|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0178 (G1)|
|Chromosomal Location||33923587-33937983 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 33924101 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 69 (D69G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128621 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000168727]|
|Predicted Effect||probably damaging
AA Change: D69G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D69G
|Meta Mutation Damage Score||0.2896|
|Coding Region Coverage||
|Validation Efficiency||95% (69/73)|
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 has been shown to promote neural repair after stroke and may act as a tumor suppressor. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdf10||
(F):5'- TGCTACAGAGAGCCAATCCCGATAC -3'
(R):5'- GCCCATCTCCATTCTGTGCCTAAAG -3'
(F):5'- CCTGCTCGGATCAGCTTG -3'
(R):5'- GTCCCAACTGCAAGCTCTG -3'