Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01070:Mstn'

50197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mstn

Ensembl Gene

ENSMUSG00000026100

Gene Name

myostatin

Synonyms

Gdf8

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

53061640-53068079 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53061997 bp

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]

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	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078	V507I	probably benign	Het
Fam178b	C	T	1: 36,564,403	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Nrap	T	C	19: 56,329,084	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Mstn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Mstn	APN	1	53066530	missense	possibly damaging	0.65
IGL02009:Mstn	APN	1	53062150	splice site	probably benign
IGL02547:Mstn	APN	1	53064125	missense	probably benign	0.08
PIT4403001:Mstn	UTSW	1	53061785	missense	probably benign	0.00
R0499:Mstn	UTSW	1	53063984	missense	probably damaging	1.00
R0556:Mstn	UTSW	1	53064125	missense	probably benign	0.08
R0730:Mstn	UTSW	1	53061794	missense	possibly damaging	0.81
R1180:Mstn	UTSW	1	53064008	missense	possibly damaging	0.93
R1472:Mstn	UTSW	1	53061998	missense	probably damaging	0.99
R1659:Mstn	UTSW	1	53064077	nonsense	probably null
R1676:Mstn	UTSW	1	53062065	missense	probably benign	0.08
R1753:Mstn	UTSW	1	53066558	missense	probably damaging	1.00
R3852:Mstn	UTSW	1	53061971	missense	possibly damaging	0.78
R4773:Mstn	UTSW	1	53062108	missense	probably benign	0.18
R4938:Mstn	UTSW	1	53066423	missense	possibly damaging	0.90
R6000:Mstn	UTSW	1	53061669	start gained	probably benign
R6393:Mstn	UTSW	1	53066489	missense	probably benign	0.00
R6991:Mstn	UTSW	1	53061941	missense	probably benign	0.02
R7018:Mstn	UTSW	1	53064084	missense	possibly damaging	0.51
R7077:Mstn	UTSW	1	53064249	missense	probably benign	0.30
R7170:Mstn	UTSW	1	53066395	missense	probably damaging	1.00
R7300:Mstn	UTSW	1	53064080	missense	probably benign	0.13
R7486:Mstn	UTSW	1	53063969	missense	probably damaging	1.00
R8063:Mstn	UTSW	1	53066448	missense	probably benign	0.10

Posted On

2013-06-21