|Institutional Source||Beutler Lab|
|Gene Name||nucleoporin 133|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2066 (G1)|
|Chromosomal Location||123897123-123949265 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 123914575 bp|
|Amino Acid Change||Aspartic acid to Tyrosine at position 869 (D869Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048084 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044795] [ENSMUST00000127664]|
|Predicted Effect||probably damaging
AA Change: D869Y
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: D869Y
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5513|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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||
|Other mutations in Nup133||
(F):5'- GCCCAACAAGACAATGTAATGTG -3'
(R):5'- AGTAGTGGGAGTCTCCTCTG -3'
(F):5'- ATGTGAAAATCTGTCATGTTCCCC -3'
(R):5'- TCTGGGGAGCCAGCAATG -3'