Incidental Mutation 'R6519:Nup160'
ID 520948
Institutional Source Beutler Lab
Gene Symbol Nup160
Ensembl Gene ENSMUSG00000051329
Gene Name nucleoporin 160
Synonyms Gtl1-13, 2810011M03Rik
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90507559-90566672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 90548561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1037 (R1037S)
Ref Sequence ENSEMBL: ENSMUSP00000059289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057481]
AlphaFold Q9Z0W3
Predicted Effect probably damaging
Transcript: ENSMUST00000057481
AA Change: R1037S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: R1037S

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: ENSMUST00000132595
Meta Mutation Damage Score 0.8618 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CCCAACTGCAGGATCTTGTAGAG -3'
(R):5'- CACTTGAAAATGTTATGAGAGCCC -3'

Sequencing Primer
(F):5'- CAACTGCAGGATCTTGTAGAGTTTCC -3'
(R):5'- GCTGCTTTTACCACCAAG -3'
Posted On 2018-06-06