|Institutional Source||Beutler Lab|
|Gene Name||nucleoporin 153|
|Is this an essential gene?||Probably essential (E-score: 0.948)|
|Stock #||R6913 (G1)|
|Chromosomal Location||46679905-46727940 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 46699716 bp|
|Amino Acid Change||Serine to Arginine at position 548 (S548R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021803]|
|Predicted Effect||probably damaging
AA Change: S548R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S548R
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nup153||
(F):5'- TGGCTTTCACTGAAGGCAC -3'
(R):5'- TCAGAGACATGCCATACTGTTAATACC -3'
(F):5'- AGGCACTTTTAAGAATAAACAGAGG -3'
(R):5'- GCTGACTTCAAACTGGGCTCAAG -3'