Incidental Mutation 'R6219:Nup133'
ID 503904
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 044351-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6219 (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 T at 124663612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 310 (D310E)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect possibly damaging
Transcript: ENSMUST00000044795
AA Change: D310E

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: D310E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212133
Meta Mutation Damage Score 0.3793 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik T C 4: 136,190,059 (GRCm39) S147P unknown Het
Acat2 T C 17: 13,179,604 (GRCm39) probably benign Het
Ano2 A G 6: 125,792,553 (GRCm39) D349G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ccnf C A 17: 24,445,678 (GRCm39) E523* probably null Het
Ccr10 C T 11: 101,065,375 (GRCm39) A52T possibly damaging Het
Cdc14b C T 13: 64,353,338 (GRCm39) probably benign Het
Cirop G T 14: 54,933,116 (GRCm39) Q356K noncoding transcript Het
Cmya5 T C 13: 93,230,951 (GRCm39) E1379G probably damaging Het
Cyfip1 A G 7: 55,558,189 (GRCm39) D822G possibly damaging Het
Cyp4a29 A C 4: 115,106,927 (GRCm39) T195P probably damaging Het
Dmxl1 A T 18: 50,035,434 (GRCm39) T2283S probably damaging Het
Dnah7b A G 1: 46,272,745 (GRCm39) D2291G probably benign Het
Dock3 T A 9: 106,872,080 (GRCm39) L493F probably damaging Het
Fbxw7 G A 3: 84,876,520 (GRCm39) G227D probably damaging Het
Fmo2 A T 1: 162,708,085 (GRCm39) V350D probably damaging Het
Glis1 C T 4: 107,489,102 (GRCm39) P487S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm35315 G T 5: 110,226,410 (GRCm39) T343K probably benign Het
Gpr141 A G 13: 19,936,697 (GRCm39) I26T probably benign Het
Hectd4 T G 5: 121,446,941 (GRCm39) V311G possibly damaging Het
Ino80d C T 1: 63,118,206 (GRCm39) E322K possibly damaging Het
Irs2 A G 8: 11,055,121 (GRCm39) S1104P probably damaging Het
Lama1 T C 17: 68,097,851 (GRCm39) F1744L probably benign Het
Lcn10 A T 2: 25,573,587 (GRCm39) R55* probably null Het
Lrp2 A T 2: 69,299,822 (GRCm39) C3077S probably damaging Het
Mdc1 T A 17: 36,161,566 (GRCm39) S826R probably benign Het
Nr2c1 G T 10: 93,999,648 (GRCm39) V103L probably benign Het
Or7c70 A G 10: 78,683,093 (GRCm39) S219P possibly damaging Het
Pip5k1b T A 19: 24,359,187 (GRCm39) E112D probably damaging Het
Pira12 A T 7: 3,897,640 (GRCm39) V485E probably damaging Het
Reln T C 5: 22,153,594 (GRCm39) K2237E probably damaging Het
Sirt2 A G 7: 28,466,940 (GRCm39) probably benign Het
Slit2 A T 5: 48,459,770 (GRCm39) H1350L possibly damaging Het
Snx15 A G 19: 6,171,538 (GRCm39) S179P probably damaging Het
Sp8 T G 12: 118,812,402 (GRCm39) S86A probably benign Het
Sptbn5 T C 2: 119,907,803 (GRCm39) probably benign Het
Tfap4 A G 16: 4,365,175 (GRCm39) S196P probably damaging Het
Tgm3 T C 2: 129,880,530 (GRCm39) probably null Het
Tnks2 T C 19: 36,843,604 (GRCm39) probably benign Het
Ttll11 A T 2: 35,642,511 (GRCm39) probably null Het
Vwa3b C A 1: 37,139,779 (GRCm39) Q367K possibly damaging Het
Zdhhc20 A T 14: 58,078,340 (GRCm39) V312E 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
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
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'- TGTTCAAACAAATGAGGCAGAC -3'
(R):5'- AGAGCCTGGGACAAGAATTC -3'

Sequencing Primer
(F):5'- CCAGCACTTGGGAAGCTGAG -3'
(R):5'- GCCTGGGACAAGAATTCTAGTC -3'
Posted On 2018-02-27