Msl3l2,Tbc1d32 - SNV Details



 Gene Information 
Gene Name Msl3l2 , Tbc1d32
Old Gene Names for Msl3l2 1700060h10rik
Old Gene Names for Tbc1d32 D630037f22rik
Gene Description male-specific lethal 3-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1920640],RIKEN cDNA D630037F22 gene [Source:MGI Symbol;Acc:MGI:2442827]
MGI phenotype NO_PHENOTYPE,Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.
Uniprot Name
CCDS Name
Gene GO
nucleus; cellular_component; biological_process; molecular_function
cilium; cytoplasm; intracellular; Rab GTPase activator activity; cellular_component; biological_process; regulation of Rab GTPase activity; multicellular organismal development; molecular_function
Homolog in other species C6ORF170,NO_HOMOLOG
Immgen Expression
MEDIAN(LOW IN GN.BM),MEDIAN
Gnf Expression
LOW
LOW,NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047669
Chromosome 10
Coordinate 56,116,244     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gCc
Var Base C
Zygosity Heterozygous
Read Depth 55
Allele Frequency
T:R0.53
C:V0.47
Amino Acid Position 355
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01359
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Sift Score 0.03
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved