Incidental Mutation 'IGL02009:Mstn'
| ID |
182299 |
| 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)
|
| Stock # |
IGL02009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53100799-53107238 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 53101309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027269]
[ENSMUST00000191197]
|
| AlphaFold |
O08689 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027269
|
| SMART Domains |
Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
T |
C |
7: 66,051,789 (GRCm39) |
D388G |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
| Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
| Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
| Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
| Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
| Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
| Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
| Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
| Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
| Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
| Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
| Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
| Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
| Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,686 (GRCm39) |
F309L |
possibly damaging |
Het |
| Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
| Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
| Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,610,594 (GRCm39) |
S162P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,951,407 (GRCm39) |
K103E |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,722,447 (GRCm39) |
V479E |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
| Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,752 (GRCm39) |
D270G |
possibly damaging |
Het |
|
| Other mutations in Mstn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02547:Mstn
|
APN |
1 |
53,103,284 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
2014-05-07 |
Incidental Mutation