|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.473)|
|Stock #||R4938 (G1)|
|Chromosomal Location||53061640-53068079 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 53066423 bp|
|Amino Acid Change||Asparagine to Serine at position 308 (N308S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027269 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027269] [ENSMUST00000191197]|
Crystal structure of the myostatin:follistatin 288 complex [X-RAY DIFFRACTION]
Crystal Structure of the Myostatin:Follistatin-like 3 Complex [X-RAY DIFFRACTION]
|Predicted Effect||possibly damaging
AA Change: N308S
PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: N308S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4180|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
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 negatively regulates skeletal muscle cell proliferation and differentiation. Homozygous knockout mice for this gene exhibit increased muscle mass and bone density, and reduced adiposity. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit markedly increased size of striated muscle due to both hyperplasia and hypertrophy, reduced adiposity, and increased bone mineral density. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mstn||
(F):5'- AGGAAGGATTTCAGGCTCTATTTAC -3'
(R):5'- ACTACCATGGCTGGAATTTTCC -3'
(F):5'- TTCACACAGAATCCCTTTTTAGAAG -3'
(R):5'- GGAGACATTTTTGTCGGAGT -3'