|Institutional Source||Beutler Lab|
|Gene Name||transforming growth factor, beta 1|
|Synonyms||Tgfb, TGF-beta 1, TGFbeta1, Tgfb-1, TGF-beta1|
|Is this an essential gene?||Probably essential (E-score: 0.824)|
|Stock #||R2178 (G1)|
|Chromosomal Location||25687002-25705077 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 25704809 bp|
|Amino Acid Change||Asparagine to Serine at position 347 (N347S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002678 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002678]|
|Predicted Effect||probably damaging
AA Change: N347S
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N347S
|Coding Region Coverage||
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. Mice lacking a functional copy of this gene develop severe multifocal inflammatory disease, yolk sac defects and colon cancer. [provided by RefSeq, Aug 2016]
PHENOTYPE: Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgfb1||
(F):5'- GGCAAGAGAGCTAGTGATGT -3'
(R):5'- CTGTCACCTTTAATGGGCCC -3'
(F):5'- GCTAGTGATGTGGAGAGATACAG -3'
(R):5'- GTGCAGGTGTCCTTAAATACAGCC -3'