|Institutional Source||Beutler Lab|
|Gene Name||FMS-like tyrosine kinase 1|
|Synonyms||Flt-1, VEGFR1, vascular endothelial growth factor receptor-1, sFlt1, VEGFR-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6539 (G1)|
|Chromosomal Location||147561604-147726011 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 147578376 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 1079 (K1079E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031653]|
|Predicted Effect||probably benign
AA Change: K1079E
PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: K1079E
|Meta Mutation Damage Score||0.0830|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Flt1||
(F):5'- GAATTCCTGCCACCTGACTCTG -3'
(R):5'- AACTGCAGGTGTTCTGGTTC -3'
(F):5'- ACCTGACTCTGCTGAGAATGG -3'
(R):5'- CAGGTGTTCTGGTTCTTCTGAAG -3'