Incidental Mutation 'R8813:Nup133'
ID 672561
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 068648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8813 (G1)
Quality Score 217.468
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AAGAGA to AAGA at 124638627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change at position 900 (900)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably null
Transcript: ENSMUST00000044795
AA Change: 900
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: 900

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 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 96% (48/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 T C 2: 122,482,622 (GRCm39) L62P probably damaging Het
Amotl2 T G 9: 102,607,291 (GRCm39) S700A probably damaging Het
Ccdc7a A G 8: 129,549,942 (GRCm39) S1259P possibly damaging Het
Cenpj C T 14: 56,790,355 (GRCm39) E565K probably damaging Het
Clmp C T 9: 40,692,549 (GRCm39) R273* probably null Het
Cops7b A T 1: 86,528,846 (GRCm39) Q191L probably benign Het
Cyp2c23 A G 19: 44,002,054 (GRCm39) F312L probably benign Het
Dgkd G A 1: 87,843,266 (GRCm39) C169Y probably damaging Het
Dlec1 A T 9: 118,956,498 (GRCm39) N724I probably benign Het
Dmxl1 T C 18: 50,090,406 (GRCm39) V2831A probably damaging Het
Dnah5 G T 15: 28,229,719 (GRCm39) G118W probably damaging Het
Dnah6 G T 6: 73,104,937 (GRCm39) T1884K probably damaging Het
Dnai4 T C 4: 102,947,697 (GRCm39) E193G possibly damaging Het
Efnb2 T A 8: 8,670,731 (GRCm39) S290C probably damaging Het
Eif1ad6 A G 12: 87,668,593 (GRCm39) D75G probably damaging Het
Eif2ak4 C A 2: 118,278,806 (GRCm39) T990K probably damaging Het
Erich3 A G 3: 154,468,827 (GRCm39) D1093G unknown Het
H2-DMa T C 17: 34,354,734 (GRCm39) probably benign Het
Habp2 G A 19: 56,295,216 (GRCm39) D36N probably benign Het
Kcnk13 G T 12: 100,027,647 (GRCm39) G241W probably damaging Het
Kdm6b GGGTGGTGGTGGTGGTGG GGGTGGTGGTGGTGGTGGTGG 11: 69,297,655 (GRCm39) probably benign Het
Kdm6b TGG TGGGGG 11: 69,297,658 (GRCm39) probably benign Het
Klk1b5 G T 7: 43,496,549 (GRCm39) M160I probably benign Het
Lonp2 A G 8: 87,358,073 (GRCm39) Y98C probably damaging Het
Marcksl1 C T 4: 129,408,999 (GRCm39) P193S probably benign Het
Nxf7 G A X: 134,484,515 (GRCm39) R513C possibly damaging Het
Or13a19 C A 7: 139,902,793 (GRCm39) Y60* probably null Het
Or4a73 A T 2: 89,420,730 (GRCm39) M243K probably benign Het
Or52e5 T A 7: 104,719,518 (GRCm39) Y281* probably null Het
Or7g32 T G 9: 19,389,477 (GRCm39) D23A possibly damaging Het
Or7g34 A T 9: 19,477,895 (GRCm39) Y262N probably damaging Het
Otof T A 5: 30,540,242 (GRCm39) M965L probably benign Het
Parp12 A G 6: 39,073,508 (GRCm39) F439S probably damaging Het
Pde1a G A 2: 79,959,261 (GRCm39) probably benign Het
Pramel22 T A 4: 143,380,913 (GRCm39) N370I probably damaging Het
Prrc2c T C 1: 162,532,812 (GRCm39) N1268D unknown Het
Pter T C 2: 12,985,114 (GRCm39) V148A probably benign Het
Rb1 A G 14: 73,500,027 (GRCm39) M540T probably damaging Het
Rnasel T A 1: 153,629,641 (GRCm39) N52K probably damaging Het
Rragd A T 4: 33,012,953 (GRCm39) I317F possibly damaging Het
Sla G T 15: 66,664,127 (GRCm39) S81R probably benign Het
T A G 17: 8,653,532 (GRCm39) E57G probably benign Het
Tanc1 T A 2: 59,630,265 (GRCm39) F748L probably damaging Het
Tnxb T A 17: 34,938,136 (GRCm39) W3073R probably damaging Het
Trim33 A G 3: 103,254,052 (GRCm39) T967A probably benign Het
Tro G A X: 149,438,555 (GRCm39) S34L unknown Het
Trpm1 T A 7: 63,851,756 (GRCm39) M158K possibly damaging Het
Vmn1r205 A G 13: 22,776,424 (GRCm39) L226P probably benign Het
Vmn1r56 C T 7: 5,198,733 (GRCm39) V295M probably damaging Het
Vps13c A G 9: 67,778,566 (GRCm39) D208G probably damaging Het
Zfp11 T C 5: 129,735,278 (GRCm39) D61G probably benign Het
Zscan4e C A 7: 11,041,540 (GRCm39) E139* probably null 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
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
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'- CAGATTAATTAACCAGCTGCTTCTCG -3'
(R):5'- GAACTGCAAGGTGGCTTAGC -3'

Sequencing Primer
(F):5'- TCGTAAGCAAACCATCTTACCTTC -3'
(R):5'- GACCTGAGTCAGATTCTAGAGCCTC -3'
Posted On 2021-04-30