Incidental Mutation 'R1453:Nup133'
ID 161609
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 039508-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1453 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124642114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 783 (I783T)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably benign
Transcript: ENSMUST00000044795
AA Change: I783T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I783T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213089
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,862,763 (GRCm39) I240M probably benign Het
Abcd3 A T 3: 121,558,710 (GRCm39) D595E probably damaging Het
Akap9 A G 5: 4,025,614 (GRCm39) probably null Het
Arpc1b A G 5: 145,062,555 (GRCm39) D223G probably damaging Het
Atp6ap1l T A 13: 91,046,866 (GRCm39) T104S probably benign Het
BC005537 T C 13: 24,989,969 (GRCm39) probably null Het
Ccdc9b T C 2: 118,587,903 (GRCm39) D477G possibly damaging Het
Chrdl2 T C 7: 99,666,197 (GRCm39) V39A possibly damaging Het
Clmp C G 9: 40,693,737 (GRCm39) S318W probably damaging Het
Cmas T C 6: 142,717,853 (GRCm39) S323P probably damaging Het
Cnksr3 T C 10: 7,079,132 (GRCm39) T80A probably benign Het
Ddx25 T C 9: 35,453,298 (GRCm39) Y484C probably damaging Het
Dennd6b A G 15: 89,073,075 (GRCm39) V154A probably damaging Het
Dmxl1 G A 18: 49,990,316 (GRCm39) V252I probably benign Het
Dnah2 T C 11: 69,341,876 (GRCm39) Y3003C probably damaging Het
Dnhd1 T C 7: 105,370,480 (GRCm39) probably null Het
Dppa4 G A 16: 48,111,596 (GRCm39) A194T probably damaging Het
Dst T C 1: 34,228,527 (GRCm39) V2218A possibly damaging Het
Dytn G C 1: 63,673,032 (GRCm39) S457C probably damaging Het
Fndc3a G A 14: 72,777,768 (GRCm39) Q1101* probably null Het
Focad A T 4: 88,275,679 (GRCm39) probably null Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gm5093 A G 17: 46,750,622 (GRCm39) F135S probably benign Het
Gmeb1 A T 4: 131,969,759 (GRCm39) D71E possibly damaging Het
Heatr5b G A 17: 79,124,992 (GRCm39) R587C probably damaging Het
Jakmip2 T C 18: 43,692,279 (GRCm39) probably null Het
Mier3 T A 13: 111,841,778 (GRCm39) L111Q probably damaging Het
Mrgprg G A 7: 143,318,779 (GRCm39) S111F possibly damaging Het
Mybl1 T C 1: 9,741,901 (GRCm39) K677R probably benign Het
Nhsl1 T C 10: 18,407,323 (GRCm39) S1486P probably damaging Het
Or10d4c A T 9: 39,558,459 (GRCm39) T146S probably benign Het
Or5an1c A T 19: 12,218,956 (GRCm39) I23K probably benign Het
Pigr A T 1: 130,769,281 (GRCm39) I31L probably benign Het
Plaat5 A G 19: 7,616,999 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel6 T A 2: 87,338,917 (GRCm39) M39K possibly damaging Het
Rapgef6 T A 11: 54,530,553 (GRCm39) probably null Het
Rinl T C 7: 28,496,329 (GRCm39) C437R probably damaging Het
Shank1 T C 7: 43,965,499 (GRCm39) S192P unknown Het
Slc2a10 A T 2: 165,359,570 (GRCm39) Y478F probably damaging Het
Slc37a3 A T 6: 39,343,877 (GRCm39) L12H probably damaging Het
Slit2 T A 5: 48,414,393 (GRCm39) C970S possibly damaging Het
Stard9 T C 2: 120,496,857 (GRCm39) S119P probably damaging Het
Stim2 C A 5: 54,273,451 (GRCm39) D568E probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf3 A G 12: 111,221,757 (GRCm39) E306G probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll6 T C 11: 96,049,714 (GRCm39) S811P possibly damaging Het
Ubr7 A G 12: 102,735,437 (GRCm39) K299E probably benign Het
Urb1 C A 16: 90,593,380 (GRCm39) V251L probably damaging Het
Vps13b G T 15: 35,422,590 (GRCm39) E183D probably damaging Het
Zfp35 T G 18: 24,136,557 (GRCm39) Y300* probably null Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp938 C T 10: 82,063,632 (GRCm39) 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
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'- CAATCAAGGGAACCTCCTGTGGTG -3'
(R):5'- TTCCTAGAGCAGTGAGGAAGCCTG -3'

Sequencing Primer
(F):5'- AGAGCAGCTCGGATCTTTTC -3'
(R):5'- AGGAAGCCTGATTTTCAGGTG -3'
Posted On 2014-03-14