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; biological_process; protein serine/threonine kinase activity; molecular_function
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 66,287,701     (Assembly: GRCm38)    
Ref Base A
Codon Change aTa/aCa
Var Base G
Zygosity Heterozygous
Read Depth 69
Allele Frequency
A:R0.46
G:V0.54
Amino Acid Position 901
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL01365
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging
Sift Score 0.38
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved