Incidental Mutation 'IGL01996:Nup133'
ID 182916
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 # IGL01996
Quality Score
Status
Chromosome 8
Chromosomal Location 124623862-124676004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124673334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 66 (I66L)
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: I66L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: I66L

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: ENSMUST00000212043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212356
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,078,430 (GRCm39) V29A possibly damaging Het
Adarb1 A G 10: 77,158,051 (GRCm39) L132P probably damaging Het
Afg3l1 T G 8: 124,228,633 (GRCm39) M733R probably damaging Het
Aox1 C T 1: 58,121,225 (GRCm39) R899C probably benign Het
Arhgap44 T A 11: 64,896,322 (GRCm39) probably benign Het
Asns T C 6: 7,682,378 (GRCm39) D189G possibly damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Ccdc138 T A 10: 58,397,852 (GRCm39) L564H probably damaging Het
Ccdc167 A G 17: 29,924,461 (GRCm39) probably null Het
Ccdc178 A G 18: 22,230,813 (GRCm39) Y353H probably damaging Het
Clca3b A T 3: 144,554,924 (GRCm39) S41R probably benign Het
Dpep3 T C 8: 106,701,358 (GRCm39) N397S probably damaging Het
Eif1 T C 11: 100,211,826 (GRCm39) I83T probably benign Het
Enah A T 1: 181,784,070 (GRCm39) W80R unknown Het
F2rl1 C T 13: 95,650,432 (GRCm39) C150Y probably damaging Het
Fbxw24 T C 9: 109,434,440 (GRCm39) R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 (GRCm39) T68A probably benign Het
Greb1 T C 12: 16,740,846 (GRCm39) K1412R possibly damaging Het
Grin2b T C 6: 135,709,584 (GRCm39) S1321G probably damaging Het
H4c11 G A 13: 21,919,308 (GRCm39) G15S unknown Het
Itgb7 C T 15: 102,126,412 (GRCm39) G508D probably damaging Het
Kcnq3 A G 15: 65,895,545 (GRCm39) I333T probably damaging Het
Knl1 A G 2: 118,934,542 (GRCm39) D2115G probably damaging Het
Lmtk3 G A 7: 45,442,871 (GRCm39) probably null Het
Lrpprc A G 17: 85,080,698 (GRCm39) Y176H probably benign Het
Mier1 T C 4: 102,984,473 (GRCm39) S22P possibly damaging Het
Mme A T 3: 63,250,970 (GRCm39) N337I probably benign Het
Mthfd1 A G 12: 76,350,679 (GRCm39) Y687C probably damaging Het
Nrp2 T C 1: 62,788,419 (GRCm39) M373T probably damaging Het
Nudcd1 A T 15: 44,269,357 (GRCm39) F101Y probably benign Het
Or10j7 T C 1: 173,011,294 (GRCm39) T236A probably benign Het
Or11j4 T G 14: 50,631,116 (GRCm39) M301R probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Osbpl5 A G 7: 143,261,081 (GRCm39) probably null Het
Paqr8 T C 1: 21,005,628 (GRCm39) F261L probably damaging Het
Plxna2 A G 1: 194,482,084 (GRCm39) E1452G probably damaging Het
Polh T C 17: 46,483,927 (GRCm39) D446G probably benign Het
Psg19 A T 7: 18,523,986 (GRCm39) M353K possibly damaging Het
Sap25 T C 5: 137,640,080 (GRCm39) probably null Het
Sap30l C T 11: 57,700,777 (GRCm39) R144* probably null Het
Sema6b C T 17: 56,438,157 (GRCm39) V144M probably damaging Het
Sfmbt2 T C 2: 10,444,837 (GRCm39) Y228H probably benign Het
Shank2 A G 7: 143,965,230 (GRCm39) D946G probably damaging Het
Slc11a1 T A 1: 74,415,965 (GRCm39) L52Q possibly damaging Het
Sptlc3 T C 2: 139,423,424 (GRCm39) probably benign Het
Tgfb1i1 T C 7: 127,848,464 (GRCm39) probably benign Het
Tifa T C 3: 127,590,229 (GRCm39) probably benign Het
Tomm40l C T 1: 171,047,224 (GRCm39) V265M possibly damaging Het
Trim45 C A 3: 100,835,425 (GRCm39) Y469* probably null Het
Ttc21a G T 9: 119,787,182 (GRCm39) A730S probably damaging Het
Vmn1r18 A T 6: 57,367,001 (GRCm39) D184E possibly damaging Het
Vmn2r120 A T 17: 57,832,222 (GRCm39) I189N 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
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
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 2014-05-07