Incidental Mutation 'IGL01111:Nup160'
ID 50542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup160
Ensembl Gene ENSMUSG00000051329
Gene Name nucleoporin 160
Synonyms Gtl1-13, 2810011M03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL01111
Quality Score
Status
Chromosome 2
Chromosomal Location 90507559-90566672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90563553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1373 (I1373T)
Ref Sequence ENSEMBL: ENSMUSP00000059289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057481]
AlphaFold Q9Z0W3
Predicted Effect probably benign
Transcript: ENSMUST00000057481
AA Change: I1373T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: I1373T

DomainStartEndE-ValueType
Pfam:Nup160 28 543 9.9e-134 PFAM
low complexity region 695 710 N/A INTRINSIC
low complexity region 1141 1152 N/A INTRINSIC
low complexity region 1302 1315 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126503
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l T A 18: 31,905,123 (GRCm39) Y121* probably null Het
Apc C T 18: 34,448,189 (GRCm39) T1661I possibly damaging Het
Ccdc13 T C 9: 121,639,150 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpt1c T C 7: 44,614,978 (GRCm39) H325R possibly damaging Het
Cyp2a22 T C 7: 26,635,883 (GRCm39) K227E probably damaging Het
Ddx10 T C 9: 53,071,248 (GRCm39) K682E possibly damaging Het
Dlg2 T C 7: 91,098,971 (GRCm39) Y123H possibly damaging Het
Dnaaf9 G T 2: 130,578,518 (GRCm39) D655E possibly damaging Het
Dnah11 A T 12: 118,106,669 (GRCm39) probably benign Het
Dpysl2 T C 14: 67,071,681 (GRCm39) E153G probably damaging Het
Edrf1 T A 7: 133,260,282 (GRCm39) Y64* probably null Het
Ephb2 A T 4: 136,384,721 (GRCm39) S897T probably benign Het
Flt1 A G 5: 147,515,146 (GRCm39) I1092T probably damaging Het
Gabra4 T C 5: 71,790,972 (GRCm39) Y290C probably damaging Het
Hectd2 A T 19: 36,574,520 (GRCm39) H67L probably damaging Het
Itgb2 T C 10: 77,377,834 (GRCm39) L11P probably damaging Het
Jmy T C 13: 93,577,529 (GRCm39) R880G probably damaging Het
Klhl2 A G 8: 65,202,081 (GRCm39) C532R probably damaging Het
Kpna1 A G 16: 35,833,259 (GRCm39) probably benign Het
L3mbtl2 T C 15: 81,569,099 (GRCm39) V591A possibly damaging Het
Ldc1 T A 4: 130,115,518 (GRCm39) D10V probably benign Het
Lepr A T 4: 101,671,852 (GRCm39) N959Y possibly damaging Het
Man1a A T 10: 53,853,109 (GRCm39) probably benign Het
Mov10 A T 3: 104,708,721 (GRCm39) S431T possibly damaging Het
Mx2 A T 16: 97,359,919 (GRCm39) Q563L probably benign Het
Nrap A T 19: 56,333,990 (GRCm39) Y874N probably damaging Het
Nwd2 A T 5: 63,964,643 (GRCm39) D1409V probably damaging Het
Obsl1 A T 1: 75,473,789 (GRCm39) V744E possibly damaging Het
Or51l4 T A 7: 103,404,580 (GRCm39) T71S probably benign Het
Pgap1 T C 1: 54,570,102 (GRCm39) K315R probably benign Het
Rab8a T C 8: 72,929,700 (GRCm39) V114A probably damaging Het
Sh2d6 T C 6: 72,496,812 (GRCm39) T73A probably benign Het
Shroom1 A G 11: 53,354,875 (GRCm39) E265G probably damaging Het
Slc8b1 G A 5: 120,671,000 (GRCm39) V529M probably damaging Het
Srbd1 G T 17: 86,405,961 (GRCm39) A613E probably benign Het
Stat1 G A 1: 52,182,120 (GRCm39) probably null Het
Tbck A G 3: 132,400,168 (GRCm39) H73R probably damaging Het
Thg1l A T 11: 45,839,051 (GRCm39) D220E probably damaging Het
Ttn C T 2: 76,608,667 (GRCm39) G16037D probably damaging Het
Unc13b A G 4: 43,096,927 (GRCm39) E100G possibly damaging Het
Vmn2r81 T A 10: 79,083,831 (GRCm39) D68E probably benign Het
Xpo6 T C 7: 125,728,740 (GRCm39) T505A probably benign Het
Zfp976 T C 7: 42,265,711 (GRCm39) K25E probably damaging Het
Other mutations in Nup160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Nup160 APN 2 90,523,450 (GRCm39) missense probably damaging 1.00
IGL00938:Nup160 APN 2 90,563,171 (GRCm39) missense probably damaging 1.00
IGL01140:Nup160 APN 2 90,530,909 (GRCm39) missense possibly damaging 0.85
IGL01348:Nup160 APN 2 90,530,772 (GRCm39) missense probably benign 0.05
IGL01361:Nup160 APN 2 90,514,356 (GRCm39) nonsense probably null
IGL01595:Nup160 APN 2 90,560,081 (GRCm39) missense probably damaging 1.00
IGL01791:Nup160 APN 2 90,534,197 (GRCm39) missense probably damaging 1.00
IGL02058:Nup160 APN 2 90,560,051 (GRCm39) missense probably damaging 1.00
IGL02147:Nup160 APN 2 90,534,285 (GRCm39) missense probably benign 0.17
IGL02250:Nup160 APN 2 90,539,214 (GRCm39) missense probably damaging 1.00
IGL02507:Nup160 APN 2 90,560,079 (GRCm39) missense probably benign 0.08
IGL03108:Nup160 APN 2 90,534,169 (GRCm39) missense probably benign
R0031:Nup160 UTSW 2 90,547,931 (GRCm39) splice site probably null
R0365:Nup160 UTSW 2 90,539,188 (GRCm39) missense probably benign 0.01
R0417:Nup160 UTSW 2 90,565,771 (GRCm39) missense possibly damaging 0.93
R0781:Nup160 UTSW 2 90,563,563 (GRCm39) splice site probably benign
R1037:Nup160 UTSW 2 90,524,246 (GRCm39) missense probably damaging 1.00
R1110:Nup160 UTSW 2 90,563,563 (GRCm39) splice site probably benign
R1459:Nup160 UTSW 2 90,520,494 (GRCm39) missense probably damaging 1.00
R1468:Nup160 UTSW 2 90,530,887 (GRCm39) missense probably benign
R1468:Nup160 UTSW 2 90,530,887 (GRCm39) missense probably benign
R1478:Nup160 UTSW 2 90,509,743 (GRCm39) start gained probably benign
R1565:Nup160 UTSW 2 90,552,405 (GRCm39) missense possibly damaging 0.62
R1617:Nup160 UTSW 2 90,509,843 (GRCm39) missense probably benign
R1647:Nup160 UTSW 2 90,540,432 (GRCm39) missense probably damaging 0.99
R1648:Nup160 UTSW 2 90,540,432 (GRCm39) missense probably damaging 0.99
R1702:Nup160 UTSW 2 90,514,302 (GRCm39) missense probably damaging 0.96
R1719:Nup160 UTSW 2 90,530,780 (GRCm39) nonsense probably null
R2448:Nup160 UTSW 2 90,552,401 (GRCm39) missense probably damaging 1.00
R3775:Nup160 UTSW 2 90,552,420 (GRCm39) missense probably benign
R3776:Nup160 UTSW 2 90,552,420 (GRCm39) missense probably benign
R4600:Nup160 UTSW 2 90,515,541 (GRCm39) critical splice donor site probably null
R4812:Nup160 UTSW 2 90,556,035 (GRCm39) missense probably damaging 1.00
R5075:Nup160 UTSW 2 90,530,518 (GRCm39) missense probably damaging 0.99
R5309:Nup160 UTSW 2 90,563,176 (GRCm39) nonsense probably null
R5312:Nup160 UTSW 2 90,563,176 (GRCm39) nonsense probably null
R5447:Nup160 UTSW 2 90,555,959 (GRCm39) missense possibly damaging 0.82
R5682:Nup160 UTSW 2 90,510,155 (GRCm39) missense probably benign 0.29
R5726:Nup160 UTSW 2 90,548,195 (GRCm39) missense probably damaging 1.00
R5771:Nup160 UTSW 2 90,553,740 (GRCm39) missense probably damaging 1.00
R5825:Nup160 UTSW 2 90,510,114 (GRCm39) critical splice acceptor site probably null
R5851:Nup160 UTSW 2 90,537,382 (GRCm39) missense probably benign
R5988:Nup160 UTSW 2 90,519,553 (GRCm39) missense probably damaging 1.00
R6151:Nup160 UTSW 2 90,520,449 (GRCm39) nonsense probably null
R6164:Nup160 UTSW 2 90,548,220 (GRCm39) nonsense probably null
R6356:Nup160 UTSW 2 90,542,279 (GRCm39) splice site probably null
R6379:Nup160 UTSW 2 90,532,753 (GRCm39) nonsense probably null
R6519:Nup160 UTSW 2 90,548,561 (GRCm39) missense probably damaging 0.99
R6755:Nup160 UTSW 2 90,530,800 (GRCm39) missense probably damaging 1.00
R6989:Nup160 UTSW 2 90,537,364 (GRCm39) missense probably benign 0.34
R7251:Nup160 UTSW 2 90,530,518 (GRCm39) missense probably damaging 0.99
R7256:Nup160 UTSW 2 90,553,699 (GRCm39) missense probably damaging 1.00
R7353:Nup160 UTSW 2 90,534,296 (GRCm39) missense probably damaging 0.99
R7546:Nup160 UTSW 2 90,515,402 (GRCm39) missense probably damaging 1.00
R7761:Nup160 UTSW 2 90,533,456 (GRCm39) missense probably benign
R7768:Nup160 UTSW 2 90,530,460 (GRCm39) missense probably damaging 1.00
R7959:Nup160 UTSW 2 90,544,239 (GRCm39) critical splice donor site probably null
R8525:Nup160 UTSW 2 90,548,440 (GRCm39) critical splice donor site probably null
R8726:Nup160 UTSW 2 90,563,545 (GRCm39) missense possibly damaging 0.86
R8745:Nup160 UTSW 2 90,530,463 (GRCm39) missense probably benign 0.03
R8989:Nup160 UTSW 2 90,548,208 (GRCm39) missense probably damaging 1.00
R9087:Nup160 UTSW 2 90,514,429 (GRCm39) missense probably benign 0.09
R9147:Nup160 UTSW 2 90,533,489 (GRCm39) missense probably damaging 1.00
R9148:Nup160 UTSW 2 90,533,489 (GRCm39) missense probably damaging 1.00
R9149:Nup160 UTSW 2 90,552,585 (GRCm39) intron probably benign
R9153:Nup160 UTSW 2 90,514,429 (GRCm39) missense possibly damaging 0.78
R9284:Nup160 UTSW 2 90,548,375 (GRCm39) missense possibly damaging 0.94
R9435:Nup160 UTSW 2 90,560,138 (GRCm39) missense probably damaging 1.00
R9537:Nup160 UTSW 2 90,560,088 (GRCm39) missense possibly damaging 0.80
R9695:Nup160 UTSW 2 90,538,486 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21