Dscaml1 - SNV Details



 Gene Information 
Gene Name Dscaml1
Old Gene Names for Dscaml1 4921507g06rik , 4930435c18rik , Bb239540
Gene Description Down syndrome cell adhesion molecule like 1 [Source:MGI Symbol;Acc:MGI:2150309]
MGI phenotype Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.
Uniprot Name
CCDS Name
Gene GO
dendrite self-avoidance; integral to membrane; homophilic cell adhesion; protein homodimerization activity; protein binding; cell surface; embryonic skeletal system morphogenesis; negative regulation of cell adhesion; plasma membrane; calcium-independent cell-cell adhesion; brain development
Homolog in other species DSCAML1
Omim http://omim.org/entry/611782
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000032087
Chromosome 9
Coordinate 45,744,328     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 17
Allele Frequency
C:R0.65
T:V0.35
Amino Acid Change Disrupted splicing
Splice Position 8
Sample ID IGL02604
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved