]
AlphaFold Q6ZQH8
Predicted Effect probably null
Transcript: ENSMUST00000064447
AA Change: L867*
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: L867*

DomainStartEndE-ValueType
Pfam:Nup188 31 941 9.3e-213 PFAM
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1307 1320 N/A INTRINSIC
low complexity region 1330 1360 N/A INTRINSIC
low complexity region 1696 1709 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133603
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 (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,805,487 probably benign Het
Amotl1 A T 9: 14,571,715 probably benign Het
Amph A T 13: 19,104,231 T297S possibly damaging Het
Arhgap31 A G 16: 38,623,901 V198A probably damaging Het
Bop1 T C 15: 76,455,572 D216G possibly damaging Het
Cdh13 T C 8: 118,505,671 I38T possibly damaging Het
Clmn T C 12: 104,781,918 T457A probably benign Het
Clstn2 A C 9: 97,541,875 M279R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Fam83h A T 15: 76,005,055 V208E probably damaging Het
Fer A G 17: 64,138,899 N785S probably benign Het
Fnip1 T C 11: 54,487,763 L225P probably damaging Het
Gbp11 C T 5: 105,327,508 V325M possibly damaging Het
Glis1 A G 4: 107,627,561 T418A probably benign Het
Gm13088 A T 4: 143,654,377 C359S probably damaging Het
Hook2 C T 8: 85,001,150 probably benign Het
Hoxa6 C A 6: 52,208,191 C145F possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mbd5 T C 2: 49,278,975 V1156A probably benign Het
Mettl7b T G 10: 128,960,617 T108P possibly damaging Het
Mon2 G A 10: 123,013,472 P1308S probably damaging Het
Mta2 T A 19: 8,947,249 probably benign Het
Oca2 G A 7: 56,324,797 probably null Het
Olfr535 T A 7: 140,492,934 C99S probably damaging Het
Olfr794 A G 10: 129,571,150 E165G probably damaging Het
Olfr857 T A 9: 19,713,289 V154E probably benign Het
Plekhh2 A G 17: 84,566,942 probably benign Het
Rhbdd3 T C 11: 5,105,424 probably benign Het
Timeless T A 10: 128,242,386 V255E probably benign Het
Trh A T 6: 92,242,967 S123T probably benign Het
Ugdh C T 5: 65,422,692 A252T probably damaging Het
Zfp619 A G 7: 39,534,864 Y106C probably damaging Het
Zic5 G A 14: 122,459,512 P564S unknown Het
Other mutations in Nup188
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Nup188 APN 2 30333400 missense probably damaging 0.98
IGL01599:Nup188 APN 2 30327525 missense possibly damaging 0.92
IGL01938:Nup188 APN 2 30329359 missense probably benign
IGL01973:Nup188 APN 2 30339850 missense possibly damaging 0.95
IGL02221:Nup188 APN 2 30330641 missense possibly damaging 0.75
IGL02277:Nup188 APN 2 30326511 missense possibly damaging 0.95
IGL02335:Nup188 APN 2 30323636 critical splice donor site probably null
IGL02986:Nup188 APN 2 30307633 splice site probably null
IGL03029:Nup188 APN 2 30322580 splice site probably benign
IGL03194:Nup188 APN 2 30304334 missense possibly damaging 0.95
IGL03370:Nup188 APN 2 30340641 missense possibly damaging 0.52
core UTSW 2 30339894 missense probably damaging 1.00
kern UTSW 2 30337033 missense possibly damaging 0.94
P0027:Nup188 UTSW 2 30322681 missense probably damaging 0.99
R0006:Nup188 UTSW 2 30322023 missense probably benign 0.27
R0360:Nup188 UTSW 2 30326479 missense probably null 0.93
R0373:Nup188 UTSW 2 30330988 missense probably damaging 1.00
R0645:Nup188 UTSW 2 30343466 splice site probably null
R1411:Nup188 UTSW 2 30343795 missense probably benign 0.01
R1670:Nup188 UTSW 2 30340655 missense probably benign 0.19
R2034:Nup188 UTSW 2 30310085 unclassified probably benign
R2113:Nup188 UTSW 2 30304101 nonsense probably null
R2142:Nup188 UTSW 2 30336706 missense possibly damaging 0.49
R2221:Nup188 UTSW 2 30336924 splice site probably benign
R2567:Nup188 UTSW 2 30341782 missense possibly damaging 0.53
R2964:Nup188 UTSW 2 30325346 missense probably damaging 0.98
R4006:Nup188 UTSW 2 30309878 missense probably damaging 0.99
R4007:Nup188 UTSW 2 30309878 missense probably damaging 0.99
R4079:Nup188 UTSW 2 30309878 missense probably damaging 0.99
R4480:Nup188 UTSW 2 30322129 intron probably benign
R4628:Nup188 UTSW 2 30329346 missense probably damaging 1.00
R4687:Nup188 UTSW 2 30330633 missense probably benign 0.01
R4814:Nup188 UTSW 2 30326511 missense possibly damaging 0.95
R4834:Nup188 UTSW 2 30339584 missense probably damaging 1.00
R5038:Nup188 UTSW 2 30309220 missense probably damaging 0.98
R5056:Nup188 UTSW 2 30304131 missense probably damaging 0.98
R5124:Nup188 UTSW 2 30330935 missense probably damaging 1.00
R5256:Nup188 UTSW 2 30330749 missense probably damaging 1.00
R5284:Nup188 UTSW 2 30330635 missense probably damaging 1.00
R5548:Nup188 UTSW 2 30326493 missense probably damaging 0.99
R5560:Nup188 UTSW 2 30309885 missense probably damaging 0.99
R5668:Nup188 UTSW 2 30336324 missense probably damaging 1.00
R5769:Nup188 UTSW 2 30330735 missense probably benign 0.34
R5773:Nup188 UTSW 2 30322196 missense possibly damaging 0.92
R5774:Nup188 UTSW 2 30301048 missense probably damaging 1.00
R5827:Nup188 UTSW 2 30339847 missense probably damaging 1.00
R5919:Nup188 UTSW 2 30339894 missense probably damaging 1.00
R5923:Nup188 UTSW 2 30304090 missense probably benign
R6185:Nup188 UTSW 2 30341710 missense probably damaging 0.97
R6457:Nup188 UTSW 2 30322187 missense probably damaging 0.98
R6529:Nup188 UTSW 2 30326454 missense possibly damaging 0.95
R7002:Nup188 UTSW 2 30323568 missense probably damaging 0.99
R7195:Nup188 UTSW 2 30341830 critical splice donor site probably null
R7214:Nup188 UTSW 2 30307554 missense possibly damaging 0.71
R7345:Nup188 UTSW 2 30340601 missense probably benign 0.09
R7853:Nup188 UTSW 2 30323563 missense possibly damaging 0.95
R7998:Nup188 UTSW 2 30330971 missense probably damaging 1.00
R8012:Nup188 UTSW 2 30337265 missense possibly damaging 0.95
R8080:Nup188 UTSW 2 30337033 missense possibly damaging 0.94
R8804:Nup188 UTSW 2 30330879 missense probably benign
R8850:Nup188 UTSW 2 30327564 missense probably damaging 0.99
R9110:Nup188 UTSW 2 30332449 missense possibly damaging 0.94
R9157:Nup188 UTSW 2 30298444 missense probably benign 0.02
R9209:Nup188 UTSW 2 30342385 missense probably benign 0.02
R9287:Nup188 UTSW 2 30336714 missense probably damaging 0.99
R9325:Nup188 UTSW 2 30322259 missense probably damaging 0.99
R9390:Nup188 UTSW 2 30330765 critical splice donor site probably null
R9607:Nup188 UTSW 2 30307712 missense probably benign 0.01
R9746:Nup188 UTSW 2 30304288 missense probably damaging 0.99
R9768:Nup188 UTSW 2 30337033 missense probably damaging 0.99
T0722:Nup188 UTSW 2 30322681 missense probably damaging 0.99
Posted On 2015-04-16