Nlk - SNV Details



 Gene Information 
Gene Name Nlk
Old Gene Names for Nlk Ai194375
Gene Description nemo like kinase [Source:MGI Symbol;Acc:MGI:1201387]
MGI phenotype Homozygotes for a targeted null mutation die either during late gestation or around 4-6 weeks, depending on background. Long survivors exhibit growth retardation, neurological abnormalities, and aberrant differentiation of bone marrow stromal cells.
Uniprot Name
CCDS Name
Gene GO
MAP kinase activity; negative regulation of Wnt signaling pathway; intracellular signal transduction; protein kinase activity; protein autophosphorylation; regulation of transcription
DNA-templated; cytoplasm; ubiquitin protein ligase binding; transferase activity
transferring phosphorus-containing groups; protein binding; peptidyl-threonine phosphorylation; Wnt signaling pathway; transforming growth factor beta receptor signaling pathway; nucleus; SH2 domain binding; magnesium ion binding; protein phosphorylation; MAPK cascade; protein tyrosine kinase activity; ATP binding; serine phosphorylation of STAT3 protein; transcription factor binding; protein serine/threonine kinase activity; transcription
DNA-templated
Homolog in other species NLK
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
HIGH
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000017376
Chromosome 11
Coordinate 78,626,701     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.55
G:V0.46
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02953
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.75
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved