|Institutional Source||Beutler Lab|
|Gene Name||latent transforming growth factor beta binding protein 1|
|Synonyms||b2b1000Clo, LTBP-1, 9430031G15Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6400 (G1)|
|Chromosomal Location||75005568-75392512 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 75151402 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 326 (Y326C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001927]|
|Predicted Effect||possibly damaging
AA Change: Y326C
PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: Y326C
|Meta Mutation Damage Score||0.0747|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ltbp1||
(F):5'- AAATGAGCCGTGTGTGGTAC -3'
(R):5'- AAAACCCTGCTGTCTGGTTG -3'
(F):5'- TTGACATTGAAAGCCCCGTG -3'
(R):5'- AAAACCCTGCTGTCTGGTTGTTTTAG -3'