Notch3 - SNV Details



 Human Rare Diseases 
CADASIL syndrome

 Gene Information 
Gene Name Notch3
Old Gene Names for Notch3 Aw229011
Gene Description notch 3 [Source:MGI Symbol;Acc:MGI:99460]
MGI phenotype Homozygous null mice are viable, fertile, and show no overt phenotype. Adult homozygous null mice for one allele display a small thymus and reduced thymocyte numbers.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; tissue regeneration; enzyme binding; transcription
DNA-dependent; membrane; neuron fate commitment; negative regulation of neuron differentiation; integral to membrane; positive regulation of smooth muscle cell proliferation; glomerular capillary formation; negative regulation of cell differentiation; integral to plasma membrane; protein binding; nucleus; regulation of transcription
DNA-dependent; Notch signaling pathway; forebrain development; plasma membrane; calcium ion binding; multicellular organismal development; regulation of developmental process
Homolog in other species NOTCH3
Omim http://omim.org/entry/600276
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000038146
Chromosome 17
Coordinate 32,158,638     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 28
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL02476
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.12
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved