Mutagenetix > Incidental Mutation

Incidental Mutation 'R0556:Mstn'

45532

Institutional Source

Beutler Lab

Gene Symbol

Mstn

Ensembl Gene

ENSMUSG00000026100

Gene Name

myostatin

Synonyms

Gdf8

MMRRC Submission

038748-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R0556 (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 53103284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 207 (I207F)

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: I207F

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: I207F

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

Meta Mutation Damage Score

0.1321

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,213 (GRCm39)	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,280,482 (GRCm39)		probably benign	Het
Acad11	A	G	9: 103,992,501 (GRCm39)	E481G	probably damaging	Het
Aldh1a1	A	T	19: 20,611,842 (GRCm39)	N389Y	probably damaging	Het
Bmpr2	C	T	1: 59,854,487 (GRCm39)	T112M	probably damaging	Het
Bms1	A	G	6: 118,390,140 (GRCm39)	Y227H	probably damaging	Het
Cab39	A	G	1: 85,763,212 (GRCm39)		probably benign	Het
Ccn3	A	T	15: 54,612,563 (GRCm39)	T191S	probably damaging	Het
Ccno	T	C	13: 113,124,820 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,610,270 (GRCm39)		probably benign	Het
Cd101	A	C	3: 100,927,970 (GRCm39)	I37S	probably damaging	Het
Ces1a	T	C	8: 93,771,740 (GRCm39)	H19R	probably benign	Het
Clec16a	A	G	16: 10,456,649 (GRCm39)		probably null	Het
Cntnap1	T	C	11: 101,074,822 (GRCm39)	F831S	probably benign	Het
Col24a1	A	G	3: 145,020,489 (GRCm39)	T287A	possibly damaging	Het
Colgalt2	C	T	1: 152,347,564 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,693,171 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,392,790 (GRCm39)	M145I	probably benign	Het
Ddx54	T	A	5: 120,757,719 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,833,426 (GRCm39)	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,494,544 (GRCm39)	Y127F	probably damaging	Het
Erap1	T	A	13: 74,808,444 (GRCm39)	V52E	probably damaging	Het
Fbxo6	G	T	4: 148,230,632 (GRCm39)	T210N	probably damaging	Het
Fcgbpl1	C	T	7: 27,858,803 (GRCm39)	H2308Y	probably benign	Het
Garre1	T	C	7: 33,939,222 (GRCm39)	T222A	probably damaging	Het
Gnat3	T	G	5: 18,224,596 (GRCm39)	V332G	probably damaging	Het
Ift22	T	A	5: 136,940,145 (GRCm39)		probably null	Het
Igkv4-71	A	G	6: 69,220,171 (GRCm39)	C109R	probably damaging	Het
Igsf10	A	G	3: 59,236,296 (GRCm39)	L1295P	probably benign	Het
Itga4	T	C	2: 79,155,983 (GRCm39)	I983T	probably benign	Het
Lhcgr	A	T	17: 89,079,491 (GRCm39)	V65D	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Morc2a	T	C	11: 3,631,809 (GRCm39)		probably null	Het
Morc2b	A	T	17: 33,356,812 (GRCm39)	M320K	probably benign	Het
Ms4a18	C	A	19: 10,991,065 (GRCm39)	V10F	probably damaging	Het
Mtor	A	G	4: 148,553,837 (GRCm39)	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,457,852 (GRCm39)	Y121C	probably damaging	Het
Or11g27	T	C	14: 50,771,381 (GRCm39)	S171P	probably benign	Het
Or4a66	A	C	2: 88,531,115 (GRCm39)	V186G	possibly damaging	Het
Or8b53	A	T	9: 38,667,041 (GRCm39)	D19V	possibly damaging	Het
Plcd3	G	A	11: 102,968,632 (GRCm39)	T353M	probably damaging	Het
Pnpla7	T	A	2: 24,942,313 (GRCm39)		probably null	Het
Ppp1r12b	T	A	1: 134,705,060 (GRCm39)	Y876F	probably damaging	Het
Prelid2	T	A	18: 42,084,245 (GRCm39)		probably benign	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Prr12	A	G	7: 44,680,093 (GRCm39)	L1887P	unknown	Het
Ptk2b	A	G	14: 66,409,593 (GRCm39)	L481P	probably damaging	Het
Rgl3	T	A	9: 21,887,140 (GRCm39)	K531*	probably null	Het
Sacs	A	G	14: 61,421,407 (GRCm39)	I115V	probably damaging	Het
Septin3	G	T	15: 82,167,966 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,673,160 (GRCm39)	S503P	probably benign	Het
Stard9	T	C	2: 120,529,404 (GRCm39)	V1887A	probably benign	Het
Synj2	T	A	17: 6,088,230 (GRCm39)	L1427*	probably null	Het
Taar2	A	G	10: 23,816,793 (GRCm39)	D111G	probably damaging	Het
Tlr5	A	G	1: 182,801,716 (GRCm39)	N340S	probably damaging	Het
Tmco2	A	G	4: 120,966,314 (GRCm39)	L14P	probably damaging	Het
Tnik	A	T	3: 28,679,367 (GRCm39)	D746V	possibly damaging	Het
Trip11	C	A	12: 101,850,777 (GRCm39)	E811*	probably null	Het
Ttll9	T	C	2: 152,815,526 (GRCm39)		probably null	Het
Uchl1	A	G	5: 66,839,824 (GRCm39)	E122G	probably benign	Het
Vwa3b	C	A	1: 37,203,566 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,452,482 (GRCm39)	N1533S	unknown	Het
Zfp687	G	T	3: 94,917,719 (GRCm39)	D684E	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
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

Predicted Primers

PCR Primer
(F):5'- CTAATGCAAGCGGATGGCAAGC -3'
(R):5'- TGGGTACACACCTACCTTTGGAGTAAG -3'

Sequencing Primer
(F):5'- ATGGCAAGCCCAAATGTTG -3'
(R):5'- ACCTTTGGAGTAAGATACTTTGTCTG -3'

Posted On

2013-06-11