Lrrk1 - SNV Details



 Gene Information 
Gene Name Lrrk1
Old Gene Names for Lrrk1 Lrrk1 , Bc028450 , 5730590g19rik , Aw319595 , C230002e15rik , D130026o16rik
Gene Description leucine-rich repeat kinase 1 [Source:MGI Symbol;Acc:MGI:2142227]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; protein kinase activity; cytoplasm; metal ion binding; intracellular; transferase activity
transferring phosphorus-containing groups; small GTPase mediated signal transduction; protein binding; GTP binding; protein phosphorylation; protein tyrosine kinase activity; ATP binding; identical protein binding; biological_process; protein serine/threonine kinase activity
Homolog in other species LRRK1
Omim http://omim.org/entry/610986
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC GROUP, NK GROUP)
Gnf Expression
LOW/MEDIAN
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000015133
Chromosome 7
Coordinate 66,306,894     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.59
G:V0.38
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL03198
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved