Dcc - SNV Details



 Human Rare Diseases 
Familial congenital mirror movements

 Gene Information 
Gene Name Dcc
Old Gene Names for Dcc C030036d22rik
Gene Description deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]
MGI phenotype Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; netrin receptor activity; integral to membrane; apoptotic process; positive regulation of neuron projection development; netrin-activated signaling pathway; growth cone membrane; membrane raft; protein binding; dorsal/ventral axon guidance; positive regulation of ERK1 and ERK2 cascade; neuron migration; response to amphetamine; spinal cord ventral commissure morphogenesis; axon; axon guidance; plasma membrane; identical protein binding
Homolog in other species DCC
Omim http://omim.org/entry/120470
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000060534
Chromosome 18
Coordinate 71,370,737     (Assembly: GRCm38)    
Ref Base T
Codon Change gAt/gTt
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.53
A:V0.47
Amino Acid Position 950
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL01349
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000110593:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000110593 Superfamily 934
1043 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000110593 Pfam 946
1034 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000110593 Smart 945
1031 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000110593 Prosite_profiles 944
1041 Description available Search pathways

 Availability Details 
Availability Cryopreserved