Incidental Mutation 'IGL02332:Nup133'
ID 288745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup133
Ensembl Gene ENSMUSG00000039509
Gene Name nucleoporin 133
Synonyms 4832420O05Rik, mermaid
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02332
Quality Score
Status
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124634571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1007 (L1007Q)
Ref Sequence ENSEMBL: ENSMUSP00000048084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]
AlphaFold Q8R0G9
Predicted Effect probably damaging
Transcript: ENSMUST00000044795
AA Change: L1007Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: L1007Q

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: ENSMUST00000213089
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,563,323 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,241,482 (GRCm39) Y1115F probably damaging Het
Adam29 T A 8: 56,324,775 (GRCm39) I560F probably damaging Het
Bivm T C 1: 44,167,880 (GRCm39) probably benign Het
Brinp1 C A 4: 68,823,121 (GRCm39) R24L probably benign Het
Cnga1 A G 5: 72,761,829 (GRCm39) Y562H probably damaging Het
Cr2 C A 1: 194,842,630 (GRCm39) Q256H probably benign Het
Dhcr7 A T 7: 143,396,865 (GRCm39) N119I probably damaging Het
Dio1 A T 4: 107,150,978 (GRCm39) Y169N probably damaging Het
Dmbt1 C T 7: 130,668,343 (GRCm39) probably benign Het
Eogt T G 6: 97,102,566 (GRCm39) H249P probably damaging Het
Ermard A C 17: 15,210,807 (GRCm39) probably null Het
Exoc4 T C 6: 33,226,175 (GRCm39) probably null Het
Fxr2 G T 11: 69,540,664 (GRCm39) probably null Het
Glyr1 G T 16: 4,836,817 (GRCm39) T443N probably damaging Het
Gm14137 T G 2: 119,005,807 (GRCm39) L122R probably damaging Het
Gm4845 C A 1: 141,184,335 (GRCm39) noncoding transcript Het
Gm8258 A G 5: 104,923,768 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,897,990 (GRCm39) R258H probably benign Het
Itga6 T G 2: 71,668,717 (GRCm39) L552R possibly damaging Het
Itgam T A 7: 127,684,846 (GRCm39) probably null Het
Itgb5 G T 16: 33,740,500 (GRCm39) E224* probably null Het
Itih4 C A 14: 30,609,817 (GRCm39) A49D probably damaging Het
Itpr2 A T 6: 146,328,040 (GRCm39) N64K probably damaging Het
Moap1 T C 12: 102,709,066 (GRCm39) Y161C probably benign Het
Mst1r G T 9: 107,785,025 (GRCm39) G228* probably null Het
Myo1g T C 11: 6,470,766 (GRCm39) D30G possibly damaging Het
Ndn T A 7: 61,998,573 (GRCm39) C140S probably damaging Het
Nek5 G T 8: 22,585,277 (GRCm39) Q367K probably benign Het
Nrdc A T 4: 108,858,185 (GRCm39) R52S probably damaging Het
Or51k2 T C 7: 103,596,127 (GRCm39) M118T probably damaging Het
Or5be3 T C 2: 86,864,556 (GRCm39) D3G probably benign Het
Or5d47 A T 2: 87,804,409 (GRCm39) L200Q probably damaging Het
P2rx2 T C 5: 110,489,671 (GRCm39) S116G probably benign Het
Pcdhb13 G A 18: 37,576,635 (GRCm39) V338M probably benign Het
Pdcl2 A T 5: 76,466,982 (GRCm39) Y70* probably null Het
Ppm1e T C 11: 87,122,568 (GRCm39) H463R probably benign Het
Ppm1f T A 16: 16,731,951 (GRCm39) C134S possibly damaging Het
Ppp2r3d A G 9: 101,057,602 (GRCm39) F180L possibly damaging Het
Pxn A G 5: 115,682,985 (GRCm39) S96G probably benign Het
Rasa4 G T 5: 136,124,453 (GRCm39) Q167H probably benign Het
Rfx8 T C 1: 39,757,640 (GRCm39) I43V possibly damaging Het
Sez6 C T 11: 77,845,568 (GRCm39) probably benign Het
Slc39a6 A T 18: 24,722,880 (GRCm39) D473E probably benign Het
Spocd1 A G 4: 129,842,885 (GRCm39) D68G probably damaging Het
Syt13 T C 2: 92,771,149 (GRCm39) F79L probably benign Het
Tas2r103 A T 6: 133,013,475 (GRCm39) M197K probably benign Het
Tbrg4 A G 11: 6,568,492 (GRCm39) V429A probably damaging Het
Tuft1 A C 3: 94,523,075 (GRCm39) probably null Het
Uqcrc1 A G 9: 108,776,937 (GRCm39) T80A probably damaging Het
Vps18 A G 2: 119,124,291 (GRCm39) N406S probably benign Het
Xrn2 T A 2: 146,868,510 (GRCm39) W188R probably damaging Het
Zzef1 T G 11: 72,807,335 (GRCm39) S2738A 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
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
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
Posted On 2015-04-16