Incidental Mutation 'R8745:Nup160'
ID 663465
Institutional Source Beutler Lab
Gene Symbol Nup160
Ensembl Gene ENSMUSG00000051329
Gene Name nucleoporin 160
Synonyms Gtl1-13, 2810011M03Rik
MMRRC Submission 068589-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8745 (G1)
Quality Score 214.009
Status Not validated
Chromosome 2
Chromosomal Location 90507559-90566672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90530463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 445 (F445L)
Ref Sequence ENSEMBL: ENSMUSP00000059289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057481]
AlphaFold Q9Z0W3
Predicted Effect probably benign
Transcript: ENSMUST00000057481
AA Change: F445L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: F445L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,611,807 (GRCm39) N377S probably benign Het
Aldh3b3 A T 19: 4,014,890 (GRCm39) Y129F possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd61 G A 5: 143,828,237 (GRCm39) S246L possibly damaging Het
Ccdc187 T A 2: 26,170,526 (GRCm39) I651F probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfap58 A T 19: 47,929,553 (GRCm39) K5* probably null Het
Col27a1 T C 4: 63,144,153 (GRCm39) S614P probably benign Het
Crlf3 T A 11: 79,955,100 (GRCm39) E85D probably damaging Het
Dennd2b T A 7: 109,156,279 (GRCm39) H157L probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnah7b A G 1: 46,221,624 (GRCm39) I1243V possibly damaging Het
Dnajc22 A G 15: 98,999,345 (GRCm39) T177A probably benign Het
Dytn A T 1: 63,686,606 (GRCm39) C355S probably benign Het
Efcab3 C T 11: 104,749,304 (GRCm39) T2340M possibly damaging Het
Ehbp1 T C 11: 22,119,064 (GRCm39) N202S possibly damaging Het
Exoc3l2 T C 7: 19,215,212 (GRCm39) I491T unknown Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fam53a A T 5: 33,767,781 (GRCm39) I43N probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
Fn1 T C 1: 71,676,528 (GRCm39) T568A probably benign Het
Gba1 A T 3: 89,115,180 (GRCm39) N404I probably damaging Het
Gsap A G 5: 21,474,949 (GRCm39) Y536C probably benign Het
Hecw2 T A 1: 53,972,330 (GRCm39) E230V probably damaging Het
Heg1 A G 16: 33,555,986 (GRCm39) Q1046R probably benign Het
Kctd14 G A 7: 97,107,445 (GRCm39) W233* probably null Het
Krt88 T C 15: 101,351,460 (GRCm39) S156P possibly damaging Het
L3mbtl1 C A 2: 162,812,137 (GRCm39) H727Q probably benign Het
Man1c1 T C 4: 134,303,295 (GRCm39) K400E probably damaging Het
Map2 A T 1: 66,452,556 (GRCm39) Q482L probably benign Het
Map3k1 A G 13: 111,893,306 (GRCm39) V733A probably damaging Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Map4k3 G A 17: 80,944,164 (GRCm39) R328C possibly damaging Het
Marchf7 C T 2: 60,067,153 (GRCm39) Q558* probably null Het
Mepe T C 5: 104,485,525 (GRCm39) S222P possibly damaging Het
Mfap3l A T 8: 61,124,958 (GRCm39) N400I possibly damaging Het
Myom3 T C 4: 135,522,509 (GRCm39) probably null Het
Nav3 T C 10: 109,659,311 (GRCm39) T769A probably benign Het
Ndufb7 T A 8: 84,297,518 (GRCm39) Y58N probably damaging Het
Or1e20-ps1 C A 11: 73,324,848 (GRCm39) *68L probably null Het
Or4c126 T A 2: 89,824,076 (GRCm39) M113K probably damaging Het
Or4p23 T C 2: 88,576,408 (GRCm39) I275V possibly damaging Het
Ovch2 G A 7: 107,389,584 (GRCm39) S321F possibly damaging Het
Pamr1 T C 2: 102,441,924 (GRCm39) L171P probably damaging Het
Pcdhga5 T C 18: 37,828,974 (GRCm39) V474A possibly damaging Het
Pcgf6 A G 19: 47,039,159 (GRCm39) S34P probably benign Het
Pitrm1 C T 13: 6,603,238 (GRCm39) P96L probably damaging Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ranbp1 A G 16: 18,065,244 (GRCm39) S21P possibly damaging Het
Rasgrp2 G T 19: 6,463,949 (GRCm39) R549L probably damaging Het
Rassf10 T A 7: 112,554,083 (GRCm39) L228Q probably damaging Het
Rho A T 6: 115,912,483 (GRCm39) I275F probably damaging Het
Rrp9 T C 9: 106,361,657 (GRCm39) V400A possibly damaging Het
Satb2 A G 1: 57,008,796 (GRCm39) L62P unknown Het
Scmh1 T A 4: 120,362,559 (GRCm39) L265* probably null Het
Scn7a A G 2: 66,510,526 (GRCm39) M1292T probably benign Het
Serpinb10 A T 1: 107,474,542 (GRCm39) T235S probably benign Het
Serpinb6c A G 13: 34,064,702 (GRCm39) V214A probably benign Het
Sf3b3 A G 8: 111,550,816 (GRCm39) I616T possibly damaging Het
Shb G C 4: 45,458,319 (GRCm39) R282G probably benign Het
Snx5 A T 2: 144,103,932 (GRCm39) S22T probably benign Het
Spata6 T C 4: 111,636,476 (GRCm39) F256L probably benign Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Tex9 T C 9: 72,389,778 (GRCm39) I111V probably benign Het
Tigd4 A G 3: 84,501,874 (GRCm39) I264V probably benign Het
Tmem182 C T 1: 40,877,536 (GRCm39) A137V probably damaging Het
Tnfrsf1a A G 6: 125,338,745 (GRCm39) I385V probably damaging Het
Tnrc18 A T 5: 142,773,202 (GRCm39) F542L Het
Tpbpa G A 13: 61,087,778 (GRCm39) T86I possibly damaging Het
Trappc14 A G 5: 138,261,327 (GRCm39) probably null Het
Ubr5 G A 15: 38,025,039 (GRCm39) P573L Het
Usp54 A G 14: 20,612,176 (GRCm39) I880T probably benign Het
Vmn1r9 A G 6: 57,048,767 (GRCm39) I281V probably benign Het
Zfp456 C A 13: 67,515,373 (GRCm39) C111F possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCTTGGATTCAGATTTCTGGAAG -3'
(R):5'- AACTCCCTGATGAAAAGGCTTAAG -3'

Sequencing Primer
(F):5'- CAGATTTCTGGAAGTTATTCTGGTTC -3'
(R):5'- AGGCTTAAGCATTTCTACTTTCTAC -3'
Posted On 2021-03-08