Flt1 - SNV Details

 Gene Information 
Gene Name Flt1
Old Gene Names for Flt1 Ai323757 , Flt-1
Gene Description FMS-like tyrosine kinase 1 [Source:MGI Symbol;Acc:MGI:95558]
MGI phenotype Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage.
Uniprot Name
Gene GO
cell differentiation; growth factor binding; blood vessel morphogenesis; VEGF-A-activated receptor activity; protein kinase activity; vascular endothelial growth factor-activated receptor activity; protein autophosphorylation; activation of MAPKK activity; cytoplasm; VEGF-B-activated receptor activity; positive regulation of smooth muscle cell proliferation; positive regulation of MAP kinase activity; peptidyl-tyrosine phosphorylation; cellular response to vascular endothelial growth factor stimulus; positive regulation of MAPK cascade; transferase activity
transferring phosphorus-containing groups; positive regulation of cell migration; integral to plasma membrane; positive regulation of phospholipase C activity; angiogenesis; monocyte chemotaxis; response to hypoxia; positive regulation of phosphatidylinositol 3-kinase cascade; protein binding; regulation of smooth muscle contraction; nucleus; sprouting angiogenesis; endosome; cell migration; embryonic morphogenesis; patterning of blood vessels; positive regulation of phosphatidylinositol 3-kinase activity; protein phosphorylation; positive regulation of angiogenesis; protein tyrosine kinase activity; ATP binding; vascular endothelial growth factor signaling pathway; plasma membrane; identical protein binding; vascular endothelial growth factor receptor signaling pathway; intracellular receptor mediated signaling pathway; placental growth factor-activated receptor activity; positive regulation of vascular endothelial growth factor receptor signaling pathway; Golgi apparatus; vascular endothelial growth factor receptor-1 signaling pathway
Homolog in other species FLT1
Omim http://omim.org/entry/165070
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029648
Chromosome 5
Coordinate 147,683,889     (Assembly: GRCm38)    
Ref Base G
Codon Change caC/caA
Var Base T
Zygosity Heterozygous
Read Depth 47
Allele Frequency
Amino Acid Position 148
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL01973
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 58 Other Mutations

Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.04
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved