Incidental Mutation 'IGL01070:Mstn'
ID 50197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mstn
Ensembl Gene ENSMUSG00000026100
Gene Name myostatin
Synonyms Gdf8
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.868) question?
Stock # IGL01070
Quality Score
Status
Chromosome 1
Chromosomal Location 53061640-53068079 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53061997 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 78 (I78L)
Ref Sequence ENSEMBL: ENSMUSP00000140249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027269] [ENSMUST00000191197]
AlphaFold O08689
Predicted Effect probably benign
Transcript: ENSMUST00000027269
AA Change: I78L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: I78L

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 possibly damaging
Transcript: ENSMUST00000191197
AA Change: I78L

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140249
Gene: ENSMUSG00000026100
AA Change: I78L

DomainStartEndE-ValueType
Pfam:TGFb_propeptide 13 188 1.3e-29 PFAM
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adamts5 T C 16: 85,863,133 H757R probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap3 A T 6: 126,865,879 E487V possibly damaging Het
Bicd2 T C 13: 49,378,316 S271P probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cma1 A G 14: 55,942,697 S71P probably benign Het
Cspp1 T C 1: 10,088,145 Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 K191R probably benign Het
Efr3a G A 15: 65,853,078 V507I probably benign Het
Fam178b C T 1: 36,564,403 R489Q possibly damaging Het
Kcnj4 A G 15: 79,484,579 L400P probably benign Het
Kif27 A G 13: 58,344,093 Y411H probably damaging Het
Nrap T C 19: 56,329,084 D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 Y467S probably damaging Het
Prkg1 G A 19: 30,569,343 probably benign Het
Rbfox1 A C 16: 7,306,443 S219R possibly damaging Het
Rfng T C 11: 120,783,952 N71D probably damaging Het
Rp1 T C 1: 4,345,238 I1884V probably damaging Het
Rptn T A 3: 93,398,176 Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 V322A probably benign Het
Shank3 T C 15: 89,549,416 S1455P probably damaging Het
Smc5 T A 19: 23,231,601 R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 probably null Het
Tecta T C 9: 42,395,003 D43G probably damaging Het
Tmem67 A T 4: 12,054,750 M685K probably benign Het
Trac A G 14: 54,220,766 T82A probably benign Het
Trank1 A G 9: 111,366,793 N1295S probably damaging Het
Ttc36 T C 9: 44,801,590 probably null Het
Utp18 A T 11: 93,869,848 S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 I714F probably benign Het
Vps54 T A 11: 21,312,268 V626D probably damaging Het
Wapl T C 14: 34,745,622 probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Mstn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Mstn APN 1 53066530 missense possibly damaging 0.65
IGL02009:Mstn APN 1 53062150 splice site probably benign
IGL02547:Mstn APN 1 53064125 missense probably benign 0.08
PIT4403001:Mstn UTSW 1 53061785 missense probably benign 0.00
R0499:Mstn UTSW 1 53063984 missense probably damaging 1.00
R0556:Mstn UTSW 1 53064125 missense probably benign 0.08
R0730:Mstn UTSW 1 53061794 missense possibly damaging 0.81
R1180:Mstn UTSW 1 53064008 missense possibly damaging 0.93
R1472:Mstn UTSW 1 53061998 missense probably damaging 0.99
R1659:Mstn UTSW 1 53064077 nonsense probably null
R1676:Mstn UTSW 1 53062065 missense probably benign 0.08
R1753:Mstn UTSW 1 53066558 missense probably damaging 1.00
R3852:Mstn UTSW 1 53061971 missense possibly damaging 0.78
R4773:Mstn UTSW 1 53062108 missense probably benign 0.18
R4938:Mstn UTSW 1 53066423 missense possibly damaging 0.90
R6000:Mstn UTSW 1 53061669 start gained probably benign
R6393:Mstn UTSW 1 53066489 missense probably benign 0.00
R6991:Mstn UTSW 1 53061941 missense probably benign 0.02
R7018:Mstn UTSW 1 53064084 missense possibly damaging 0.51
R7077:Mstn UTSW 1 53064249 missense probably benign 0.30
R7170:Mstn UTSW 1 53066395 missense probably damaging 1.00
R7300:Mstn UTSW 1 53064080 missense probably benign 0.13
R7486:Mstn UTSW 1 53063969 missense probably damaging 1.00
R8063:Mstn UTSW 1 53066448 missense probably benign 0.10
R8966:Mstn UTSW 1 53066482 missense probably benign 0.00
R9009:Mstn UTSW 1 53063972 nonsense probably null
R9564:Mstn UTSW 1 53064208 missense probably benign 0.01
Posted On 2013-06-21