Mutagenetix > Incidental Mutation

Incidental Mutation 'R6393:Mstn'

515839

Institutional Source

Beutler Lab

Gene Symbol

Mstn

Ensembl Gene

ENSMUSG00000026100

Gene Name

myostatin

Synonyms

Gdf8

MMRRC Submission

044542-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R6393 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53100799-53107238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53105648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 330 (Q330R)

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: Q330R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027269
Gene: ENSMUSG00000026100
AA Change: Q330R

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: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,690 (GRCm39)	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,721 (GRCm39)	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,894 (GRCm39)		probably null	Het
Akirin1	T	G	4: 123,637,324 (GRCm39)	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,723,406 (GRCm39)	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,354,498 (GRCm39)	I804V	probably damaging	Het
Arhgef28	A	T	13: 98,130,527 (GRCm39)	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 60,011,204 (GRCm39)	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Ccdc80	T	A	16: 44,916,828 (GRCm39)	V528D	possibly damaging	Het
Chd6	A	G	2: 160,821,407 (GRCm39)	Y1296H	probably damaging	Het
Chst13	G	A	6: 90,302,063 (GRCm39)	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,753,741 (GRCm39)	F207L	probably damaging	Het
Col12a1	T	C	9: 79,562,767 (GRCm39)	T1772A	probably damaging	Het
Cubn	T	C	2: 13,360,491 (GRCm39)	T1744A	probably benign	Het
Dchs2	A	G	3: 83,037,218 (GRCm39)	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,133,384 (GRCm39)	E6V	possibly damaging	Het
Dock5	G	A	14: 68,060,051 (GRCm39)	P463S	probably benign	Het
Eif4a3l1	A	G	6: 136,305,596 (GRCm39)	K19R	probably benign	Het
Fancd2	T	A	6: 113,555,374 (GRCm39)	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,355,634 (GRCm39)	G449E	probably damaging	Het
Frem2	G	T	3: 53,493,061 (GRCm39)	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,678,037 (GRCm39)	V187L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,838,142 (GRCm39)		probably null	Het
Htr1b	T	A	9: 81,513,810 (GRCm39)	I266F	probably benign	Het
Jakmip3	T	C	7: 138,620,900 (GRCm39)	I305T	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kifc5b	T	C	17: 27,140,816 (GRCm39)	C97R	probably benign	Het
Klhl30	A	T	1: 91,288,912 (GRCm39)	H557L	probably damaging	Het
Lama3	T	C	18: 12,612,813 (GRCm39)	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,459,292 (GRCm39)	L246P	probably damaging	Het
M6pr	T	C	6: 122,292,339 (GRCm39)	L178P	possibly damaging	Het
Med17	A	G	9: 15,185,879 (GRCm39)	S212P	probably damaging	Het
Med23	T	A	10: 24,749,374 (GRCm39)	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,356,750 (GRCm39)	T341P	probably damaging	Het
Mre11a	A	G	9: 14,696,805 (GRCm39)	M1V	probably null	Het
Mrpl17	T	C	7: 105,459,122 (GRCm39)	H158R	probably benign	Het
Muc16	T	A	9: 18,558,695 (GRCm39)	K2533*	probably null	Het
N4bp2	T	C	5: 65,948,344 (GRCm39)	S325P	possibly damaging	Het
Nadk	A	G	4: 155,673,808 (GRCm39)	Y399C	possibly damaging	Het
Nbea	A	C	3: 55,998,540 (GRCm39)	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,328,181 (GRCm39)	F775L	probably benign	Het
Ndufa11	C	A	17: 57,028,331 (GRCm39)	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851 (GRCm39)	Y175C	possibly damaging	Het
Or10q3	A	T	19: 11,848,091 (GRCm39)	L163Q	probably damaging	Het
Or12e9	A	G	2: 87,201,909 (GRCm39)	N11S	probably damaging	Het
Pcsk6	T	C	7: 65,618,762 (GRCm39)	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,304,793 (GRCm39)	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,414,698 (GRCm39)	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rbm46	G	A	3: 82,771,262 (GRCm39)	T451M	probably benign	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Rpl7l1	T	C	17: 47,093,548 (GRCm39)	E4G	probably benign	Het
Rptn	A	G	3: 93,304,506 (GRCm39)	E613G	probably benign	Het
Sbk2	T	C	7: 4,960,621 (GRCm39)	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,693,950 (GRCm39)	A162T	probably benign	Het
Slc30a4	A	G	2: 122,527,966 (GRCm39)	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,547,262 (GRCm39)	F361L	probably benign	Het
Slc6a13	T	C	6: 121,313,801 (GRCm39)	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 72,957,247 (GRCm39)	K508N	possibly damaging	Het
Stard4	T	C	18: 33,338,278 (GRCm39)	D144G	probably benign	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tshz1	A	T	18: 84,031,345 (GRCm39)	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,246,304 (GRCm39)	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,293,112 (GRCm39)	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,998,716 (GRCm39)	L34P	probably damaging	Het
Xpo4	A	G	14: 57,875,770 (GRCm39)	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,712,177 (GRCm39)	H268L	probably null	Het
Zfp865	T	C	7: 5,033,065 (GRCm39)	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,634,828 (GRCm39)	I472V	possibly 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
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'- GGAGAGACTTTGGGCTTGAC -3'
(R):5'- GAATTCACAGTTTCGAAATTGAGGG -3'

Sequencing Primer
(F):5'- ACTTTGGGCTTGACTGCGATG -3'
(R):5'- AAGACCTTCCATGACTTGGG -3'

Posted On

2018-05-04