Mutagenetix > Incidental Mutation

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

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

MMRRC Submission

041696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67061853-67088343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67083551 bp (GRCm39)

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]

AlphaFold

G3UW82

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: 68,445,491 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,789,215 (GRCm39)	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,522,133 (GRCm39)		probably null	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arid3b	A	T	9: 57,741,151 (GRCm39)	D98E	probably benign	Het
Art2b	T	A	7: 101,229,129 (GRCm39)	I257F	probably benign	Het
Atp5f1a	T	A	18: 77,867,766 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,738,928 (GRCm39)	T861A	probably benign	Het
Cep164	A	T	9: 45,691,002 (GRCm39)	F1259L	possibly damaging	Het
Cfap91	G	T	16: 38,140,727 (GRCm39)	P409T	probably damaging	Het
Chrnd	T	C	1: 87,123,512 (GRCm39)	V350A	probably benign	Het
Clcn7	T	C	17: 25,379,150 (GRCm39)	L744P	probably damaging	Het
Csl	T	A	10: 99,594,453 (GRCm39)	D204V	possibly damaging	Het
Cstdc3	A	G	16: 36,132,951 (GRCm39)	D76G	probably null	Het
Cyp2c29	G	T	19: 39,275,620 (GRCm39)	W20L	probably damaging	Het
Dhrs13	G	T	11: 77,927,951 (GRCm39)	G266*	probably null	Het
Dll3	T	C	7: 27,995,716 (GRCm39)	N362D	probably damaging	Het
Efcab3	T	G	11: 104,626,940 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,015,532 (GRCm39)	V715A	probably benign	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Fpr2	C	T	17: 18,113,394 (GRCm39)	P130L	probably damaging	Het
Glce	A	G	9: 61,967,535 (GRCm39)	Y539H	probably damaging	Het
Hfe	A	T	13: 23,890,866 (GRCm39)	V91E	probably benign	Het
Hoxd13	A	T	2: 74,500,301 (GRCm39)	K281*	probably null	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Impg2	G	A	16: 56,080,388 (GRCm39)	V622I	possibly damaging	Het
Jun	A	G	4: 94,939,084 (GRCm39)	M142T	probably benign	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lama3	T	A	18: 12,652,929 (GRCm39)	C216*	probably null	Het
Lin54	G	T	5: 100,594,419 (GRCm39)	T582K	probably damaging	Het
Mapk11	A	G	15: 89,029,576 (GRCm39)		probably null	Het
Mindy3	A	G	2: 12,353,010 (GRCm39)	M397T	probably benign	Het
Mrpl41	T	C	2: 24,864,418 (GRCm39)	T85A	possibly damaging	Het
Msh6	T	A	17: 88,298,217 (GRCm39)	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,400 (GRCm39)	V41A	probably damaging	Het
Myo6	A	G	9: 80,195,320 (GRCm39)	K897E	probably benign	Het
Naprt	G	T	15: 75,764,605 (GRCm39)		probably null	Het
Nrl	G	A	14: 55,759,675 (GRCm39)	S84L	probably benign	Het
Nxf1	A	G	19: 8,744,128 (GRCm39)		probably benign	Het
Or8g2b	A	T	9: 39,751,652 (GRCm39)	R307S	possibly damaging	Het
Panx2	G	T	15: 88,952,423 (GRCm39)	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,795,632 (GRCm39)	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,364,320 (GRCm39)	T133I	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Prkdc	A	G	16: 15,591,603 (GRCm39)	K2694E	probably damaging	Het
Psma8	A	G	18: 14,854,247 (GRCm39)	I42M	probably damaging	Het
Ptprd	A	T	4: 76,021,200 (GRCm39)	M599K	probably benign	Het
Rnmt	A	G	18: 68,444,742 (GRCm39)	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scaf11	G	A	15: 96,316,309 (GRCm39)	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,016,210 (GRCm39)	R43Q	probably damaging	Het
Shc4	G	T	2: 125,494,442 (GRCm39)	T131K	probably benign	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Sorcs1	T	C	19: 50,367,379 (GRCm39)	T228A	probably damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Sptan1	C	T	2: 29,919,721 (GRCm39)		probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Upf3a	C	A	8: 13,846,573 (GRCm39)	P318T	probably benign	Het
Zbtb40	A	T	4: 136,726,005 (GRCm39)	M518K	probably damaging	Het
Zcchc14	G	A	8: 122,378,680 (GRCm39)		probably benign	Het
Zfp687	G	A	3: 94,916,439 (GRCm39)	P861L	probably damaging	Het

Other mutations in Myh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Myh2	APN	11	67,076,059 (GRCm39)	missense	possibly damaging	0.88
IGL00330:Myh2	APN	11	67,084,266 (GRCm39)	missense	probably benign	0.06
IGL00423:Myh2	APN	11	67,088,171 (GRCm39)	missense	probably benign
IGL00429:Myh2	APN	11	67,071,616 (GRCm39)	nonsense	probably null
IGL00465:Myh2	APN	11	67,069,659 (GRCm39)	splice site	probably benign
IGL00671:Myh2	APN	11	67,084,183 (GRCm39)	missense	probably damaging	0.97
IGL00773:Myh2	APN	11	67,085,247 (GRCm39)	missense	probably benign
IGL00821:Myh2	APN	11	67,088,223 (GRCm39)	utr 3 prime	probably benign
IGL00900:Myh2	APN	11	67,070,210 (GRCm39)	missense	probably damaging	1.00
IGL01374:Myh2	APN	11	67,068,250 (GRCm39)	missense	probably benign	0.05
IGL01613:Myh2	APN	11	67,088,170 (GRCm39)	missense	probably benign	0.01
IGL01845:Myh2	APN	11	67,083,860 (GRCm39)	missense	probably benign	0.02
IGL01900:Myh2	APN	11	67,074,609 (GRCm39)	missense	probably benign	0.01
IGL01936:Myh2	APN	11	67,082,599 (GRCm39)	missense	possibly damaging	0.94
IGL02129:Myh2	APN	11	67,076,084 (GRCm39)	missense	probably benign	0.05
IGL02172:Myh2	APN	11	67,079,878 (GRCm39)	missense	possibly damaging	0.78
IGL02554:Myh2	APN	11	67,079,991 (GRCm39)	missense	probably benign	0.00
IGL02578:Myh2	APN	11	67,077,517 (GRCm39)	missense	probably benign	0.33
IGL03075:Myh2	APN	11	67,071,662 (GRCm39)	missense	probably benign	0.39
IGL03078:Myh2	APN	11	67,081,256 (GRCm39)	missense	probably benign
IGL03117:Myh2	APN	11	67,071,710 (GRCm39)	missense	possibly damaging	0.91
IGL03255:Myh2	APN	11	67,084,051 (GRCm39)	missense	probably damaging	1.00
IGL03266:Myh2	APN	11	67,067,150 (GRCm39)	missense	probably benign
IGL03366:Myh2	APN	11	67,074,349 (GRCm39)	missense	probably damaging	1.00
IGL03412:Myh2	APN	11	67,080,395 (GRCm39)	missense	probably benign	0.04
limp	UTSW	11	67,083,330 (GRCm39)	missense	probably damaging	1.00
noodle	UTSW	11	67,077,438 (GRCm39)	missense	probably benign
PIT4403001:Myh2	UTSW	11	67,077,533 (GRCm39)	missense	probably benign	0.22
PIT4508001:Myh2	UTSW	11	67,076,331 (GRCm39)	missense	probably benign	0.00
PIT4677001:Myh2	UTSW	11	67,072,818 (GRCm39)	missense	probably benign
R0039:Myh2	UTSW	11	67,069,103 (GRCm39)	missense	probably damaging	1.00
R0347:Myh2	UTSW	11	67,076,130 (GRCm39)	splice site	probably benign
R0389:Myh2	UTSW	11	67,071,647 (GRCm39)	missense	probably damaging	1.00
R0400:Myh2	UTSW	11	67,083,424 (GRCm39)	splice site	probably benign
R0512:Myh2	UTSW	11	67,079,504 (GRCm39)	missense	probably damaging	1.00
R0555:Myh2	UTSW	11	67,069,793 (GRCm39)	missense	probably damaging	1.00
R0746:Myh2	UTSW	11	67,064,257 (GRCm39)	missense	probably benign	0.00
R0842:Myh2	UTSW	11	67,070,350 (GRCm39)	missense	possibly damaging	0.83
R0893:Myh2	UTSW	11	67,077,334 (GRCm39)	missense	possibly damaging	0.82
R1218:Myh2	UTSW	11	67,083,351 (GRCm39)	missense	probably damaging	0.99
R1264:Myh2	UTSW	11	67,071,604 (GRCm39)	missense	probably damaging	0.96
R1398:Myh2	UTSW	11	67,076,113 (GRCm39)	missense	probably benign	0.14
R1774:Myh2	UTSW	11	67,064,300 (GRCm39)	missense	possibly damaging	0.96
R1800:Myh2	UTSW	11	67,079,764 (GRCm39)	missense	probably damaging	0.99
R1829:Myh2	UTSW	11	67,067,385 (GRCm39)	missense	probably damaging	0.98
R1840:Myh2	UTSW	11	67,077,313 (GRCm39)	missense	probably benign	0.16
R1888:Myh2	UTSW	11	67,071,676 (GRCm39)	missense	probably damaging	0.99
R1888:Myh2	UTSW	11	67,071,676 (GRCm39)	missense	probably damaging	0.99
R1969:Myh2	UTSW	11	67,080,004 (GRCm39)	missense	possibly damaging	0.67
R1971:Myh2	UTSW	11	67,080,004 (GRCm39)	missense	possibly damaging	0.67
R1985:Myh2	UTSW	11	67,071,740 (GRCm39)	missense	possibly damaging	0.65
R2021:Myh2	UTSW	11	67,082,545 (GRCm39)	missense	probably damaging	1.00
R2029:Myh2	UTSW	11	67,085,451 (GRCm39)	missense	possibly damaging	0.85
R2057:Myh2	UTSW	11	67,079,665 (GRCm39)	critical splice donor site	probably null
R2080:Myh2	UTSW	11	67,065,767 (GRCm39)	critical splice acceptor site	probably null
R2142:Myh2	UTSW	11	67,080,158 (GRCm39)	missense	probably damaging	1.00
R2215:Myh2	UTSW	11	67,082,563 (GRCm39)	missense	probably benign	0.35
R2225:Myh2	UTSW	11	67,084,555 (GRCm39)	missense	probably benign
R2274:Myh2	UTSW	11	67,081,184 (GRCm39)	missense	possibly damaging	0.84
R3018:Myh2	UTSW	11	67,070,410 (GRCm39)	missense	possibly damaging	0.67
R3113:Myh2	UTSW	11	67,076,012 (GRCm39)	missense	probably damaging	1.00
R3703:Myh2	UTSW	11	67,080,427 (GRCm39)	missense	probably benign	0.01
R4022:Myh2	UTSW	11	67,070,230 (GRCm39)	nonsense	probably null
R4081:Myh2	UTSW	11	67,081,256 (GRCm39)	missense	probably benign	0.11
R4191:Myh2	UTSW	11	67,068,226 (GRCm39)	missense	possibly damaging	0.81
R4291:Myh2	UTSW	11	67,071,985 (GRCm39)	missense	probably benign	0.01
R4292:Myh2	UTSW	11	67,085,723 (GRCm39)	missense	possibly damaging	0.46
R4524:Myh2	UTSW	11	67,067,096 (GRCm39)	missense	probably damaging	1.00
R4578:Myh2	UTSW	11	67,064,084 (GRCm39)	missense	possibly damaging	0.85
R4597:Myh2	UTSW	11	67,080,244 (GRCm39)	missense	probably benign	0.01
R4641:Myh2	UTSW	11	67,085,520 (GRCm39)	missense	probably damaging	1.00
R4672:Myh2	UTSW	11	67,079,303 (GRCm39)	missense	probably damaging	1.00
R4673:Myh2	UTSW	11	67,079,303 (GRCm39)	missense	probably damaging	1.00
R4804:Myh2	UTSW	11	67,077,328 (GRCm39)	missense	possibly damaging	0.78
R4818:Myh2	UTSW	11	67,067,081 (GRCm39)	missense	probably damaging	1.00
R4943:Myh2	UTSW	11	67,088,143 (GRCm39)	missense	probably damaging	1.00
R4958:Myh2	UTSW	11	67,083,785 (GRCm39)	missense	possibly damaging	0.83
R5139:Myh2	UTSW	11	67,070,174 (GRCm39)	missense	probably damaging	1.00
R5239:Myh2	UTSW	11	67,083,269 (GRCm39)	missense	probably benign	0.00
R5306:Myh2	UTSW	11	67,077,382 (GRCm39)	missense	probably damaging	1.00
R5492:Myh2	UTSW	11	67,071,701 (GRCm39)	missense	probably benign	0.20
R5503:Myh2	UTSW	11	67,064,275 (GRCm39)	missense	probably benign
R5646:Myh2	UTSW	11	67,079,638 (GRCm39)	missense	probably benign	0.07
R5750:Myh2	UTSW	11	67,082,254 (GRCm39)	missense	probably benign
R5806:Myh2	UTSW	11	67,072,141 (GRCm39)	missense	probably damaging	0.98
R5878:Myh2	UTSW	11	67,083,330 (GRCm39)	missense	probably damaging	1.00
R5892:Myh2	UTSW	11	67,076,002 (GRCm39)	nonsense	probably null
R5898:Myh2	UTSW	11	67,083,545 (GRCm39)	missense	possibly damaging	0.51
R6154:Myh2	UTSW	11	67,077,438 (GRCm39)	missense	probably benign
R6156:Myh2	UTSW	11	67,071,879 (GRCm39)	missense	probably damaging	0.98
R6236:Myh2	UTSW	11	67,081,157 (GRCm39)	missense	probably benign	0.00
R6349:Myh2	UTSW	11	67,083,829 (GRCm39)	missense	probably benign	0.04
R6441:Myh2	UTSW	11	67,085,437 (GRCm39)	missense	probably benign	0.00
R6548:Myh2	UTSW	11	67,077,438 (GRCm39)	missense	probably benign
R6681:Myh2	UTSW	11	67,069,174 (GRCm39)	missense	probably damaging	1.00
R6907:Myh2	UTSW	11	67,084,567 (GRCm39)	missense	probably damaging	1.00
R6925:Myh2	UTSW	11	67,084,044 (GRCm39)	missense	probably benign	0.00
R6969:Myh2	UTSW	11	67,088,092 (GRCm39)	missense	probably benign
R7172:Myh2	UTSW	11	67,079,527 (GRCm39)	missense	probably benign	0.00
R7257:Myh2	UTSW	11	67,071,976 (GRCm39)	missense	possibly damaging	0.70
R7286:Myh2	UTSW	11	67,079,195 (GRCm39)	missense	probably benign	0.23
R7323:Myh2	UTSW	11	67,088,191 (GRCm39)	missense	probably benign
R7396:Myh2	UTSW	11	67,085,554 (GRCm39)	critical splice donor site	probably null
R7468:Myh2	UTSW	11	67,083,368 (GRCm39)	missense	probably benign	0.01
R7585:Myh2	UTSW	11	67,070,237 (GRCm39)	critical splice donor site	probably null
R7709:Myh2	UTSW	11	67,085,690 (GRCm39)	missense	probably benign	0.00
R7859:Myh2	UTSW	11	67,077,526 (GRCm39)	missense	probably damaging	0.96
R7908:Myh2	UTSW	11	67,088,197 (GRCm39)	missense	probably benign
R8062:Myh2	UTSW	11	67,084,209 (GRCm39)	nonsense	probably null
R8065:Myh2	UTSW	11	67,072,170 (GRCm39)	missense	probably null	0.01
R8093:Myh2	UTSW	11	67,079,536 (GRCm39)	missense	probably damaging	1.00
R8123:Myh2	UTSW	11	67,064,135 (GRCm39)	missense	probably benign
R8235:Myh2	UTSW	11	67,083,824 (GRCm39)	missense	probably damaging	1.00
R8512:Myh2	UTSW	11	67,081,187 (GRCm39)	missense	probably benign	0.11
R8762:Myh2	UTSW	11	67,084,578 (GRCm39)	missense	probably damaging	1.00
R8777:Myh2	UTSW	11	67,083,398 (GRCm39)	missense	possibly damaging	0.67
R8777-TAIL:Myh2	UTSW	11	67,083,398 (GRCm39)	missense	possibly damaging	0.67
R8823:Myh2	UTSW	11	67,076,300 (GRCm39)	missense	probably damaging	1.00
R8927:Myh2	UTSW	11	67,079,509 (GRCm39)	missense	probably benign	0.00
R8928:Myh2	UTSW	11	67,079,509 (GRCm39)	missense	probably benign	0.00
R8978:Myh2	UTSW	11	67,080,323 (GRCm39)	missense	probably damaging	0.98
R8978:Myh2	UTSW	11	67,068,188 (GRCm39)	missense	probably damaging	0.96
R9228:Myh2	UTSW	11	67,077,522 (GRCm39)	missense	probably benign	0.11
R9332:Myh2	UTSW	11	67,070,209 (GRCm39)	missense	probably damaging	1.00
R9404:Myh2	UTSW	11	67,070,454 (GRCm39)	missense	probably damaging	1.00
R9430:Myh2	UTSW	11	67,070,359 (GRCm39)	missense	probably benign	0.01
R9445:Myh2	UTSW	11	67,069,754 (GRCm39)	missense	probably damaging	0.98
R9542:Myh2	UTSW	11	67,072,002 (GRCm39)	missense	possibly damaging	0.73
R9597:Myh2	UTSW	11	67,064,302 (GRCm39)	missense	possibly damaging	0.75
R9654:Myh2	UTSW	11	67,088,171 (GRCm39)	missense	probably benign
R9704:Myh2	UTSW	11	67,071,617 (GRCm39)	missense	possibly damaging	0.51
R9736:Myh2	UTSW	11	67,063,999 (GRCm39)	missense	probably benign	0.00
R9740:Myh2	UTSW	11	67,080,052 (GRCm39)	missense	probably damaging	0.99
X0026:Myh2	UTSW	11	67,065,848 (GRCm39)	missense	probably benign	0.10
X0065:Myh2	UTSW	11	67,067,085 (GRCm39)	missense	probably damaging	0.99
Z1088:Myh2	UTSW	11	67,071,589 (GRCm39)	critical splice acceptor site	probably benign
Z1088:Myh2	UTSW	11	67,082,275 (GRCm39)	missense	probably damaging	0.98
Z1177:Myh2	UTSW	11	67,084,084 (GRCm39)	missense	probably damaging	0.99
Z1177:Myh2	UTSW	11	67,066,997 (GRCm39)	missense	possibly damaging	0.86
Z1188:Myh2	UTSW	11	67,079,639 (GRCm39)	missense	probably benign

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