Wnk1 - SNV Details



 Human Rare Diseases 
Pseudohypoaldosteronism type 2C
Hereditary sensory and autonomic neuropathy type 2

 Gene Information 
Gene Name Wnk1
Old Gene Names for Wnk1 Hsn2 , 6430573h23rik , Eg406236 , Prkwnk1
Gene Description WNK lysine deficient protein kinase 1 [Source:MGI Symbol;Acc:MGI:2442092]
MGI phenotype Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride.
Uniprot Name
CCDS Name
Gene GO
protein kinase activity; intracellular protein kinase cascade; cytoplasm; negative regulation of phosphatase activity; regulation of cellular process; transferase activity
transferring phosphorus-containing groups; negative regulation of pancreatic juice secretion; protein binding; phosphatase binding; positive regulation of systemic arterial blood pressure; ion transport; protein kinase inhibitor activity; protein phosphorylation; protein tyrosine kinase activity; ATP binding; protein serine/threonine kinase activity
Homolog in other species WNK1
Omim http://omim.org/entry/605232
Immgen Expression
HIGH
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045962
Chromosome 6
Coordinate 119,963,485     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.56
A:V0.44
Amino Acid Position 62
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL01951
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.88
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved