|Institutional Source||Beutler Lab|
|Gene Name||tyrosine kinase with immunoglobulin-like and EGF-like domains 1|
|Synonyms||TIE, D430008P04Rik, tie-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4614 (G1)|
|Chromosomal Location||118471191-118490061 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 118479051 bp|
|Amino Acid Change||Tyrosine to Histidine at position 673 (Y673H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047421] [ENSMUST00000184261]|
|Predicted Effect||probably damaging
AA Change: Y673H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y673H
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.226|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in embryonic or neonatal lethality, hemorrhages, edema, increased vascular branching, and abnormal vascular endothelial cell development. Mice homozygous for a hypomorphic allele exhibit dilated and disorganized lymphatic vessel, edema, and hemorrhage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tie1||
(F):5'- TAGGAATGAACAGTCCCCATCC -3'
(R):5'- ACTCTAGAGTGACTGTGACTGAC -3'
(F):5'- TCTCACCATTGCCCAGAGTGG -3'
(R):5'- AGTGACTGTGACTGACCCCAC -3'