Incidental Mutation 'IGL00898:Nup160'
ID26817
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup160
Ensembl Gene ENSMUSG00000051329
Gene Namenucleoporin 160
SynonymsGtl1-13, 2810011M03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL00898
Quality Score
Status
Chromosome2
Chromosomal Location90677215-90736328 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 90693106 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 351 (H351Q)
Ref Sequence ENSEMBL: ENSMUSP00000059289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057481]
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: 8,733,690 G956S probably damaging Het
Alpk2 G T 18: 65,350,573 D121E probably benign Het
Apc A G 18: 34,317,094 T2314A probably damaging Het
Arhgef11 T C 3: 87,729,503 L990P probably damaging Het
Ccar1 T A 10: 62,753,234 K823N unknown Het
Celsr2 C T 3: 108,413,879 R539H possibly damaging Het
Clca3b A G 3: 144,844,628 probably benign Het
Cpxcr1 T C X: 116,477,710 L106S possibly damaging Het
Edc4 T A 8: 105,881,123 L16Q probably damaging Het
Emc1 A G 4: 139,371,630 E808G probably damaging Het
Epha6 A T 16: 59,775,541 probably null Het
Epha7 G A 4: 28,938,693 R516Q probably damaging Het
Fancm T C 12: 65,106,000 S1077P probably benign Het
Gm4952 C T 19: 12,618,408 T54I probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Il1b T C 2: 129,367,333 R126G possibly damaging Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Lamb3 A T 1: 193,338,883 T923S possibly damaging Het
Lrp6 C T 6: 134,479,739 S854N probably damaging Het
Ltv1 A G 10: 13,182,287 F258L probably damaging Het
Mcm3ap T C 10: 76,470,325 S91P probably benign Het
Msra A G 14: 64,123,325 I125T probably damaging Het
Nr0b1 A T X: 86,192,471 Q224L probably benign Het
Nr2e1 T A 10: 42,568,453 D220V probably damaging Het
Olfr1446 T A 19: 12,889,918 M220L probably benign Het
Pcdh12 C A 18: 38,281,457 V872L probably benign Het
Pcnx2 T A 8: 125,887,585 S376C probably damaging Het
Pkd2 A G 5: 104,483,135 E475G probably damaging Het
Psg22 A G 7: 18,724,467 Y322C probably damaging Het
Rgl2 T C 17: 33,933,418 I363T possibly damaging Het
Rimklb G T 6: 122,456,631 Q187K possibly damaging Het
Sectm1b A T 11: 121,056,249 W17R probably damaging Het
Snu13 C A 15: 82,042,315 A60S probably benign Het
Sox30 T A 11: 45,991,900 F586I possibly damaging Het
Tnfsfm13 C A 11: 69,684,301 V220L probably benign Het
Ttn A T 2: 76,762,773 V20711E probably damaging Het
Vmn2r116 A G 17: 23,385,995 N94S possibly damaging Het
Yipf2 T C 9: 21,592,524 probably null Het
Zzef1 T C 11: 72,875,173 S1509P probably benign Het
Other mutations in Nup160
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Nup160 APN 2 90732827 missense probably damaging 1.00
IGL01111:Nup160 APN 2 90733209 missense probably benign 0.00
IGL01140:Nup160 APN 2 90700565 missense possibly damaging 0.85
IGL01348:Nup160 APN 2 90700428 missense probably benign 0.05
IGL01361:Nup160 APN 2 90684012 nonsense probably null
IGL01595:Nup160 APN 2 90729737 missense probably damaging 1.00
IGL01791:Nup160 APN 2 90703853 missense probably damaging 1.00
IGL02058:Nup160 APN 2 90729707 missense probably damaging 1.00
IGL02147:Nup160 APN 2 90703941 missense probably benign 0.17
IGL02250:Nup160 APN 2 90708870 missense probably damaging 1.00
IGL02507:Nup160 APN 2 90729735 missense probably benign 0.08
IGL03108:Nup160 APN 2 90703825 missense probably benign
R0031:Nup160 UTSW 2 90717587 splice site probably null
R0365:Nup160 UTSW 2 90708844 missense probably benign 0.01
R0417:Nup160 UTSW 2 90735427 missense possibly damaging 0.93
R0781:Nup160 UTSW 2 90733219 splice site probably benign
R1037:Nup160 UTSW 2 90693902 missense probably damaging 1.00
R1110:Nup160 UTSW 2 90733219 splice site probably benign
R1459:Nup160 UTSW 2 90690150 missense probably damaging 1.00
R1468:Nup160 UTSW 2 90700543 missense probably benign
R1468:Nup160 UTSW 2 90700543 missense probably benign
R1478:Nup160 UTSW 2 90679399 start gained probably benign
R1565:Nup160 UTSW 2 90722061 missense possibly damaging 0.62
R1617:Nup160 UTSW 2 90679499 missense probably benign
R1647:Nup160 UTSW 2 90710088 missense probably damaging 0.99
R1648:Nup160 UTSW 2 90710088 missense probably damaging 0.99
R1702:Nup160 UTSW 2 90683958 missense probably damaging 0.96
R1719:Nup160 UTSW 2 90700436 nonsense probably null
R2448:Nup160 UTSW 2 90722057 missense probably damaging 1.00
R3775:Nup160 UTSW 2 90722076 missense probably benign
R3776:Nup160 UTSW 2 90722076 missense probably benign
R4600:Nup160 UTSW 2 90685197 critical splice donor site probably null
R4812:Nup160 UTSW 2 90725691 missense probably damaging 1.00
R5075:Nup160 UTSW 2 90700174 missense probably damaging 0.99
R5309:Nup160 UTSW 2 90732832 nonsense probably null
R5312:Nup160 UTSW 2 90732832 nonsense probably null
R5447:Nup160 UTSW 2 90725615 missense possibly damaging 0.82
R5682:Nup160 UTSW 2 90679811 missense probably benign 0.29
R5726:Nup160 UTSW 2 90717851 missense probably damaging 1.00
R5771:Nup160 UTSW 2 90723396 missense probably damaging 1.00
R5825:Nup160 UTSW 2 90679770 critical splice acceptor site probably null
R5851:Nup160 UTSW 2 90707038 missense probably benign
R5988:Nup160 UTSW 2 90689209 missense probably damaging 1.00
R6151:Nup160 UTSW 2 90690105 nonsense probably null
R6164:Nup160 UTSW 2 90717876 nonsense probably null
R6356:Nup160 UTSW 2 90711935 splice site probably null
R6379:Nup160 UTSW 2 90702409 nonsense probably null
R6519:Nup160 UTSW 2 90718217 missense probably damaging 0.99
R6755:Nup160 UTSW 2 90700456 missense probably damaging 1.00
R6989:Nup160 UTSW 2 90707020 missense probably benign 0.34
R7251:Nup160 UTSW 2 90700174 missense probably damaging 0.99
R7256:Nup160 UTSW 2 90723355 missense probably damaging 1.00
R7353:Nup160 UTSW 2 90703952 missense probably damaging 0.99
R7546:Nup160 UTSW 2 90685058 missense probably damaging 1.00
R7761:Nup160 UTSW 2 90703112 missense probably benign
R7768:Nup160 UTSW 2 90700116 missense probably damaging 1.00
R7938:Nup160 UTSW 2 90702711 intron probably null
Posted On2013-04-17