Incidental Mutation 'R3775:Nup160'
ID 273535
Institutional Source Beutler Lab
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 # R3775 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90507559-90566672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90552420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1132 (C1132F)
Ref Sequence ENSEMBL: ENSMUSP00000059289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057481]
AlphaFold Q9Z0W3
Predicted Effect probably benign
Transcript: ENSMUST00000057481
AA Change: C1132F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: C1132F

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 0.0600 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,986,387 (GRCm39) E2557G possibly damaging Het
Arid1a A G 4: 133,414,075 (GRCm39) S1248P unknown Het
C2cd3 T C 7: 100,081,205 (GRCm39) L1327S probably damaging Het
Ccnh T C 13: 85,354,243 (GRCm39) probably benign Het
Dcdc5 C A 2: 106,202,738 (GRCm39) noncoding transcript Het
Eprs1 T C 1: 185,105,205 (GRCm39) F160S probably damaging Het
F9 A G X: 59,064,345 (GRCm39) I190V probably benign Het
Fam185a C A 5: 21,660,804 (GRCm39) A273D probably damaging Het
Fhod1 G A 8: 106,058,270 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hipk2 T C 6: 38,720,029 (GRCm39) D534G probably damaging Het
Ints6l T C X: 55,526,731 (GRCm39) L220S probably damaging Het
Kat7 T C 11: 95,182,357 (GRCm39) T250A probably benign Het
Kif23 G A 9: 61,832,274 (GRCm39) S623L probably benign Het
Krt32 A G 11: 99,978,947 (GRCm39) C36R probably benign Het
Megf10 G A 18: 57,410,177 (GRCm39) G653S probably damaging Het
Mpp3 G T 11: 101,914,193 (GRCm39) S134* probably null Het
Msh6 G T 17: 88,293,609 (GRCm39) R788L probably damaging Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Naip5 T C 13: 100,359,902 (GRCm39) I445V probably benign Het
Naip5 T C 13: 100,359,883 (GRCm39) E451G probably benign Het
Nlrp1b T C 11: 71,047,126 (GRCm39) probably benign Het
Npy1r T C 8: 67,157,502 (GRCm39) F271L possibly damaging Het
Or13p3 C T 4: 118,567,351 (GRCm39) T249I probably damaging Het
Or1o2 T A 17: 37,543,121 (GRCm39) I47F probably damaging Het
Pcdhga5 A G 18: 37,828,167 (GRCm39) E205G possibly damaging Het
Pdgfc A G 3: 81,048,858 (GRCm39) T89A probably damaging Het
Pecr A G 1: 72,298,530 (GRCm39) F297L probably benign Het
Pgr15l G T X: 96,120,747 (GRCm39) R181M probably damaging Het
Pomgnt1 G A 4: 116,011,325 (GRCm39) R230H probably damaging Het
Ppm1d T C 11: 85,227,993 (GRCm39) I303T probably damaging Het
Ptprc T G 1: 137,992,511 (GRCm39) Q1205H probably damaging Het
Rnf112 A T 11: 61,341,011 (GRCm39) probably benign Het
Slc25a13 T A 6: 6,109,288 (GRCm39) Q358L probably damaging Het
Slc25a19 A G 11: 115,506,285 (GRCm39) Y303H probably damaging Het
Sympk T C 7: 18,769,880 (GRCm39) F186L probably damaging Het
Tek A G 4: 94,692,549 (GRCm39) D219G probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Vmn2r29 C G 7: 7,243,011 (GRCm39) D500H 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCCCTGTGAAAGAGTTATGCC -3'
(R):5'- AGACCTCTTAAGACAATCTTTAGGAG -3'

Sequencing Primer
(F):5'- CTTGCCAGGTATCATACATTC -3'
(R):5'- ATCTTTAGGAGATTAGACGTTGAAAC -3'
Posted On 2015-03-25