Incidental Mutation 'R7114:Nup133'
ID 551681
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 045244-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124642112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 784 (I784V)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000044795
AA Change: I784V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I784V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
PDB:1XKS|A 66 513 N/A PDB
Pfam:Nucleoporin_C 593 1052 1.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 (GRCm39) I690F probably damaging Het
Caln1 T C 5: 130,868,124 (GRCm39) V220A possibly damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Mocos C T 18: 24,799,572 (GRCm39) P269S probably damaging Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nedd9 A G 13: 41,492,099 (GRCm39) V137A probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt1 C T 2: 32,143,848 (GRCm39) T671I probably benign Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Snrpa A T 7: 26,891,174 (GRCm39) I99N probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) probably benign Het
Other mutations in Nup133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Nup133 APN 8 124,665,822 (GRCm39) missense probably damaging 0.98
IGL00507:Nup133 APN 8 124,645,706 (GRCm39) nonsense probably null
IGL00585:Nup133 APN 8 124,636,733 (GRCm39) missense probably damaging 1.00
IGL00676:Nup133 APN 8 124,633,037 (GRCm39) intron probably benign
IGL00966:Nup133 APN 8 124,638,645 (GRCm39) missense probably damaging 0.98
IGL01069:Nup133 APN 8 124,657,721 (GRCm39) nonsense probably null
IGL01553:Nup133 APN 8 124,642,063 (GRCm39) missense possibly damaging 0.58
IGL01669:Nup133 APN 8 124,665,869 (GRCm39) nonsense probably null
IGL01730:Nup133 APN 8 124,664,972 (GRCm39) missense probably benign 0.00
IGL01996:Nup133 APN 8 124,673,334 (GRCm39) missense probably benign 0.00
IGL02332:Nup133 APN 8 124,634,571 (GRCm39) missense probably damaging 1.00
IGL02552:Nup133 APN 8 124,655,994 (GRCm39) missense possibly damaging 0.75
IGL02956:Nup133 APN 8 124,675,822 (GRCm39) missense probably benign 0.00
IGL03009:Nup133 APN 8 124,660,239 (GRCm39) missense possibly damaging 0.46
IGL03036:Nup133 APN 8 124,673,333 (GRCm39) missense probably benign 0.11
Cadenza UTSW 8 124,638,627 (GRCm39) frame shift probably null
Gangen UTSW 8 124,643,021 (GRCm39) critical splice donor site probably null
hochzeit UTSW 8 124,656,082 (GRCm39) missense probably benign 0.00
low_road UTSW 8 124,631,318 (GRCm39) missense probably damaging 1.00
Pathway UTSW 8 124,644,185 (GRCm39) missense possibly damaging 0.82
Slant UTSW 8 124,643,020 (GRCm39) splice site probably null
R0010:Nup133 UTSW 8 124,631,318 (GRCm39) missense probably damaging 1.00
R0010:Nup133 UTSW 8 124,631,318 (GRCm39) missense probably damaging 1.00
R0139:Nup133 UTSW 8 124,656,082 (GRCm39) missense probably benign 0.00
R0344:Nup133 UTSW 8 124,644,185 (GRCm39) missense possibly damaging 0.82
R0730:Nup133 UTSW 8 124,675,747 (GRCm39) missense probably benign 0.00
R1301:Nup133 UTSW 8 124,644,156 (GRCm39) intron probably benign
R1453:Nup133 UTSW 8 124,642,114 (GRCm39) missense probably benign 0.00
R1570:Nup133 UTSW 8 124,675,915 (GRCm39) start codon destroyed possibly damaging 0.82
R1607:Nup133 UTSW 8 124,675,774 (GRCm39) missense probably benign 0.02
R1773:Nup133 UTSW 8 124,657,722 (GRCm39) nonsense probably null
R1992:Nup133 UTSW 8 124,632,960 (GRCm39) missense possibly damaging 0.80
R2062:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R2065:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R2066:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R2068:Nup133 UTSW 8 124,641,314 (GRCm39) missense probably damaging 1.00
R4397:Nup133 UTSW 8 124,671,040 (GRCm39) missense probably benign 0.04
R4683:Nup133 UTSW 8 124,657,721 (GRCm39) nonsense probably null
R4771:Nup133 UTSW 8 124,656,137 (GRCm39) missense probably damaging 1.00
R4910:Nup133 UTSW 8 124,653,870 (GRCm39) missense possibly damaging 0.91
R4911:Nup133 UTSW 8 124,653,870 (GRCm39) missense possibly damaging 0.91
R4968:Nup133 UTSW 8 124,641,935 (GRCm39) missense probably benign 0.07
R5411:Nup133 UTSW 8 124,653,945 (GRCm39) missense probably benign
R5470:Nup133 UTSW 8 124,657,705 (GRCm39) missense probably benign 0.00
R5664:Nup133 UTSW 8 124,633,020 (GRCm39) missense probably benign 0.01
R5907:Nup133 UTSW 8 124,643,038 (GRCm39) missense possibly damaging 0.90
R6003:Nup133 UTSW 8 124,665,031 (GRCm39) missense probably damaging 0.98
R6059:Nup133 UTSW 8 124,641,335 (GRCm39) missense probably damaging 1.00
R6219:Nup133 UTSW 8 124,663,612 (GRCm39) missense possibly damaging 0.90
R6292:Nup133 UTSW 8 124,644,176 (GRCm39) missense probably benign 0.01
R6672:Nup133 UTSW 8 124,643,020 (GRCm39) splice site probably null
R6737:Nup133 UTSW 8 124,633,030 (GRCm39) missense probably damaging 0.99
R6763:Nup133 UTSW 8 124,671,017 (GRCm39) missense possibly damaging 0.95
R6870:Nup133 UTSW 8 124,626,246 (GRCm39) missense probably benign 0.08
R6975:Nup133 UTSW 8 124,642,057 (GRCm39) missense probably damaging 0.99
R7101:Nup133 UTSW 8 124,632,966 (GRCm39) missense possibly damaging 0.89
R7271:Nup133 UTSW 8 124,649,153 (GRCm39) missense probably benign 0.34
R7501:Nup133 UTSW 8 124,649,153 (GRCm39) missense probably benign 0.34
R8054:Nup133 UTSW 8 124,675,956 (GRCm39) intron probably benign
R8397:Nup133 UTSW 8 124,649,156 (GRCm39) missense probably benign 0.17
R8703:Nup133 UTSW 8 124,643,021 (GRCm39) critical splice donor site probably null
R8811:Nup133 UTSW 8 124,638,627 (GRCm39) frame shift probably null
R8813:Nup133 UTSW 8 124,638,627 (GRCm39) frame shift probably null
R8952:Nup133 UTSW 8 124,634,500 (GRCm39) missense probably damaging 1.00
R9116:Nup133 UTSW 8 124,660,155 (GRCm39) missense probably benign 0.00
R9340:Nup133 UTSW 8 124,664,881 (GRCm39) missense probably benign 0.38
X0023:Nup133 UTSW 8 124,636,727 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCAGCTCGGATCTTTTCTG -3'
(R):5'- TCTCCACTGAGAAGGAGATGG -3'

Sequencing Primer
(F):5'- GCAGGTACTCCACTTCCAGACTG -3'
(R):5'- GGCAGAGCAGGTGTCAC -3'
Posted On 2019-05-15