Lat2 - SNV Details



 Human Rare Diseases 
Williams syndrome

 Gene Information 
Gene Name Lat2
Old Gene Names for Lat2 Aw125574 , Wbscr5 , Wbscr15
Gene Description linker for activation of T cells family, member 2 [Source:MGI Symbol;Acc:MGI:1926479]
Uniprot Name
CCDS Name
Gene GO
B cell activation; intracellular signal transduction; mast cell degranulation; calcium-mediated signaling; membrane raft; protein binding; integral component of membrane; extracellular vesicular exosome; SH2 domain binding; plasma membrane; B cell receptor signaling pathway; mast cell granule
Homolog in other species LAT2
Omim http://omim.org/entry/604235
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC GROUP, NK GROUP)
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040751
Chromosome 5
Coordinate 134,602,591     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 67
Allele Frequency
A:R0.43
T:V0.57
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL03018
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.61
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved