|Institutional Source||Beutler Lab|
|Gene Name||nucleoporin 98|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7235 (G1)|
|Chromosomal Location||102119398-102210176 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 102125284 bp|
|Amino Acid Change||Threonine to Alanine at position 1515 (T1515A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148115 (fasta)|
|Predicted Effect||probably damaging
AA Change: T1515A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Meta Mutation Damage Score||0.2316|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nup98||
(F):5'- TCACCCCGAGTTGTCAATGTG -3'
(R):5'- TCTTACTAAGAAAGAGAATGGGCTG -3'
(F):5'- CCCGAGTTGTCAATGTGTAGGAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'