Notch1 - SNV Details

 Gene Information 
Gene Name Notch1
Old Gene Names for Notch1 9930111a19rik , Tan1
Gene Description notch 1 [Source:MGI Symbol;Acc:MGI:97363]
Uniprot Name
Gene GO
cell differentiation; mesenchymal cell development; nucleoplasm; negative regulation of pro-B cell differentiation; regulation of epithelial cell proliferation; sequence-specific DNA binding; response to muramyl dipeptide; negative regulation of transcription
DNA-dependent; coronary vein morphogenesis; tissue regeneration; collecting duct development; response to lipopolysaccharide; positive regulation of JAK-STAT cascade; growth involved in heart morphogenesis; cardiac right atrium morphogenesis; positive regulation of epithelial cell proliferation; enzyme binding; negative regulation of glial cell proliferation; chromatin binding; humoral immune response; membrane; prostate gland epithelium morphogenesis; positive regulation of cardiac muscle cell proliferation; negative regulation of ossification; neuron fate commitment; Golgi membrane; spermatogenesis; negative regulation of neuron differentiation; integral to membrane; cardiac left ventricle morphogenesis; Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation; negative regulation of anoikis; receptor activity; positive regulation of transcription from RNA polymerase II promoter; astrocyte differentiation; vasculogenesis involved in coronary vascular morphogenesis; regulation of cell migration; somatic stem cell division; core promoter binding; cytoplasm; neural tube development; positive regulation of astrocyte differentiation; regulation of extracellular matrix assembly; positive regulation of apoptotic process; negative regulation of apoptotic process; cell fate specification; osteoblast fate commitment; epithelial to mesenchymal transition involved in endocardial cushion formation; liver development; positive regulation of transcription from RNA polymerase II promoter in response to hypoxia; cardiac muscle tissue morphogenesis; axonogenesis; endoplasmic reticulum membrane; hair follicle morphogenesis; keratinocyte differentiation; enzyme inhibitor activity; cardiac atrium morphogenesis; negative regulation of cell differentiation; atrioventricular node development; MAML1-RBP-Jkappa- ICN1 complex; cardiac vascular smooth muscle cell development; negative regulation of photoreceptor cell differentiation; auditory receptor cell fate commitment; negative regulation of BMP signaling pathway; atrioventricular valve morphogenesis; negative regulation of canonical Wnt receptor signaling pathway; positive regulation of keratinocyte differentiation; sequence-specific DNA binding transcription factor activity; positive regulation of cell migration; interleukin-4 secretion; regulation of neurogenesis; regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation; ventricular trabecula myocardium morphogenesis; branching morphogenesis of a tube; cell fate commitment; foregut morphogenesis; integral to plasma membrane; heart trabecula morphogenesis; negative regulation of cell death; regulation of gene expression; acrosomal vesicle; negative regulation of neurogenesis; negative regulation of calcium ion-dependent exocytosis; cardiac septum morphogenesis; endocardial cushion morphogenesis; negative regulation of myoblast differentiation; regulation of transcription from RNA polymerase II promoter; regulation of somitogenesis; protein binding; pericardium morphogenesis; glial cell differentiation; arterial endothelial cell differentiation; cell surface; left/right axis specification; aortic valve morphogenesis; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development; cardiac right ventricle formation; pulmonary valve morphogenesis; negative regulation of cell-substrate adhesion; nucleus; positive regulation of neuroblast proliferation; sprouting angiogenesis; endocardium morphogenesis; positive regulation of ephrin receptor signaling pathway; in utero embryonic development; glomerular mesangial cell development; cytosol; positive regulation of transcription
DNA-dependent; mitral valve formation; ventricular septum morphogenesis; oligodendrocyte differentiation; inflammatory response to antigenic stimulus; embryonic limb morphogenesis; endoderm development; neuronal stem cell maintenance; cardiac ventricle morphogenesis; lung development; epithelial to mesenchymal transition; cellular response to follicle-stimulating hormone stimulus; cell migration involved in endocardial cushion formation; determination of left/right symmetry; negative regulation of osteoblast differentiation; RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription; compartment pattern specification; regulation of cell adhesion involved in heart morphogenesis; Notch signaling pathway; extracellular region; negative regulation of transcription from RNA polymerase II promoter; positive regulation of endothelial cell differentiation; embryonic hindlimb morphogenesis; chromatin DNA binding; venous endothelial cell differentiation; neuron differentiation; forebrain development; cardiac chamber formation; plasma membrane; endocardium development; negative regulation of catalytic activity; positive regulation of transcription of Notch receptor target; cardiac muscle cell proliferation; endocardial cell differentiation; distal tubule development; negative regulation of oligodendrocyte differentiation; anagen; response to corticosteroid stimulus; organ regeneration; cell differentiation in spinal cord; heart development; negative regulation of myotube differentiation; Notch signaling involved in heart development; epidermis development; calcium ion binding; positive regulation of BMP signaling pathway; positive regulation of epithelial to mesenchymal transition; coronary artery morphogenesis; positive regulation of cell proliferation; multicellular organismal development; negative regulation of stem cell differentiation; cardiac epithelial to mesenchymal transition; regulation of epithelial cell proliferation involved in prostate gland development; regulation of developmental process; heart looping
Homolog in other species NOTCH1
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026923
Chromosome 2
Coordinate 26,460,396     (Assembly: GRCm38)    
Ref Base T
Codon Change gAg/gGg
Var Base C
Zygosity Heterozygous
Read Depth 22
Allele Frequency
Amino Acid Position 2244
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02066
Median Base Quality 36.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

Polyphen Score 0.84
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved