Mutagenetix > Incidental Mutations

Incidental Mutation 'R6548:Myh2'

521385

Institutional Source

Beutler Lab

Gene Symbol

Myh2

Ensembl Gene

ENSMUSG00000033196

Gene Name

myosin, heavy polypeptide 2, skeletal muscle, adult

Synonyms

MHC2A, Myhs-f, Myhsf1, Myhs-f1, MyHC-IIa

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R6548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67171027-67197517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67186612 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 858 (T858A)

Ref Sequence

ENSEMBL: ENSMUSP00000129544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018641] [ENSMUST00000170159]

Predicted Effect

probably benign
Transcript: ENSMUST00000018641
AA Change: T858A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: T858A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.1e-16	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	3.13e-3	SMART
IQ	813	835	3.14e2	SMART
low complexity region	850	862	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170159
AA Change: T858A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: T858A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	1.4e-14	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	3.13e-3	SMART
IQ	813	835	3.14e2	SMART
Pfam:Myosin_tail_1	850	1931	4e-166	PFAM

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

93% (38/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	C	10: 43,174,773	L21P	probably damaging	Het
Ank3	C	T	10: 69,892,410	A642V	probably damaging	Het
Bap1	A	G	14: 31,256,225	N349S	probably benign	Het
Brca1	G	T	11: 101,524,765	Q32K	probably damaging	Het
Ccdc39	A	T	3: 33,837,959	N121K	probably benign	Het
Champ1	A	T	8: 13,880,002	N720I	probably damaging	Het
Chd3	T	A	11: 69,362,060	R216*	probably null	Het
D630003M21Rik	A	G	2: 158,205,699		probably null	Het
Exoc2	A	T	13: 30,826,064	V804E	possibly damaging	Het
Fcgbp	A	G	7: 28,091,918	N868S	probably benign	Het
Gm10376	T	C	14: 43,015,568	M1V	probably null	Het
Gpc2	G	A	5: 138,277,271		probably null	Het
Gpr37	G	A	6: 25,688,813	T95I	probably benign	Het
Ints3	G	A	3: 90,392,124		probably benign	Het
Krt28	T	C	11: 99,367,013	E334G	probably damaging	Het
Lrrc75a	T	A	11: 62,606,095	T214S	probably damaging	Het
Lyar	A	G	5: 38,227,858	I81V	probably benign	Het
Mon2	A	T	10: 123,036,093	L342Q	probably damaging	Het
Mug2	C	T	6: 122,047,442	A491V	probably damaging	Het
Net1	C	T	13: 3,886,074		probably null	Het
Olfr502	T	C	7: 108,523,216	T245A	probably benign	Het
Olfr593	T	A	7: 103,211,904	Y4N	probably benign	Het
Platr25	A	T	13: 62,673,809	I110N	possibly damaging	Het
Plk5	T	A	10: 80,363,045	L412H	probably damaging	Het
Rasal1	A	T	5: 120,674,725	T605S	probably benign	Het
Ryr2	T	A	13: 11,668,821	D3119V	probably damaging	Het
Serpina1a	G	T	12: 103,853,758	H387N	probably benign	Het
Serpina1d	G	T	12: 103,767,552	N164K	probably damaging	Het
Smurf1	A	G	5: 144,899,497	Y69H	probably damaging	Het
Sod2	A	G	17: 13,008,363	K68R	probably benign	Het
Ssbp2	A	G	13: 91,539,351	N51S	possibly damaging	Het
Tcl1b1	A	G	12: 105,164,404	R49G	probably benign	Het
Tgfb1	A	G	7: 25,696,925	I214M	probably benign	Het
Tln1	A	G	4: 43,547,525	I812T	probably damaging	Het
Topaz1	T	A	9: 122,748,354	C110S	possibly damaging	Het
Ubap2l	A	G	3: 90,023,560	F393L	probably damaging	Het
Vmn1r62	G	A	7: 5,675,770	G150D	probably damaging	Het
Wdr24	C	A	17: 25,827,925	Q651K	probably damaging	Het
Wdr7	A	G	18: 63,778,251	T905A	possibly damaging	Het
Zfyve26	A	G	12: 79,238,335	F2382S	probably damaging	Het

Other mutations in Myh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Myh2	APN	11	67185233	missense	possibly damaging	0.88
IGL00330:Myh2	APN	11	67193440	missense	probably benign	0.06
IGL00423:Myh2	APN	11	67197345	missense	probably benign
IGL00429:Myh2	APN	11	67180790	nonsense	probably null
IGL00465:Myh2	APN	11	67178833	splice site	probably benign
IGL00671:Myh2	APN	11	67193357	missense	probably damaging	0.97
IGL00773:Myh2	APN	11	67194421	missense	probably benign
IGL00821:Myh2	APN	11	67197397	utr 3 prime	probably benign
IGL00900:Myh2	APN	11	67179384	missense	probably damaging	1.00
IGL01374:Myh2	APN	11	67177424	missense	probably benign	0.05
IGL01613:Myh2	APN	11	67197344	missense	probably benign	0.01
IGL01845:Myh2	APN	11	67193034	missense	probably benign	0.02
IGL01900:Myh2	APN	11	67183783	missense	probably benign	0.01
IGL01936:Myh2	APN	11	67191773	missense	possibly damaging	0.94
IGL02129:Myh2	APN	11	67185258	missense	probably benign	0.05
IGL02172:Myh2	APN	11	67189052	missense	possibly damaging	0.78
IGL02554:Myh2	APN	11	67189165	missense	probably benign	0.00
IGL02578:Myh2	APN	11	67186691	missense	probably benign	0.33
IGL03075:Myh2	APN	11	67180836	missense	probably benign	0.39
IGL03078:Myh2	APN	11	67190430	missense	probably benign
IGL03117:Myh2	APN	11	67180884	missense	possibly damaging	0.91
IGL03255:Myh2	APN	11	67193225	missense	probably damaging	1.00
IGL03266:Myh2	APN	11	67176324	missense	probably benign
IGL03366:Myh2	APN	11	67183523	missense	probably damaging	1.00
IGL03412:Myh2	APN	11	67189569	missense	probably benign	0.04
limp	UTSW	11	67192504	missense	probably damaging	1.00
noodle	UTSW	11	67186612	missense	probably benign
PIT4403001:Myh2	UTSW	11	67186707	missense	probably benign	0.22
PIT4508001:Myh2	UTSW	11	67185505	missense	probably benign	0.00
PIT4677001:Myh2	UTSW	11	67181992	missense	probably benign
R0039:Myh2	UTSW	11	67178277	missense	probably damaging	1.00
R0347:Myh2	UTSW	11	67185304	splice site	probably benign
R0389:Myh2	UTSW	11	67180821	missense	probably damaging	1.00
R0400:Myh2	UTSW	11	67192598	splice site	probably benign
R0512:Myh2	UTSW	11	67188678	missense	probably damaging	1.00
R0555:Myh2	UTSW	11	67178967	missense	probably damaging	1.00
R0746:Myh2	UTSW	11	67173431	missense	probably benign	0.00
R0842:Myh2	UTSW	11	67179524	missense	possibly damaging	0.83
R0893:Myh2	UTSW	11	67186508	missense	possibly damaging	0.82
R1218:Myh2	UTSW	11	67192525	missense	probably damaging	0.99
R1264:Myh2	UTSW	11	67180778	missense	probably damaging	0.96
R1398:Myh2	UTSW	11	67185287	missense	probably benign	0.14
R1774:Myh2	UTSW	11	67173474	missense	possibly damaging	0.96
R1800:Myh2	UTSW	11	67188938	missense	probably damaging	0.99
R1829:Myh2	UTSW	11	67176559	missense	probably damaging	0.98
R1840:Myh2	UTSW	11	67186487	missense	probably benign	0.16
R1888:Myh2	UTSW	11	67180850	missense	probably damaging	0.99
R1888:Myh2	UTSW	11	67180850	missense	probably damaging	0.99
R1969:Myh2	UTSW	11	67189178	missense	possibly damaging	0.67
R1971:Myh2	UTSW	11	67189178	missense	possibly damaging	0.67
R1985:Myh2	UTSW	11	67180914	missense	possibly damaging	0.65
R2021:Myh2	UTSW	11	67191719	missense	probably damaging	1.00
R2029:Myh2	UTSW	11	67194625	missense	possibly damaging	0.85
R2057:Myh2	UTSW	11	67188839	critical splice donor site	probably null
R2080:Myh2	UTSW	11	67174941	critical splice acceptor site	probably null
R2142:Myh2	UTSW	11	67189332	missense	probably damaging	1.00
R2215:Myh2	UTSW	11	67191737	missense	probably benign	0.35
R2225:Myh2	UTSW	11	67193729	missense	probably benign
R2274:Myh2	UTSW	11	67190358	missense	possibly damaging	0.84
R3018:Myh2	UTSW	11	67179584	missense	possibly damaging	0.67
R3113:Myh2	UTSW	11	67185186	missense	probably damaging	1.00
R3703:Myh2	UTSW	11	67189601	missense	probably benign	0.01
R4022:Myh2	UTSW	11	67179404	nonsense	probably null
R4081:Myh2	UTSW	11	67190430	missense	probably benign	0.11
R4191:Myh2	UTSW	11	67177400	missense	possibly damaging	0.81
R4291:Myh2	UTSW	11	67181159	missense	probably benign	0.01
R4292:Myh2	UTSW	11	67194897	missense	possibly damaging	0.46
R4424:Myh2	UTSW	11	67192725	missense	probably benign	0.01
R4524:Myh2	UTSW	11	67176270	missense	probably damaging	1.00
R4578:Myh2	UTSW	11	67173258	missense	possibly damaging	0.85
R4597:Myh2	UTSW	11	67189418	missense	probably benign	0.01
R4641:Myh2	UTSW	11	67194694	missense	probably damaging	1.00
R4672:Myh2	UTSW	11	67188477	missense	probably damaging	1.00
R4673:Myh2	UTSW	11	67188477	missense	probably damaging	1.00
R4804:Myh2	UTSW	11	67186502	missense	possibly damaging	0.78
R4818:Myh2	UTSW	11	67176255	missense	probably damaging	1.00
R4943:Myh2	UTSW	11	67197317	missense	probably damaging	1.00
R4958:Myh2	UTSW	11	67192959	missense	possibly damaging	0.83
R5139:Myh2	UTSW	11	67179348	missense	probably damaging	1.00
R5239:Myh2	UTSW	11	67192443	missense	probably benign	0.00
R5306:Myh2	UTSW	11	67186556	missense	probably damaging	1.00
R5492:Myh2	UTSW	11	67180875	missense	probably benign	0.20
R5503:Myh2	UTSW	11	67173449	missense	probably benign
R5646:Myh2	UTSW	11	67188812	missense	probably benign	0.07
R5750:Myh2	UTSW	11	67191428	missense	probably benign
R5806:Myh2	UTSW	11	67181315	missense	probably damaging	0.98
R5878:Myh2	UTSW	11	67192504	missense	probably damaging	1.00
R5892:Myh2	UTSW	11	67185176	nonsense	probably null
R5898:Myh2	UTSW	11	67192719	missense	possibly damaging	0.51
R6154:Myh2	UTSW	11	67186612	missense	probably benign
R6156:Myh2	UTSW	11	67181053	missense	probably damaging	0.98
R6236:Myh2	UTSW	11	67190331	missense	probably benign	0.00
R6349:Myh2	UTSW	11	67193003	missense	probably benign	0.04
R6441:Myh2	UTSW	11	67194611	missense	probably benign	0.00
R6681:Myh2	UTSW	11	67178348	missense	probably damaging	1.00
R6907:Myh2	UTSW	11	67193741	missense	probably damaging	1.00
R6925:Myh2	UTSW	11	67193218	missense	probably benign	0.00
R6969:Myh2	UTSW	11	67197266	missense	probably benign
R7172:Myh2	UTSW	11	67188701	missense	probably benign	0.00
R7257:Myh2	UTSW	11	67181150	missense	possibly damaging	0.70
R7286:Myh2	UTSW	11	67188369	missense	probably benign	0.23
R7323:Myh2	UTSW	11	67197365	missense	probably benign
R7396:Myh2	UTSW	11	67194728	critical splice donor site	probably null
R7468:Myh2	UTSW	11	67192542	missense	probably benign	0.01
R7585:Myh2	UTSW	11	67179411	critical splice donor site	probably null
R7709:Myh2	UTSW	11	67194864	missense	probably benign	0.00
X0026:Myh2	UTSW	11	67175022	missense	probably benign	0.10
X0065:Myh2	UTSW	11	67176259	missense	probably damaging	0.99
Z1088:Myh2	UTSW	11	67180763	critical splice acceptor site	probably benign
Z1088:Myh2	UTSW	11	67191449	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGACCAAAGCTGTGACATTC -3'
(R):5'- TATCATGGCCAGAGCACCAG -3'

Sequencing Primer
(F):5'- ACTCCTGAAATTTATATTCGCTCCG -3'
(R):5'- CAGCACTTCACCTTGATTAGTGATAC -3'

Posted On

2018-06-06