Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Mstn'

545422

Institutional Source

Beutler Lab

Gene Symbol

Mstn

Ensembl Gene

ENSMUSG00000026100

Gene Name

myostatin

Synonyms

Gdf8

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53100799-53107238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53103243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 193 (L193Q)

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

possibly damaging
Transcript: ENSMUST00000027269
AA Change: L193Q

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: L193Q

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

0.3511

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 63,070,120 (GRCm39)	R129L	probably damaging	Het
Arhgef28	C	T	13: 98,101,943 (GRCm39)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,265,665 (GRCm39)	V1569A	probably damaging	Het
Atr	T	A	9: 95,748,747 (GRCm39)	S431T	probably benign	Het
Cdh11	T	C	8: 103,360,953 (GRCm39)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,967,130 (GRCm39)	S85P	probably benign	Het
Dip2c	T	A	13: 9,709,314 (GRCm39)	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,454,509 (GRCm39)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,461,795 (GRCm39)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,314,013 (GRCm39)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,919,546 (GRCm39)	D167G	probably damaging	Het
Gm5105	G	A	3: 137,755,319 (GRCm39)	T89I	unknown	Het
Grhl1	C	T	12: 24,625,996 (GRCm39)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,183,518 (GRCm39)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,029,661 (GRCm39)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,431,135 (GRCm39)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,275,985 (GRCm39)	Y51C	probably damaging	Het
Iqcj	T	A	3: 67,948,580 (GRCm39)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,366,178 (GRCm39)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,756,160 (GRCm39)	G129W	probably damaging	Het
Kcnq2	T	A	2: 180,723,517 (GRCm39)	R620*	probably null	Het
Klk13	C	A	7: 43,376,126 (GRCm39)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,012,488 (GRCm39)	M729L	probably benign	Het
Lyst	T	G	13: 13,918,044 (GRCm39)		probably null	Het
Med13l	G	A	5: 118,890,051 (GRCm39)	R1909H	probably damaging	Het
Mylk	T	C	16: 34,820,796 (GRCm39)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,647,233 (GRCm39)	M547L	probably damaging	Het
Nckap5	A	G	1: 125,952,785 (GRCm39)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Oosp3	T	A	19: 11,676,783 (GRCm39)	D47E	probably benign	Het
Or14j8	A	T	17: 38,263,393 (GRCm39)	I174N	probably damaging	Het
Or5d37	T	A	2: 87,923,600 (GRCm39)	I227F	probably benign	Het
Or5h25	A	G	16: 58,930,970 (GRCm39)	M1T	probably null	Het
Or5p66	T	G	7: 107,885,551 (GRCm39)	I261L	probably benign	Het
Pcdh15	G	T	10: 74,302,186 (GRCm39)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,840,625 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,711,838 (GRCm39)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plscr1	T	A	9: 92,146,715 (GRCm39)	V119D	probably damaging	Het
Prss56	A	T	1: 87,113,670 (GRCm39)	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,214,884 (GRCm39)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,037,159 (GRCm39)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,829,690 (GRCm39)	L85P	probably damaging	Het
Rptn	T	C	3: 93,305,207 (GRCm39)	C847R	possibly damaging	Het
Six4	T	A	12: 73,155,727 (GRCm39)	E413D	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,212,143 (GRCm39)	V1115A	probably damaging	Het
Spen	T	C	4: 141,220,755 (GRCm39)	K401E	unknown	Het
Srbd1	T	A	17: 86,443,843 (GRCm39)	R128W	possibly damaging	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627 (GRCm39)	T230P	probably benign	Het
Thumpd2	G	T	17: 81,363,326 (GRCm39)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,576,429 (GRCm39)	V141I	probably damaging	Het
Tmprss15	T	C	16: 78,821,741 (GRCm39)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,333,914 (GRCm39)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,523,610 (GRCm39)	W90R	probably benign	Het
Utp25	A	G	1: 192,797,163 (GRCm39)	I563T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,272,536 (GRCm39)		probably null	Het
Zfp646	C	A	7: 127,481,494 (GRCm39)	Q1224K	probably benign	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
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'- GGGCCTGATGTCAGTCATTTTC -3'
(R):5'- AGTTATCACTTACCAGCCCATC -3'

Sequencing Primer
(F):5'- AGCTGACTTTCTAATGCAAGCGG -3'
(R):5'- ATCTTCTCCTGGTCCTGGGAAG -3'

Posted On

2019-05-13