Incidental Mutation 'IGL00898:Nup160'
ID 26817
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 # IGL00898
Quality Score
Status
Chromosome 2
Chromosomal Location 90507559-90566672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90523450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 351 (H351Q)
Ref Sequence ENSEMBL: ENSMUSP00000059289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057481]
AlphaFold Q9Z0W3
Predicted Effect probably damaging
Transcript: ENSMUST00000057481
AA Change: H351Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: H351Q

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: ENSMUST00000136739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154036
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,783,690 (GRCm39) G956S probably damaging Het
Alpk2 G T 18: 65,483,644 (GRCm39) D121E probably benign Het
Apc A G 18: 34,450,147 (GRCm39) T2314A probably damaging Het
Arhgef11 T C 3: 87,636,810 (GRCm39) L990P probably damaging Het
Ccar1 T A 10: 62,589,013 (GRCm39) K823N unknown Het
Celsr2 C T 3: 108,321,195 (GRCm39) R539H possibly damaging Het
Clca3b A G 3: 144,550,389 (GRCm39) probably benign Het
Cpxcr1 T C X: 115,387,407 (GRCm39) L106S possibly damaging Het
Edc4 T A 8: 106,607,755 (GRCm39) L16Q probably damaging Het
Emc1 A G 4: 139,098,941 (GRCm39) E808G probably damaging Het
Epha6 A T 16: 59,595,904 (GRCm39) probably null Het
Epha7 G A 4: 28,938,693 (GRCm39) R516Q probably damaging Het
Fancm T C 12: 65,152,774 (GRCm39) S1077P probably benign Het
Gm4952 C T 19: 12,595,772 (GRCm39) T54I probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Il1b T C 2: 129,209,253 (GRCm39) R126G possibly damaging Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Lamb3 A T 1: 193,021,191 (GRCm39) T923S possibly damaging Het
Lrp6 C T 6: 134,456,702 (GRCm39) S854N probably damaging Het
Ltv1 A G 10: 13,058,031 (GRCm39) F258L probably damaging Het
Mcm3ap T C 10: 76,306,159 (GRCm39) S91P probably benign Het
Msra A G 14: 64,360,774 (GRCm39) I125T probably damaging Het
Nr0b1 A T X: 85,236,077 (GRCm39) Q224L probably benign Het
Nr2e1 T A 10: 42,444,449 (GRCm39) D220V probably damaging Het
Or5b96 T A 19: 12,867,282 (GRCm39) M220L probably benign Het
Pcdh12 C A 18: 38,414,510 (GRCm39) V872L probably benign Het
Pcnx2 T A 8: 126,614,324 (GRCm39) S376C probably damaging Het
Pkd2 A G 5: 104,631,001 (GRCm39) E475G probably damaging Het
Psg22 A G 7: 18,458,392 (GRCm39) Y322C probably damaging Het
Rgl2 T C 17: 34,152,392 (GRCm39) I363T possibly damaging Het
Rimklb G T 6: 122,433,590 (GRCm39) Q187K possibly damaging Het
Sectm1b A T 11: 120,947,075 (GRCm39) W17R probably damaging Het
Snu13 C A 15: 81,926,516 (GRCm39) A60S probably benign Het
Sox30 T A 11: 45,882,727 (GRCm39) F586I possibly damaging Het
Tnfsfm13 C A 11: 69,575,127 (GRCm39) V220L probably benign Het
Ttn A T 2: 76,593,117 (GRCm39) V20711E probably damaging Het
Vmn2r116 A G 17: 23,604,969 (GRCm39) N94S possibly damaging Het
Yipf2 T C 9: 21,503,820 (GRCm39) probably null Het
Zzef1 T C 11: 72,765,999 (GRCm39) S1509P probably benign Het
Other mutations in Nup160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Nup160 APN 2 90,563,171 (GRCm39) missense probably damaging 1.00
IGL01111:Nup160 APN 2 90,563,553 (GRCm39) missense probably benign 0.00
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 2013-04-17