Incidental Mutation 'R0730:Nup133'
ID 67473
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0730 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124675747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 57 (V57M)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000075578] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000044795
AA Change: V57M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: V57M

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: ENSMUST00000075578
SMART Domains Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974

DomainStartEndE-ValueType
Pfam:ABC_membrane 136 407 1.7e-60 PFAM
AAA 484 675 1.68e-18 SMART
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: ENSMUST00000212043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212356
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly 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
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
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'- AACGAGGGCCACCATTAAGCAG -3'
(R):5'- AATCGGGTCGCAGGACTCCAAATC -3'

Sequencing Primer
(F):5'- CATTAAGCAGCGACAATAAAACG -3'
(R):5'- TCAGGTGTTCAAGCTCCG -3'
Posted On 2013-09-03