Incidental Mutation 'R4910:Nup133'
ID 439508
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 042512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4910 (G1)
Quality Score 220
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124653870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 530 (R530G)
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: R530G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: R530G

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 0.3832 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.6%
  • 20x: 86.1%
Validation Efficiency 95% (144/151)
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: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,435 (GRCm39) probably null Het
Adam3 T A 8: 25,184,321 (GRCm39) I560L probably benign Het
Agxt T C 1: 93,063,436 (GRCm39) F113L probably benign Het
Aknad1 T A 3: 108,688,568 (GRCm39) probably null Het
Alpk2 T A 18: 65,399,357 (GRCm39) K2074* probably null Het
Apob A G 12: 8,057,848 (GRCm39) Y2077C probably damaging Het
Arhgap17 A T 7: 122,907,600 (GRCm39) L254Q probably damaging Het
Arhgap26 T A 18: 39,126,690 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,249,762 (GRCm39) D171G probably benign Het
Arid1b T A 17: 5,392,478 (GRCm39) S2003T probably damaging Het
Armc5 T G 7: 127,839,900 (GRCm39) L406R possibly damaging Het
Arsb T C 13: 93,908,485 (GRCm39) V67A probably benign Het
Aspm A G 1: 139,419,281 (GRCm39) Y2982C probably damaging Het
Bltp1 C A 3: 37,052,348 (GRCm39) T3016K probably damaging Het
Btbd7 A G 12: 102,774,307 (GRCm39) L487P probably damaging Het
Card11 C G 5: 140,860,169 (GRCm39) D1063H probably damaging Het
Ccdc186 G A 19: 56,787,123 (GRCm39) T615M probably damaging Het
Cd101 T A 3: 100,901,205 (GRCm39) T960S probably benign Het
Cdca7l C A 12: 117,837,520 (GRCm39) S191* probably null Het
Cemip A T 7: 83,646,619 (GRCm39) I143N probably damaging Het
Cep170 C T 1: 176,609,829 (GRCm39) E161K possibly damaging Het
Cfhr4 T G 1: 139,702,301 (GRCm39) D61A probably damaging Het
Chrm2 A T 6: 36,501,168 (GRCm39) T342S probably benign Het
Cib2 A G 9: 54,457,163 (GRCm39) F34L probably benign Het
Cnot1 A T 8: 96,459,859 (GRCm39) I1836N probably benign Het
Col4a3 C A 1: 82,650,400 (GRCm39) P552Q unknown Het
Cp T A 3: 20,043,388 (GRCm39) probably benign Het
Cul3 C T 1: 80,267,806 (GRCm39) V112I probably benign Het
Dcdc5 A G 2: 106,195,895 (GRCm39) noncoding transcript Het
Disp1 A T 1: 182,917,027 (GRCm39) V133E probably damaging Het
Dlg4 A G 11: 69,921,751 (GRCm39) D30G probably damaging Het
Dop1a C T 9: 86,374,114 (GRCm39) T191I probably damaging Het
Enam T G 5: 88,650,173 (GRCm39) S561A probably benign Het
Fbxw8 G T 5: 118,263,092 (GRCm39) probably null Het
Filip1 A G 9: 79,725,214 (GRCm39) V1135A probably benign Het
Galnt6 T C 15: 100,614,059 (GRCm39) T81A probably benign Het
Ghdc T C 11: 100,657,814 (GRCm39) K472E probably benign Het
Gm10568 T G 1: 3,751,164 (GRCm39) noncoding transcript Het
Gm4953 T A 1: 158,995,929 (GRCm39) noncoding transcript Het
Gm6871 T A 7: 41,223,016 (GRCm39) H24L probably benign Het
Gpr155 G A 2: 73,197,882 (GRCm39) Q413* probably null Het
Grhl2 A G 15: 37,291,920 (GRCm39) probably null Het
Ighv1-31 G C 12: 114,793,128 (GRCm39) S36* probably null Het
Ighv8-5 A G 12: 115,031,462 (GRCm39) S26P probably damaging Het
Igkv17-134 A C 6: 67,697,910 (GRCm39) probably benign Het
Igkv5-48 A C 6: 69,703,833 (GRCm39) L24R probably damaging Het
Isg20l2 T A 3: 87,846,570 (GRCm39) V340E probably damaging Het
Lrrtm1 A G 6: 77,221,884 (GRCm39) Y447C probably damaging Het
Ltbp1 T C 17: 75,634,287 (GRCm39) S855P probably damaging Het
Mgat4e A T 1: 134,469,602 (GRCm39) N147K probably damaging Het
Mlc1 A G 15: 88,842,415 (GRCm39) L315P possibly damaging Het
Mrgpra2a A G 7: 47,076,292 (GRCm39) V322A probably benign Het
Mroh7 T C 4: 106,567,152 (GRCm39) probably null Het
Mybpc1 T A 10: 88,391,586 (GRCm39) K304* probably null Het
Nlrp14 A C 7: 106,785,790 (GRCm39) D622A possibly damaging Het
Nlrp1b T A 11: 71,108,103 (GRCm39) H466L probably benign Het
Nlrp4d T A 7: 10,112,336 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,227,130 (GRCm39) E628G possibly damaging Het
Nup98 A G 7: 101,845,007 (GRCm39) S21P unknown Het
Or2h2b-ps1 T C 17: 37,480,934 (GRCm39) I202V probably benign Het
Or2l13b T C 16: 19,348,768 (GRCm39) T301A probably benign Het
Or4f14b A T 2: 111,775,423 (GRCm39) I126K possibly damaging Het
Or52e8 G A 7: 104,624,686 (GRCm39) P169S possibly damaging Het
Or5k1 T A 16: 58,617,805 (GRCm39) T135S probably benign Het
Or6c66 T C 10: 129,461,676 (GRCm39) T85A probably damaging Het
Or8c11 T A 9: 38,290,038 (GRCm39) V287E probably null Het
Otog A T 7: 45,913,486 (GRCm39) Y773F probably damaging Het
Otog A T 7: 45,947,958 (GRCm39) I2320F probably damaging Het
Otogl T C 10: 107,715,378 (GRCm39) S433G probably benign Het
Pcdhb17 A T 18: 37,618,212 (GRCm39) M1L possibly damaging Het
Pde7b T A 10: 20,600,480 (GRCm39) probably benign Het
Pgm1 T C 4: 99,820,724 (GRCm39) V207A probably damaging Het
Pkd1 T A 17: 24,791,661 (GRCm39) V1116E probably damaging Het
Pkd1l1 T A 11: 8,879,360 (GRCm39) Y497F possibly damaging Het
Pomgnt2 T C 9: 121,812,013 (GRCm39) N256S probably benign Het
Pot1a A T 6: 25,746,020 (GRCm39) probably benign Het
Prdm9 T C 17: 15,764,585 (GRCm39) T732A probably benign Het
Prg4 T A 1: 150,331,574 (GRCm39) probably benign Het
Ptpro T C 6: 137,345,336 (GRCm39) V114A probably damaging Het
Pyurf A G 6: 57,668,933 (GRCm39) S20P unknown Het
Rasgrf1 A G 9: 89,858,805 (GRCm39) T488A probably benign Het
Rassf8 A T 6: 145,761,006 (GRCm39) K111* probably null Het
Reps1 A T 10: 17,983,436 (GRCm39) E426D probably damaging Het
Robo2 T C 16: 73,730,666 (GRCm39) K982R probably damaging Het
Rps23 T C 13: 91,071,871 (GRCm39) probably null Het
Scamp4 T A 10: 80,445,505 (GRCm39) V56E probably damaging Het
Serpina1c C T 12: 103,861,291 (GRCm39) V408I probably benign Het
Sigirr A G 7: 140,673,701 (GRCm39) W49R probably damaging Het
Slc17a6 A T 7: 51,308,489 (GRCm39) H271L possibly damaging Het
Slc7a5 G T 8: 122,611,861 (GRCm39) T389K probably damaging Het
Slf1 T A 13: 77,191,999 (GRCm39) H945L probably benign Het
Slit3 T C 11: 35,523,549 (GRCm39) S662P probably damaging Het
Snta1 C A 2: 154,218,938 (GRCm39) E466* probably null Het
Sowaha A G 11: 53,369,272 (GRCm39) L488P probably damaging Het
Spata17 C A 1: 186,926,208 (GRCm39) V41F probably damaging Het
Spta1 T A 1: 174,045,429 (GRCm39) probably null Het
Srrm2 T A 17: 24,034,362 (GRCm39) probably benign Het
Stard13 T C 5: 150,985,992 (GRCm39) N388S probably benign Het
Stmn3 T C 2: 180,950,630 (GRCm39) K59E probably damaging Het
Sval1 A G 6: 41,932,378 (GRCm39) N76S probably benign Het
Svep1 T C 4: 58,096,276 (GRCm39) H1448R possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Sytl5 C T X: 9,781,841 (GRCm39) P181L possibly damaging Het
Tbkbp1 G A 11: 97,029,956 (GRCm39) S400L probably benign Het
Tesc G T 5: 118,194,531 (GRCm39) probably benign Het
Tjp1 C T 7: 64,993,475 (GRCm39) G33R probably damaging Het
Tlr11 C A 14: 50,600,346 (GRCm39) F777L probably benign Het
Tmem156 A G 5: 65,248,805 (GRCm39) probably benign Het
Top3a A G 11: 60,643,204 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,694,584 (GRCm39) W162R probably damaging Het
Tpd52l2 A T 2: 181,157,005 (GRCm39) probably benign Het
Trim80 G A 11: 115,337,281 (GRCm39) G381D probably damaging Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null Het
Vmn2r56 T A 7: 12,449,462 (GRCm39) I259F possibly damaging Het
Vmn2r59 T C 7: 41,693,077 (GRCm39) T508A probably benign Het
Wdr73 A G 7: 80,541,456 (GRCm39) V362A probably damaging Het
Zdhhc21 G T 4: 82,738,568 (GRCm39) T207K possibly damaging Het
Zfp120 T A 2: 149,959,872 (GRCm39) Q150L probably damaging Het
Zfp212 C A 6: 47,908,433 (GRCm39) Q471K possibly damaging Het
Zfp804b C T 5: 6,820,540 (GRCm39) G841D possibly damaging Het
Znfx1 A T 2: 166,878,724 (GRCm39) M1884K probably damaging Het
Znfx1 G T 2: 166,879,402 (GRCm39) A1658D 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
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
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'- TGAGTTACACAGCAAGACCC -3'
(R):5'- TCTGGCTGTGTGATCTACCG -3'

Sequencing Primer
(F):5'- TGAGTTACACAGCAAGACCCATAAAG -3'
(R):5'- CGCAGGATCACCTTTCAGG -3'
Posted On 2016-11-08