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 |
|
| Essential gene? |
Probably essential
(E-score: 0.869)
|
| 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
| 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 |
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
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,863,133 (GRCm38) |
H757R |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,865,879 (GRCm38) |
E487V |
possibly damaging |
Het |
| Bicd2 |
T |
C |
13: 49,378,316 (GRCm38) |
S271P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm38) |
S162N |
probably damaging |
Het |
| Cma1 |
A |
G |
14: 55,942,697 (GRCm38) |
S71P |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,088,145 (GRCm38) |
Y494H |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,683,022 (GRCm38) |
K191R |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,853,078 (GRCm38) |
V507I |
probably benign |
Het |
| Fam178b |
C |
T |
1: 36,564,403 (GRCm38) |
R489Q |
possibly damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,484,579 (GRCm38) |
L400P |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,344,093 (GRCm38) |
Y411H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,329,084 (GRCm38) |
D1377G |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,271,272 (GRCm38) |
Y467S |
probably damaging |
Het |
| Prkg1 |
G |
A |
19: 30,569,343 (GRCm38) |
|
probably benign |
Het |
| Rbfox1 |
A |
C |
16: 7,306,443 (GRCm38) |
S219R |
possibly damaging |
Het |
| Rfng |
T |
C |
11: 120,783,952 (GRCm38) |
N71D |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,345,238 (GRCm38) |
I1884V |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,398,176 (GRCm38) |
Y939N |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,383,951 (GRCm38) |
V322A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,549,416 (GRCm38) |
S1455P |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,231,601 (GRCm38) |
R703W |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 30,014,173 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,395,003 (GRCm38) |
D43G |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,054,750 (GRCm38) |
M685K |
probably benign |
Het |
| Trac |
A |
G |
14: 54,220,766 (GRCm38) |
T82A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,366,793 (GRCm38) |
N1295S |
probably damaging |
Het |
| Ttc36 |
T |
C |
9: 44,801,590 (GRCm38) |
|
probably null |
Het |
| Utp18 |
A |
T |
11: 93,869,848 (GRCm38) |
S384T |
possibly damaging |
Het |
| Vmn1r64 |
C |
A |
7: 5,883,942 (GRCm38) |
A201S |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,061,607 (GRCm38) |
I714F |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,312,268 (GRCm38) |
V626D |
probably damaging |
Het |
| Wapl |
T |
C |
14: 34,745,622 (GRCm38) |
|
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Mstn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Mstn
|
APN |
1 |
53,066,530 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02009:Mstn
|
APN |
1 |
53,062,150 (GRCm38) |
splice site |
probably benign |
|
|
IGL02547:Mstn
|
APN |
1 |
53,064,125 (GRCm38) |
missense |
probably benign |
0.08 |
|
PIT4403001:Mstn
|
UTSW |
1 |
53,061,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0499:Mstn
|
UTSW |
1 |
53,063,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0556:Mstn
|
UTSW |
1 |
53,064,125 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0730:Mstn
|
UTSW |
1 |
53,061,794 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1180:Mstn
|
UTSW |
1 |
53,064,008 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1472:Mstn
|
UTSW |
1 |
53,061,998 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1659:Mstn
|
UTSW |
1 |
53,064,077 (GRCm38) |
nonsense |
probably null |
|
|
R1676:Mstn
|
UTSW |
1 |
53,062,065 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1753:Mstn
|
UTSW |
1 |
53,066,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3852:Mstn
|
UTSW |
1 |
53,061,971 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R4773:Mstn
|
UTSW |
1 |
53,062,108 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4938:Mstn
|
UTSW |
1 |
53,066,423 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6000:Mstn
|
UTSW |
1 |
53,061,669 (GRCm38) |
start gained |
probably benign |
|
|
R6393:Mstn
|
UTSW |
1 |
53,066,489 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6991:Mstn
|
UTSW |
1 |
53,061,941 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7018:Mstn
|
UTSW |
1 |
53,064,084 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7077:Mstn
|
UTSW |
1 |
53,064,249 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7170:Mstn
|
UTSW |
1 |
53,066,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7300:Mstn
|
UTSW |
1 |
53,064,080 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7486:Mstn
|
UTSW |
1 |
53,063,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8063:Mstn
|
UTSW |
1 |
53,066,448 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8966:Mstn
|
UTSW |
1 |
53,066,482 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9009:Mstn
|
UTSW |
1 |
53,063,972 (GRCm38) |
nonsense |
probably null |
|
|
R9564:Mstn
|
UTSW |
1 |
53,064,208 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-06-21 |
Incidental Mutation