|Institutional Source||Beutler Lab|
|Gene Name||transforming growth factor, beta 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2105 (G1)|
|Chromosomal Location||86056745-86079041 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 86069769 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 165 (E165G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003687 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003687]|
|Predicted Effect||possibly damaging
AA Change: E165G
PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: E165G
|Predicted Effect||noncoding transcript
|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 protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Homozygous knockout mice for this gene exhibit cleft palate, delayed pulmonary development and neonatal death. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgfb3||
(F):5'- TTCTGCACACCTCGGGTAATG -3'
(R):5'- CCTCTAGGAAGGTCATAGACGG -3'
(F):5'- GGGTAATGCAGCCCTCTTAATGAC -3'
(R):5'- GGGGGTCCTCACTCACCATTC -3'