Nup98 - SNV Details



 Gene Information 
Gene Name Nup98
Old Gene Names for Nup98 Ai849286
Gene Description nucleoporin 98 [Source:MGI Symbol;Acc:MGI:109404]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; DNA replication; protein import into nucleus
docking; peptide binding; protein binding; nucleus; nuclear envelope; transport; kinetochore; nuclear pore
Homolog in other species NUP98
Omim http://omim.org/entry/601021
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063550
Chromosome 7
Coordinate 102,152,366     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 53
Allele Frequency
A:R0.36
G:V0.64
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02490
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 59 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved