|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.396)|
|Stock #||R7018 (G1)|
|Chromosomal Location||53061640-53068079 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 53064084 bp|
|Amino Acid Change||Leucine to Glutamine at position 193 (L193Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027269 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027269] [ENSMUST00000191197]|
|Predicted Effect||possibly damaging
AA Change: L193Q
PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: L193Q
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
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'- GGGCCTGATGTCAGTCATTTTC -3'
(R):5'- AGTTATCACTTACCAGCCCATC -3'
(F):5'- AGCTGACTTTCTAATGCAAGCGG -3'
(R):5'- ATCTTCTCCTGGTCCTGGGAAG -3'