|Institutional Source||Beutler Lab|
|Gene Name||growth differentiation factor 10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2971 (G1)|
|Chromosomal Location||33923587-33937983 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 33924191 bp|
|Amino Acid Change||Arginine to Histidine at position 99 (R99H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128621 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000168727]|
|Predicted Effect||probably damaging
AA Change: R99H
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R99H
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
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'- ACCACCGTTACTCAGCCATG -3'
(R):5'- CTTGTCCCAACTGCAAGCTCTG -3'
(F):5'- GTCCTGCTCGGATCAGCTTG -3'
(R):5'- AAGCTCTGGCCTGGTTCAG -3'