Mutagenetix > Incidental Mutations

Incidental Mutation 'R4424:Myh2'

327274

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

041696-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67171027-67197517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67192725 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1478 (Q1478L)

Ref Sequence

ENSEMBL: ENSMUSP00000129544 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000018641
AA Change: Q1478L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: Q1478L

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

noncoding transcript
Transcript: ENSMUST00000145346

Predicted Effect

probably benign
Transcript: ENSMUST00000170159
AA Change: Q1478L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: Q1478L

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

0.1157

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,615,147		probably benign	Het
Aimp1	A	T	3: 132,667,492	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,784,404	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,637,933		probably null	Het
Arfgap1	C	A	2: 180,981,076	D327E	probably benign	Het
Arid3b	A	T	9: 57,833,868	D98E	probably benign	Het
Art2b	T	A	7: 101,579,922	I257F	probably benign	Het
Atp5a1	T	A	18: 77,780,066		probably benign	Het
Carmil3	A	G	14: 55,501,471	T861A	probably benign	Het
Cep164	A	T	9: 45,779,704	F1259L	possibly damaging	Het
Chrnd	T	C	1: 87,195,790	V350A	probably benign	Het
Clcn7	T	C	17: 25,160,176	L744P	probably damaging	Het
Csl	T	A	10: 99,758,591	D204V	possibly damaging	Het
Cyp2c29	G	T	19: 39,287,176	W20L	probably damaging	Het
Dhrs13	G	T	11: 78,037,125	G266*	probably null	Het
Dll3	T	C	7: 28,296,291	N362D	probably damaging	Het
Fanca	A	G	8: 123,288,793	V715A	probably benign	Het
Fhod1	T	C	8: 105,337,351		probably benign	Het
Fpr2	C	T	17: 17,893,132	P130L	probably damaging	Het
Glce	A	G	9: 62,060,253	Y539H	probably damaging	Het
Gm11639	T	G	11: 104,736,114		probably null	Het
Gm4758	A	G	16: 36,312,589	D76G	probably null	Het
Hfe	A	T	13: 23,706,883	V91E	probably benign	Het
Hoxd13	A	T	2: 74,669,957	K281*	probably null	Het
Ighv1-66	A	T	12: 115,593,537	W3R	probably damaging	Het
Impg2	G	A	16: 56,260,025	V622I	possibly damaging	Het
Jun	A	G	4: 95,050,847	M142T	probably benign	Het
Krt78	T	C	15: 101,947,940	T479A	probably benign	Het
Lama3	T	A	18: 12,519,872	C216*	probably null	Het
Lin54	G	T	5: 100,446,560	T582K	probably damaging	Het
Maats1	G	T	16: 38,320,365	P409T	probably damaging	Het
Mapk11	A	G	15: 89,145,373		probably null	Het
Mindy3	A	G	2: 12,348,199	M397T	probably benign	Het
Mrpl41	T	C	2: 24,974,406	T85A	possibly damaging	Het
Msh6	T	A	17: 87,990,789	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,314	V41A	probably damaging	Het
Myo6	A	G	9: 80,288,038	K897E	probably benign	Het
Naprt	G	T	15: 75,892,756		probably null	Het
Nrl	G	A	14: 55,522,218	S84L	probably benign	Het
Nxf1	A	G	19: 8,766,764		probably benign	Het
Olfr971	A	T	9: 39,840,356	R307S	possibly damaging	Het
Panx2	G	T	15: 89,068,220	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,662,579	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,375,881	T133I	probably benign	Het
Ppat	A	G	5: 76,915,214	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Prkdc	A	G	16: 15,773,739	K2694E	probably damaging	Het
Prkdc	G	A	16: 15,836,082	R3901H	probably damaging	Het
Psma8	A	G	18: 14,721,190	I42M	probably damaging	Het
Ptprd	A	T	4: 76,102,963	M599K	probably benign	Het
Rnmt	A	G	18: 68,311,671	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Scaf11	G	A	15: 96,418,428	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,066,210	R43Q	probably damaging	Het
Shc4	G	T	2: 125,652,522	T131K	probably benign	Het
Snx27	A	G	3: 94,562,023	F4L	probably benign	Het
Sorcs1	T	C	19: 50,378,941	T228A	probably damaging	Het
Sptan1	C	T	2: 30,029,709		probably benign	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Tex47	G	T	5: 7,305,364	A182S	probably benign	Het
Thegl	T	C	5: 77,054,536	I268T	possibly damaging	Het
Tpcn1	T	C	5: 120,542,518	K549R	probably damaging	Het
Upf3a	C	A	8: 13,796,573	P318T	probably benign	Het
Zbtb40	A	T	4: 136,998,694	M518K	probably damaging	Het
Zcchc14	G	A	8: 121,651,941		probably benign	Het
Zfp687	G	A	3: 95,009,128	P861L	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
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
R6548:Myh2	UTSW	11	67186612	missense	probably benign
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'- TTCTCTGGAGAAGACGAAGCAG -3'
(R):5'- GCATAGAAGAGCGAGTGTTCC -3'

Sequencing Primer
(F):5'- AGAGGACCAACGCTGCTTG -3'
(R):5'- AAGAGCGAGTGTTCCCTCCAAG -3'

Posted On

2015-07-07