Incidental Mutation 'PIT4403001:Mstn'
ID 555443
Institutional Source Beutler Lab
Gene Symbol Mstn
Ensembl Gene ENSMUSG00000026100
Gene Name myostatin
Synonyms Gdf8
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # PIT4403001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 53100799-53107238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53100944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 7 (M7T)
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: M7T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: M7T

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
AA Change: M7T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140249
Gene: ENSMUSG00000026100
AA Change: M7T

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 13 188 1.3e-29 PFAM
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.9%
  • 20x: 73.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 T C 3: 138,129,939 (GRCm39) V255A probably damaging Het
Ahnak T C 19: 8,983,540 (GRCm39) I1608T possibly damaging Het
Atm A T 9: 53,412,282 (GRCm39) D955E probably benign Het
Cacybp A G 1: 160,033,764 (GRCm39) S113P probably damaging Het
Cenpu C T 8: 47,015,564 (GRCm39) P160S possibly damaging Het
Clstn3 C T 6: 124,434,982 (GRCm39) G348D probably damaging Het
Cmtr1 T G 17: 29,917,047 (GRCm39) probably null Het
Dlgap2 T C 8: 14,881,528 (GRCm39) S867P probably damaging Het
Fbn1 A T 2: 125,184,831 (GRCm39) C1654S probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Garnl3 A T 2: 32,880,770 (GRCm39) L874Q probably damaging Het
Gcm2 A G 13: 41,256,315 (GRCm39) V478A probably benign Het
Gm1527 T C 3: 28,972,134 (GRCm39) I417T possibly damaging Het
Grip1 A G 10: 119,765,833 (GRCm39) E55G probably damaging Het
Ighv1-4 A G 12: 114,450,824 (GRCm39) S95P probably damaging Het
Jak3 C T 8: 72,136,993 (GRCm39) T723I probably benign Het
Jup A G 11: 100,268,913 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,611 (GRCm39) L285S probably damaging Het
Kmt2b G A 7: 30,285,114 (GRCm39) P593S probably damaging Het
Matcap1 T C 8: 106,011,376 (GRCm39) N253D probably benign Het
Myh2 A T 11: 67,077,533 (GRCm39) K889N probably benign Het
Myo5a A G 9: 75,124,805 (GRCm39) T1787A probably damaging Het
Nlrp14 A T 7: 106,784,099 (GRCm39) Q607L possibly damaging Het
Ntf3 C T 6: 126,078,789 (GRCm39) R239Q probably damaging Het
Nup85 G T 11: 115,472,646 (GRCm39) R492L probably damaging Het
Ogfod3 A C 11: 121,087,561 (GRCm39) probably null Het
Or1j18 T A 2: 36,624,930 (GRCm39) I199K probably damaging Het
Or4c115 T A 2: 88,927,420 (GRCm39) M284L probably benign Het
Or4k40 A T 2: 111,251,165 (GRCm39) F44I probably benign Het
Or52h2 A G 7: 103,838,667 (GRCm39) V249A probably benign Het
Or8d1 T C 9: 38,766,676 (GRCm39) I106T probably benign Het
Oxct2a A T 4: 123,216,237 (GRCm39) D381E probably damaging Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pdgfc C T 3: 81,082,268 (GRCm39) P154S probably damaging Het
Phkg1 T C 5: 129,894,772 (GRCm39) T260A probably benign Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Plekhj1 C T 10: 80,632,293 (GRCm39) D150N unknown Het
Plppr1 T G 4: 49,337,648 (GRCm39) N316K probably benign Het
Pola2 A C 19: 6,009,074 (GRCm39) S95A possibly damaging Het
Polq G A 16: 36,880,949 (GRCm39) D1038N probably benign Het
Prim1 A T 10: 127,858,745 (GRCm39) I218L probably benign Het
Prkcz A G 4: 155,377,613 (GRCm39) probably null Het
Ptgr1 T C 4: 58,968,794 (GRCm39) K282E probably benign Het
Rbm5 A G 9: 107,637,535 (GRCm39) M132T probably damaging Het
Scn2a C T 2: 65,542,252 (GRCm39) T785M probably damaging Het
Setx A G 2: 29,023,967 (GRCm39) E141G probably damaging Het
Slc24a2 A G 4: 86,950,523 (GRCm39) F425L probably benign Het
Smarcc2 A T 10: 128,298,893 (GRCm39) H92L probably damaging Het
Tatdn1 C G 15: 58,777,596 (GRCm39) E220Q probably damaging Het
Tmc7 C A 7: 118,146,623 (GRCm39) Q488H probably benign Het
Tmc7 T G 7: 118,146,624 (GRCm39) Q488P possibly damaging Het
Tmem45b C T 9: 31,338,188 (GRCm39) D264N probably benign Het
Tmtc4 A C 14: 123,210,641 (GRCm39) S72R probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Ubac1 A T 2: 25,896,609 (GRCm39) M302K probably benign Het
Ubox5 A G 2: 130,442,597 (GRCm39) I30T probably damaging Het
Vwce A G 19: 10,615,461 (GRCm39) N114S possibly damaging Het
Xpo5 T A 17: 46,550,495 (GRCm39) D992E probably benign Het
Zfhx2 G A 14: 55,312,437 (GRCm39) P86S probably benign Het
Zfp335 T C 2: 164,735,636 (GRCm39) H1106R possibly damaging Het
Zfp653 T A 9: 21,977,053 (GRCm39) Q166L probably damaging Het
Zp3r T A 1: 130,510,609 (GRCm39) N436I possibly damaging 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
IGL02547:Mstn APN 1 53,103,284 (GRCm39) missense probably benign 0.08
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
Predicted Primers PCR Primer
(F):5'- TGACGACACTTGTCTCCTCTAAG -3'
(R):5'- ATGTTAGGAGCTGTTTCCAGGC -3'

Sequencing Primer
(F):5'- AGTTGGAATATAAAAAGCCACTTGG -3'
(R):5'- TTCTGGAGTACCTCGTGT -3'
Posted On 2019-06-07