Incidental Mutation 'IGL02547:Mstn'
ID 297871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mstn
Ensembl Gene ENSMUSG00000026100
Gene Name myostatin
Synonyms Gdf8
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # IGL02547
Quality Score
Status
Chromosome 1
Chromosomal Location 53100799-53107238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53103284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 207 (I207F)
Ref Sequence ENSEMBL: ENSMUSP00000027269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027269] [ENSMUST00000191197]
AlphaFold O08689
PDB Structure 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 probably benign
Transcript: ENSMUST00000027269
AA Change: I207F

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: I207F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TGFb_propeptide 38 266 1.3e-30 PFAM
TGFB 282 376 2.31e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191197
SMART Domains Protein: ENSMUSP00000140249
Gene: ENSMUSG00000026100

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 13 188 1.3e-29 PFAM
Meta Mutation Damage Score 0.1321 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,936,116 (GRCm39) L323Q probably damaging Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null Het
Other mutations in Mstn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Mstn APN 1 53,101,156 (GRCm39) missense possibly damaging 0.47
IGL01432:Mstn APN 1 53,105,689 (GRCm39) missense possibly damaging 0.65
IGL02009:Mstn APN 1 53,101,309 (GRCm39) splice site probably benign
PIT4403001:Mstn UTSW 1 53,100,944 (GRCm39) missense probably benign 0.00
R0499:Mstn UTSW 1 53,103,143 (GRCm39) missense probably damaging 1.00
R0556:Mstn UTSW 1 53,103,284 (GRCm39) missense probably benign 0.08
R0730:Mstn UTSW 1 53,100,953 (GRCm39) missense possibly damaging 0.81
R1180:Mstn UTSW 1 53,103,167 (GRCm39) missense possibly damaging 0.93
R1472:Mstn UTSW 1 53,101,157 (GRCm39) missense probably damaging 0.99
R1659:Mstn UTSW 1 53,103,236 (GRCm39) nonsense probably null
R1676:Mstn UTSW 1 53,101,224 (GRCm39) missense probably benign 0.08
R1753:Mstn UTSW 1 53,105,717 (GRCm39) missense probably damaging 1.00
R3852:Mstn UTSW 1 53,101,130 (GRCm39) missense possibly damaging 0.78
R4773:Mstn UTSW 1 53,101,267 (GRCm39) missense probably benign 0.18
R4938:Mstn UTSW 1 53,105,582 (GRCm39) missense possibly damaging 0.90
R6000:Mstn UTSW 1 53,100,828 (GRCm39) start gained probably benign
R6393:Mstn UTSW 1 53,105,648 (GRCm39) missense probably benign 0.00
R6991:Mstn UTSW 1 53,101,100 (GRCm39) missense probably benign 0.02
R7018:Mstn UTSW 1 53,103,243 (GRCm39) missense possibly damaging 0.51
R7077:Mstn UTSW 1 53,103,408 (GRCm39) missense probably benign 0.30
R7170:Mstn UTSW 1 53,105,554 (GRCm39) missense probably damaging 1.00
R7300:Mstn UTSW 1 53,103,239 (GRCm39) missense probably benign 0.13
R7486:Mstn UTSW 1 53,103,128 (GRCm39) missense probably damaging 1.00
R8063:Mstn UTSW 1 53,105,607 (GRCm39) missense probably benign 0.10
R8966:Mstn UTSW 1 53,105,641 (GRCm39) missense probably benign 0.00
R9009:Mstn UTSW 1 53,103,131 (GRCm39) nonsense probably null
R9564:Mstn UTSW 1 53,103,367 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16