Incidental Mutation 'R8054:Nup133'
ID 619266
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 067491-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8054 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 124675956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000075578] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000044795
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,874,272 (GRCm39) N399S probably benign Het
Akap9 T C 5: 4,088,707 (GRCm39) probably null Het
Ankrd17 A G 5: 90,438,914 (GRCm39) I483T probably benign Het
Arl13b T C 16: 62,626,960 (GRCm39) D247G probably benign Het
Brca2 A G 5: 150,459,969 (GRCm39) I415V probably benign Het
Brpf3 C A 17: 29,055,571 (GRCm39) S1173R probably damaging Het
Cby2 A G 14: 75,821,339 (GRCm39) Y129H probably benign Het
Ccar1 A G 10: 62,583,215 (GRCm39) L966P unknown Het
Cfap61 A G 2: 145,815,438 (GRCm39) N249S probably damaging Het
Clip4 T A 17: 72,141,268 (GRCm39) Y541N possibly damaging Het
Csn2 C T 5: 87,845,886 (GRCm39) probably null Het
Cyp2c23 T G 19: 43,995,555 (GRCm39) E404A probably damaging Het
Cyp2e1 A G 7: 140,350,871 (GRCm39) E281G possibly damaging Het
Cyp2r1 T A 7: 114,151,319 (GRCm39) probably null Het
D430041D05Rik T A 2: 103,985,390 (GRCm39) I1226F possibly damaging Het
Dbx1 A T 7: 49,282,498 (GRCm39) W236R probably damaging Het
Dcp2 T G 18: 44,538,774 (GRCm39) N251K probably benign Het
Disp1 A T 1: 182,869,812 (GRCm39) Y869* probably null Het
Dnajc8 T A 4: 132,272,068 (GRCm39) probably benign Het
Efcab3 A G 11: 104,621,226 (GRCm39) N822D probably benign Het
Ehhadh A G 16: 21,592,243 (GRCm39) probably null Het
Eml3 A T 19: 8,916,414 (GRCm39) T670S possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 A T 2: 125,187,938 (GRCm39) D1530E possibly damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hsd3b3 A T 3: 98,649,331 (GRCm39) Y331N probably damaging Het
Ino80d T C 1: 63,097,837 (GRCm39) R791G possibly damaging Het
Itprid1 A T 6: 55,953,424 (GRCm39) K913N probably damaging Het
Jade2 T C 11: 51,709,441 (GRCm39) R523G probably benign Het
Kmt2d A T 15: 98,741,806 (GRCm39) D4451E unknown Het
Lax1 T C 1: 133,611,345 (GRCm39) T76A probably benign Het
Map4k1 A G 7: 28,689,181 (GRCm39) probably benign Het
Mcu G A 10: 59,290,817 (GRCm39) T121M probably damaging Het
Mepce T A 5: 137,783,004 (GRCm39) K441* probably null Het
Mettl21e C A 1: 44,245,815 (GRCm39) V144F probably damaging Het
Muc6 T A 7: 141,231,748 (GRCm39) S1049C probably damaging Het
Myh14 C T 7: 44,274,551 (GRCm39) V1246M probably damaging Het
Myo3a A T 2: 22,464,329 (GRCm39) Q1128L probably benign Het
Nat8f2 T C 6: 85,844,754 (GRCm39) S203G probably benign Het
Npas2 A G 1: 39,326,652 (GRCm39) T46A possibly damaging Het
Oplah C T 15: 76,190,457 (GRCm39) R102H probably benign Het
Or1x6 T A 11: 50,939,090 (GRCm39) I52N probably benign Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or5g29 A T 2: 85,421,184 (GRCm39) Q100L probably damaging Het
Or6d13 A G 6: 116,517,960 (GRCm39) H182R probably damaging Het
Or8g20 C A 9: 39,396,033 (GRCm39) C172F probably damaging Het
Osgep C T 14: 51,162,128 (GRCm39) probably benign Het
Pam A T 1: 97,768,114 (GRCm39) D705E probably damaging Het
Pkd1l3 C G 8: 110,373,008 (GRCm39) N1284K probably damaging Het
Plekhg2 A G 7: 28,064,741 (GRCm39) F407S probably damaging Het
Pygl A G 12: 70,274,113 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rhobtb1 A G 10: 69,084,720 (GRCm39) N37S probably damaging Het
Sema6a T A 18: 47,424,972 (GRCm39) D213V probably damaging Het
Skint11 A T 4: 114,101,806 (GRCm39) Q273L possibly damaging Het
Skint7 A T 4: 111,839,426 (GRCm39) H240L probably benign Het
Slc12a2 C T 18: 58,054,944 (GRCm39) Q862* probably null Het
Smox A G 2: 131,364,100 (GRCm39) S468G probably benign Het
Spc25 A G 2: 69,035,257 (GRCm39) S50P probably damaging Het
Srrm1 A T 4: 135,052,326 (GRCm39) S683T unknown Het
Syne1 T C 10: 5,220,970 (GRCm39) E3103G probably benign Het
Tenm4 C A 7: 96,378,553 (GRCm39) probably benign Het
Tent4b T A 8: 88,974,186 (GRCm39) I294N probably damaging Het
Tmem123 T C 9: 7,791,064 (GRCm39) S122P possibly damaging Het
Trav18 A T 14: 54,068,572 (GRCm39) K4I probably benign Het
Triml1 T C 8: 43,583,420 (GRCm39) S394G probably damaging Het
Ubr4 A T 4: 139,195,413 (GRCm39) S1212C unknown Het
Usp34 G A 11: 23,311,295 (GRCm39) R442Q Het
Usp43 G A 11: 67,782,284 (GRCm39) P378L probably damaging Het
Vmn1r212 A G 13: 23,067,935 (GRCm39) F133L probably benign Het
Vmn1r213 A G 13: 23,195,910 (GRCm39) I164M possibly damaging Het
Vmn2r19 C T 6: 123,292,998 (GRCm39) P347S probably damaging Het
Zfp106 A T 2: 120,355,000 (GRCm39) V1280E possibly damaging Het
Zfp317 T C 9: 19,553,265 (GRCm39) S13P probably benign Het
Zfp608 C A 18: 55,032,618 (GRCm39) A441S probably benign Het
Zup1 T C 10: 33,816,248 (GRCm39) D232G 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
R7501:Nup133 UTSW 8 124,649,153 (GRCm39) missense probably benign 0.34
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'- TACTTTCGAACTCTGCGGC -3'
(R):5'- TGACGTCAACAAAGCGCTCC -3'

Sequencing Primer
(F):5'- AACTCTGCGGCAGCTTAC -3'
(R):5'- AAAGCGCTCCCAGTTCCG -3'
Posted On 2020-01-23