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 102,194,711     (Assembly: GRCm38)    
Ref Base A
Codon Change tTc/tAc
Var Base T
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.53
T:V0.47
Amino Acid Position 102
Amino Acid Change F->Y (Phenylalanine -> Tyrosine)
Sample ID IGL01942
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved