Incidental Mutation 'R3852:Mstn'
| ID |
275945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mstn
|
| Ensembl Gene |
ENSMUSG00000026100 |
| Gene Name |
myostatin |
| Synonyms |
Gdf8 |
| MMRRC Submission |
040784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R3852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
53100799-53107238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53101130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 69
(T69I)
|
| 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: T69I
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: T69I
| 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: T69I
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140249
Gene: ENSMUSG00000026100
AA Change: T69I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGFb_propeptide
|
13 |
188 |
1.3e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,379,189 (GRCm39) |
V685A |
probably damaging |
Het |
| Abhd4 |
T |
C |
14: 54,502,824 (GRCm39) |
Y44H |
probably damaging |
Het |
| AI429214 |
A |
G |
8: 37,461,596 (GRCm39) |
D248G |
probably damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 109,862,773 (GRCm39) |
K193E |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,431,070 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,910 (GRCm39) |
V1841A |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,413,653 (GRCm39) |
Y186* |
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,251,092 (GRCm39) |
S406T |
probably benign |
Het |
| Gga3 |
T |
A |
11: 115,478,368 (GRCm39) |
T475S |
probably benign |
Het |
| Gm10271 |
T |
A |
10: 116,792,779 (GRCm39) |
K36* |
probably null |
Het |
| Gm572 |
G |
A |
4: 148,753,329 (GRCm39) |
E325K |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,751,181 (GRCm39) |
K126* |
probably null |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,641 (GRCm39) |
M345K |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,367,909 (GRCm39) |
V201A |
probably damaging |
Het |
| Lrrc8a |
C |
T |
2: 30,151,972 (GRCm39) |
T757M |
probably benign |
Het |
| Mios |
T |
A |
6: 8,216,453 (GRCm39) |
I459K |
probably benign |
Het |
| Mrps11 |
T |
C |
7: 78,440,393 (GRCm39) |
I94T |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,759 (GRCm39) |
S68T |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,779,712 (GRCm39) |
K28E |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,117,452 (GRCm39) |
S914P |
probably damaging |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,391 (GRCm39) |
S148P |
probably damaging |
Het |
| Or52b4 |
C |
A |
7: 102,184,487 (GRCm39) |
H178N |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,684,699 (GRCm39) |
Q389* |
probably null |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,689 (GRCm39) |
E602G |
probably damaging |
Het |
| Rusc2 |
C |
A |
4: 43,416,424 (GRCm39) |
Q577K |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,416,641 (GRCm39) |
M534K |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,888 (GRCm39) |
C274S |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trim43c |
T |
A |
9: 88,722,454 (GRCm39) |
H33Q |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,199,758 (GRCm39) |
I411K |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,785,368 (GRCm39) |
V669G |
possibly damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,548,026 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,997 (GRCm39) |
I217T |
probably 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 |
|
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 |
|
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 |
|
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'- CTGTTCATGCTGATTGCTGC -3'
(R):5'- TCTCATAAACACTAGGACAGCAGTC -3'
Sequencing Primer
(F):5'- CTGGCCCAGTGGATCTAAATG -3'
(R):5'- GATATACTTACACTCTGTAGGCATGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation