Nek1 - SNV Details



 Human Rare Diseases 
Short rib-polydactyly syndrome, Majewski type

 Gene Information 
Gene Name Nek1
Old Gene Names for Nek1 D8ertd790e
Gene Description NIMA (never in mitosis gene a)-related expressed kinase 1 [Source:MGI Symbol;Acc:MGI:97303]
MGI phenotype Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.
Uniprot Name
CCDS Name
Gene GO
response to ionizing radiation; protein kinase activity; mitotic nuclear division; cytoplasm; metal ion binding; peptidyl-tyrosine phosphorylation; transferase activity
transferring phosphorus-containing groups; cilium assembly; protein binding; nucleus; protein phosphorylation; pericentriolar material; protein tyrosine kinase activity; ATP binding; nucleolus; cellular response to DNA damage stimulus; protein serine/threonine kinase activity; centrosome; nuclear membrane
Homolog in other species NEK1
Omim http://omim.org/entry/604588
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN
MEDIAN
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031644
Chromosome 8
Coordinate 61,089,480     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.55
G:V0.45
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL02659
Median Base Quality 41
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.07
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved