|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 6|
|Is this an essential gene?||Probably non essential (E-score: 0.229)|
|Stock #||R7383 (G1)|
|Chromosomal Location||9844372-9862345 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 9859537 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 206 (D206E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062884 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057613]|
|Predicted Effect||probably benign
AA Change: D206E
PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D206E
|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 each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mice lacking a functional copy of this gene exhibit joint and skeletal defects. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf6||
(F):5'- TCCGGAGACAGAAGTATTTGTTTG -3'
(R):5'- TGAACACTACAAGCAGGGC -3'
(F):5'- GATGTGTCCACACTCTCAGAC -3'
(R):5'- GAAGCCCAGACTCCGCAG -3'