Mutagenetix > Incidental Mutation

Incidental Mutation 'R1180:Mstn'

101436

Institutional Source

Beutler Lab

Gene Symbol

Mstn

Ensembl Gene

ENSMUSG00000026100

Gene Name

myostatin

Synonyms

Gdf8

MMRRC Submission

039252-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R1180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53100799-53107238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53103167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 168 (T168S)

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: T168S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: T168S

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: T168S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140249
Gene: ENSMUSG00000026100
AA Change: T168S

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	13	188	1.3e-29	PFAM

Meta Mutation Damage Score

0.1141

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.5%

Validation Efficiency

98% (55/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,141 (GRCm39)	D281E	probably benign	Het
Adam24	T	G	8: 41,134,467 (GRCm39)	V645G	probably damaging	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Cadps	A	G	14: 12,457,836 (GRCm38)		probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Chd8	A	C	14: 52,458,565 (GRCm39)	S848A	probably damaging	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cpd	T	C	11: 76,692,579 (GRCm39)	T753A	possibly damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dock4	A	G	12: 40,690,413 (GRCm39)	E173G	possibly damaging	Het
EU599041	G	A	7: 42,875,731 (GRCm39)		noncoding transcript	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,805,570 (GRCm39)	Y630H	probably damaging	Het
Gprin3	C	A	6: 59,331,921 (GRCm39)	V129F	possibly damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hoxa3	A	C	6: 52,147,382 (GRCm39)	Y290*	probably null	Het
Htra4	G	T	8: 25,523,735 (GRCm39)	L277I	probably damaging	Het
Jak2	A	G	19: 29,259,899 (GRCm39)	Y266C	probably damaging	Het
Kif6	T	A	17: 50,139,284 (GRCm39)		probably benign	Het
Kiz	C	T	2: 146,811,927 (GRCm39)	R679C	unknown	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mipep	G	A	14: 61,071,505 (GRCm39)	V537I	probably damaging	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Mx2	G	A	16: 97,357,209 (GRCm39)	R434H	probably damaging	Het
Myh6	A	G	14: 55,181,925 (GRCm39)	I1792T	possibly damaging	Het
Myo16	T	C	8: 10,446,908 (GRCm39)	S450P	probably damaging	Het
Nherf4	T	A	9: 44,160,543 (GRCm39)	D284V	probably benign	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,874,825 (GRCm39)	V248E	probably benign	Het
Ranbp2	A	G	10: 58,301,285 (GRCm39)	Y646C	probably damaging	Het
Samsn1	C	T	16: 75,670,536 (GRCm39)	G189E	probably damaging	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Sfmbt2	C	T	2: 10,406,877 (GRCm39)	H59Y	probably damaging	Het
Shb	T	C	4: 45,423,996 (GRCm39)	I486V	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tk1	A	G	11: 117,712,921 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ube2q2	T	C	9: 55,102,700 (GRCm39)		probably benign	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	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
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'- AAGGGTTCCTTCCTCCAGACTGAC -3'
(R):5'- GCTGTTTGAGCCAATTTTGCAACAC -3'

Sequencing Primer
(F):5'- GCTAGAGCAACTATTTTCTCTGATG -3'
(R):5'- AACACTGTCTTCACATCAATACTCTG -3'

Posted On

2014-01-15