Incidental Mutation 'R8397:Nup133'
ID 647661
Institutional Source Beutler Lab
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
MMRRC Submission 067760-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8397 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124649156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 562 (Q562L)
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: Q562L

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: Q562L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,767,141 (GRCm39) T499A probably benign Het
Ahsa1 G T 12: 87,320,451 (GRCm39) E311* probably null Het
Apol9a C T 15: 77,288,813 (GRCm39) V185I probably benign Het
Arhgap27 T A 11: 103,224,073 (GRCm39) D580V probably damaging Het
Arpp21 A C 9: 111,978,440 (GRCm39) S298A possibly damaging Het
B4galnt2 T A 11: 95,756,989 (GRCm39) T481S probably benign Het
Cct8 G A 16: 87,290,651 (GRCm39) R59C possibly damaging Het
Cdhr5 C T 7: 140,851,801 (GRCm39) G501E possibly damaging Het
Chka G A 19: 3,902,414 (GRCm39) probably null Het
Cit C A 5: 116,024,856 (GRCm39) N366K probably benign Het
Dennd4a A T 9: 64,796,391 (GRCm39) M806L probably benign Het
Dhx9 T A 1: 153,344,657 (GRCm39) H510L probably damaging Het
Esyt3 C T 9: 99,209,966 (GRCm39) V305I probably benign Het
Fbxo40 A T 16: 36,790,985 (GRCm39) C42S probably damaging Het
Fbxw26 T C 9: 109,561,715 (GRCm39) M160V probably damaging Het
Frem2 A G 3: 53,560,562 (GRCm39) V1315A probably benign Het
Gbp9 T A 5: 105,231,464 (GRCm39) N374I possibly damaging Het
Gm11992 T G 11: 9,011,305 (GRCm39) S249A probably damaging Het
Gm14418 T A 2: 177,079,086 (GRCm39) Q303L probably damaging Het
Hectd4 C A 5: 121,397,957 (GRCm39) P295Q probably damaging Het
Kdm2b T C 5: 123,018,579 (GRCm39) N954D probably benign Het
Klf15 C T 6: 90,443,778 (GRCm39) H118Y probably damaging Het
Lrit2 G T 14: 36,791,034 (GRCm39) A238S probably damaging Het
Man2c1 A C 9: 57,042,783 (GRCm39) M218L probably benign Het
Map3k1 T A 13: 111,892,138 (GRCm39) H1039L probably damaging Het
Map3k9 A G 12: 81,769,136 (GRCm39) S971P probably benign Het
Map4k3 C T 17: 80,971,446 (GRCm39) V74I probably damaging Het
Mars1 A T 10: 127,136,368 (GRCm39) S486T possibly damaging Het
Mettl13 A T 1: 162,371,887 (GRCm39) S327R possibly damaging Het
Mkks G A 2: 136,722,923 (GRCm39) T78M possibly damaging Het
Mst1 C T 9: 107,958,698 (GRCm39) probably benign Het
Myh1 G T 11: 67,112,465 (GRCm39) A1811S probably damaging Het
Myh13 A G 11: 67,241,113 (GRCm39) H830R possibly damaging Het
Nek4 A G 14: 30,692,505 (GRCm39) D443G possibly damaging Het
Nf1 T C 11: 79,438,518 (GRCm39) L137P probably damaging Het
Nipsnap3b T C 4: 53,012,049 (GRCm39) probably null Het
Nos1ap G T 1: 170,155,194 (GRCm39) P220T unknown Het
Nrxn3 T A 12: 90,298,583 (GRCm39) I368N probably benign Het
Nup214 T A 2: 31,880,266 (GRCm39) L342Q probably damaging Het
Nxn A G 11: 76,163,232 (GRCm39) S264P probably damaging Het
Or11g24 G T 14: 50,662,137 (GRCm39) D54Y probably damaging Het
Otud4 T C 8: 80,395,927 (GRCm39) S567P probably benign Het
Patl2 A C 2: 121,955,754 (GRCm39) S261A probably damaging Het
Pcdh15 C T 10: 74,126,865 (GRCm39) P315S probably damaging Het
Pcm1 T A 8: 41,736,616 (GRCm39) H827Q probably damaging Het
Pirb G A 7: 3,719,045 (GRCm39) L615F probably damaging Het
Ppp1r12c T A 7: 4,492,768 (GRCm39) H236L probably damaging Het
Prkd1 C T 12: 50,439,675 (GRCm39) G384E probably benign Het
Rmnd1 C A 10: 4,377,278 (GRCm39) E134* probably null Het
Rusc2 T A 4: 43,424,206 (GRCm39) H1090Q possibly damaging Het
Sema5b A C 16: 35,471,691 (GRCm39) Y428S possibly damaging Het
Slc2a8 T A 2: 32,866,010 (GRCm39) I301L probably benign Het
Slc38a11 C T 2: 65,160,635 (GRCm39) V320M probably damaging Het
Slc4a5 G T 6: 83,266,308 (GRCm39) probably null Het
Slc7a6 T C 8: 106,920,165 (GRCm39) I320T probably damaging Het
Slc8a3 A G 12: 81,246,542 (GRCm39) I837T probably benign Het
Spag1 C T 15: 36,197,895 (GRCm39) R286* probably null Het
Tlr3 A T 8: 45,851,896 (GRCm39) F334I possibly damaging Het
Unc13b A G 4: 43,217,290 (GRCm39) I530V probably benign Het
Vmn2r68 T C 7: 84,886,722 (GRCm39) D64G possibly damaging Het
Zfp157 T A 5: 138,454,518 (GRCm39) Y239N 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
R8054:Nup133 UTSW 8 124,675,956 (GRCm39) intron probably benign
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'- AGGGAAGGCTACCTTTAACTGC -3'
(R):5'- TTTGGACTGAAGCGTGTACATG -3'

Sequencing Primer
(F):5'- GAAGGCTACCTTTAACTGCTTGAGAC -3'
(R):5'- GAAGCGTGTACATGTGAATTTAGCC -3'
Posted On 2020-09-02