Incidental Mutation 'R7501:Nup133'
ID 581480
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 045574-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7501 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 124649153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 563 (I563S)
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: I563S

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I563S

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
Meta Mutation Damage Score 0.5781 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,142,974 (GRCm39) N503S probably benign Het
Adam1a C T 5: 121,657,011 (GRCm39) A761T possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Ankrd44 T C 1: 54,688,522 (GRCm39) E238G Het
Ap3b2 A T 7: 81,123,194 (GRCm39) I440K probably damaging Het
Atp2a1 G A 7: 126,049,344 (GRCm39) T566I probably benign Het
B3galnt1 T C 3: 69,482,632 (GRCm39) I210V probably benign Het
Bag5 T C 12: 111,676,722 (GRCm39) K367R probably benign Het
Cdc25b T C 2: 131,036,080 (GRCm39) Y410H probably damaging Het
Cgref1 G T 5: 31,102,800 (GRCm39) P7Q probably damaging Het
Cnot6 T C 11: 49,576,159 (GRCm39) I136V probably benign Het
Comp A G 8: 70,832,059 (GRCm39) D500G possibly damaging Het
Dnah7b T C 1: 46,395,714 (GRCm39) L3872P probably damaging Het
Dync2h1 A T 9: 7,175,336 (GRCm39) L91Q possibly damaging Het
Fancd2 T C 6: 113,525,364 (GRCm39) V280A possibly damaging Het
Fat4 T A 3: 39,012,597 (GRCm39) Y2297* probably null Het
Fem1c A T 18: 46,638,868 (GRCm39) M378K probably damaging Het
Gata6 A G 18: 11,054,082 (GRCm39) T4A probably damaging Het
Gatb G C 3: 85,544,297 (GRCm39) V422L probably damaging Het
Gfpt1 T A 6: 87,059,508 (GRCm39) D510E probably benign Het
Gria4 A T 9: 4,502,436 (GRCm39) Y366N probably benign Het
Gucy1b1 T C 3: 81,942,666 (GRCm39) H492R probably damaging Het
H2bc6 A G 13: 23,769,776 (GRCm39) I55T possibly damaging Het
Hecw2 T C 1: 53,953,031 (GRCm39) probably null Het
Hnrnph1 A C 11: 50,270,383 (GRCm39) E62D probably benign Het
Itga2 A G 13: 115,012,095 (GRCm39) V274A probably damaging Het
Kdm5d T A Y: 941,488 (GRCm39) W1230R probably damaging Het
Lctl A T 9: 64,038,861 (GRCm39) M317L probably benign Het
Lrp6 T C 6: 134,463,471 (GRCm39) D570G probably damaging Het
Lrrc9 G T 12: 72,496,490 (GRCm39) M39I probably damaging Het
Ltbp2 A T 12: 84,877,419 (GRCm39) I402N probably damaging Het
Mst1 G A 9: 107,959,748 (GRCm39) G297D probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nbr1 G A 11: 101,457,026 (GRCm39) R163Q probably damaging Het
Nlrp4f A G 13: 65,342,143 (GRCm39) F501L probably damaging Het
Oacyl T G 18: 65,858,369 (GRCm39) probably null Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Plxna2 C T 1: 194,326,203 (GRCm39) R46C possibly damaging Het
Ppp1r26 T A 2: 28,340,749 (GRCm39) D126E probably damaging Het
Prl6a1 A T 13: 27,500,282 (GRCm39) R84S possibly damaging Het
Ptprz1 C T 6: 23,001,746 (GRCm39) Q1279* probably null Het
Ptx4 C T 17: 25,344,166 (GRCm39) T472I possibly damaging Het
Rabgap1l A G 1: 160,528,358 (GRCm39) V416A probably damaging Het
Rbfox2 A T 15: 76,989,834 (GRCm39) D231E probably benign Het
Reln A T 5: 22,432,636 (GRCm39) F121L possibly damaging Het
Rfx7 G A 9: 72,524,054 (GRCm39) V415I probably benign Het
Scaf4 A T 16: 90,026,964 (GRCm39) M951K unknown Het
Sdf4 T C 4: 156,080,977 (GRCm39) probably null Het
Sec16a T C 2: 26,331,863 (GRCm39) T51A probably damaging Het
Sema3a A G 5: 13,607,008 (GRCm39) N281S probably damaging Het
Snai2 G A 16: 14,524,754 (GRCm39) V87I possibly damaging Het
Spata31f1e T C 4: 42,791,357 (GRCm39) E925G probably damaging Het
Synj2 T A 17: 6,040,514 (GRCm39) S197T possibly damaging Het
Syt6 A T 3: 103,495,018 (GRCm39) M328L probably benign Het
Tdrd12 A G 7: 35,177,516 (GRCm39) V946A unknown Het
Trat1 A T 16: 48,574,657 (GRCm39) probably null Het
Vmn1r75 T A 7: 11,614,997 (GRCm39) I243K possibly damaging Het
Vmn2r83 G A 10: 79,327,771 (GRCm39) C793Y probably damaging Het
Wnt9a G A 11: 59,219,583 (GRCm39) G203D probably damaging Het
Xrn2 T C 2: 146,871,676 (GRCm39) I366T probably damaging Het
Zfp280d A G 9: 72,269,224 (GRCm39) D787G possibly damaging Het
Zfp706 T C 15: 37,002,169 (GRCm39) T53A probably damaging 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
R7114:Nup133 UTSW 8 124,642,112 (GRCm39) missense probably benign 0.00
R7271: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'- GCTACCTTTAACTGCTTGAGACAC -3'
(R):5'- ACAGACCTTTGGACTGAAGCG -3'

Sequencing Primer
(F):5'- CTAAAAGTGTGCGGAGTGGTCAC -3'
(R):5'- AGACCTTTGGACTGAAGCGTGTAC -3'
Posted On 2019-10-17