Dscam - SNV Details



 Gene Information 
Gene Name Dscam
Old Gene Names for Dscam 4932410a21rik
Gene Description Down syndrome cell adhesion molecule [Source:MGI Symbol;Acc:MGI:1196281]
MGI phenotype Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia.
Uniprot Name
CCDS Name
Gene GO
dendrite morphogenesis; dendrite self-avoidance; cell adhesion; post-embryonic retina morphogenesis in camera-type eye; protein binding; integral component of membrane; axon; positive regulation of phosphorylation; positive regulation of axon extension involved in axon guidance; growth cone; negative regulation of cell adhesion; plasma membrane; locomotory behavior
Homolog in other species DSCAM
Omim http://omim.org/entry/602523
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
LOW
MEDIAN(HIGH IN PITUITARY, AMYGDALA, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050272
Chromosome 16
Coordinate 96,820,769     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.56
T:V0.44
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL03191
Median Base Quality 33
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.22
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved