Mutagenetix > Incidental Mutation

Incidental Mutation 'R7077:Mstn'

549253

Institutional Source

Beutler Lab

Gene Symbol

Mstn

Ensembl Gene

ENSMUSG00000026100

Gene Name

myostatin

Synonyms

Gdf8

MMRRC Submission

045172-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53100799-53107238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53103408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 248 (D248V)

Ref Sequence

ENSEMBL: ENSMUSP00000027269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027269] [ENSMUST00000191197]

AlphaFold

O08689

PDB Structure

Crystal structure of the myostatin:follistatin 288 complex [X-RAY DIFFRACTION]
Crystal Structure of the Myostatin:Follistatin-like 3 Complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000027269
AA Change: D248V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: D248V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,605,893 (GRCm39)	C623Y	probably damaging	Het
Ago3	T	C	4: 126,265,325 (GRCm39)	K322R	probably null	Het
Ankrd17	T	C	5: 90,433,723 (GRCm39)	H682R	possibly damaging	Het
Aoah	A	G	13: 21,094,276 (GRCm39)	D187G	probably damaging	Het
Arhgap17	T	C	7: 122,879,231 (GRCm39)	D840G	unknown	Het
AW551984	C	T	9: 39,502,723 (GRCm39)	V650I	probably benign	Het
Bok	T	A	1: 93,616,911 (GRCm39)	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,510,272 (GRCm39)	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,417,199 (GRCm39)	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,540,134 (GRCm39)	I977S	unknown	Het
Cobl	T	C	11: 12,203,441 (GRCm39)	N1087S	probably benign	Het
Cyp21a1	C	A	17: 35,021,333 (GRCm39)	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,561,490 (GRCm39)	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,269,580 (GRCm39)	I120S	probably damaging	Het
Enpp2	A	C	15: 54,764,787 (GRCm39)	D146E	probably benign	Het
Exosc9	T	C	3: 36,607,205 (GRCm39)	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,268,498 (GRCm39)	G300S	probably benign	Het
Focad	C	A	4: 88,328,914 (GRCm39)	A1709E	unknown	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fsip2	T	C	2: 82,813,496 (GRCm39)	F3272L	probably benign	Het
Gcnt2	G	A	13: 41,013,896 (GRCm39)	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928 (GRCm39)	E50G	probably damaging	Het
Gm10375	G	T	14: 43,840,427 (GRCm39)	T162K	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gm4924	T	C	10: 82,215,057 (GRCm39)	F952L	unknown	Het
Heatr1	T	C	13: 12,433,045 (GRCm39)	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,756 (GRCm39)	Y442H	unknown	Het
Hp1bp3	C	A	4: 137,966,929 (GRCm39)	T408N	probably damaging	Het
Htra3	A	G	5: 35,825,660 (GRCm39)	V198A	probably damaging	Het
Katnal1	T	C	5: 148,828,547 (GRCm39)	T300A	probably benign	Het
Lipo5	G	T	19: 33,445,170 (GRCm39)	P133Q		Het
Lrp1b	A	T	2: 41,660,858 (GRCm39)	H197Q		Het
Mdc1	C	A	17: 36,156,839 (GRCm39)	A82D	probably damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ola1	G	A	2: 72,972,308 (GRCm39)	T221I	probably damaging	Het
Or52z1	A	G	7: 103,436,593 (GRCm39)	I297T	probably damaging	Het
Or5t7	T	C	2: 86,507,236 (GRCm39)	Y147C	possibly damaging	Het
Or7e166	T	A	9: 19,624,428 (GRCm39)	S102T	probably benign	Het
Or8c20	T	A	9: 38,261,266 (GRCm39)	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,623,201 (GRCm39)	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,810,093 (GRCm39)	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,460,086 (GRCm39)	N190I	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,281,633 (GRCm39)	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,071,820 (GRCm39)	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,607,855 (GRCm39)	D501V	probably benign	Het
Smarcd3	G	T	5: 24,799,960 (GRCm39)	A270D	probably damaging	Het
Srgap2	A	G	1: 131,272,187 (GRCm39)	M33T		Het
Tle1	G	C	4: 72,076,612 (GRCm39)	P139A	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tsbp1	C	A	17: 34,659,856 (GRCm39)	T93N	possibly damaging	Het
Zfp658	T	A	7: 43,223,413 (GRCm39)	S563T	probably benign	Het
Zswim9	G	A	7: 12,993,679 (GRCm39)	R826C	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
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
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'- TGTGCAAATCCTGAGACTCATC -3'
(R):5'- CACCAAAGGTAGGTGTGTACTG -3'

Sequencing Primer
(F):5'- CAAGGTATACTGGAATCCGATCTCTG -3'
(R):5'- GTACTGTTTTGGGTACACACCTAC -3'

Posted On

2019-05-15