Mutagenetix > Incidental Mutation

Incidental Mutation 'R4597:Myh2'

344462

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

041813-MU

Accession Numbers

Essential gene?

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

Stock #

R4597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67061853-67088343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67080244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1153 (I1153L)

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: I1153L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: I1153L

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: I1153L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: I1153L

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

0.0764

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (67/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	T	A	2: 103,856,500 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,214 (GRCm39)	M229K	possibly damaging	Het
Adh5	T	C	3: 138,151,118 (GRCm39)	V27A	probably damaging	Het
Ank2	A	T	3: 126,781,800 (GRCm39)	D843E	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arid2	A	G	15: 96,268,737 (GRCm39)	N950S	probably damaging	Het
Arl1	A	T	10: 88,566,608 (GRCm39)		probably benign	Het
Bcl3	T	G	7: 19,546,428 (GRCm39)	I136L	probably damaging	Het
Car9	T	A	4: 43,509,138 (GRCm39)	S235R	probably damaging	Het
Carnmt1	G	T	19: 18,648,451 (GRCm39)	G30W	probably damaging	Het
Casp12	C	T	9: 5,348,941 (GRCm39)	T101I	possibly damaging	Het
Cdh23	A	G	10: 60,244,823 (GRCm39)	L1026P	probably damaging	Het
Clec10a	A	T	11: 70,060,806 (GRCm39)	Y186F	probably damaging	Het
Col22a1	G	T	15: 71,836,511 (GRCm39)	A508E	possibly damaging	Het
Crocc	G	C	4: 140,747,088 (GRCm39)	S1573R	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,191 (GRCm39)	T231K	possibly damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Ehbp1l1	T	C	19: 5,767,955 (GRCm39)	E1116G	possibly damaging	Het
Fam83d	T	C	2: 158,627,142 (GRCm39)	V277A	possibly damaging	Het
Fga	G	T	3: 82,938,542 (GRCm39)	G306*	probably null	Het
Fkbp9	A	G	6: 56,809,367 (GRCm39)	Y59C	probably damaging	Het
Frmpd1	A	G	4: 45,274,441 (GRCm39)	T450A	probably benign	Het
Gabbr1	A	G	17: 37,367,791 (GRCm39)	M414V	possibly damaging	Het
Gm16506	A	G	14: 43,962,572 (GRCm39)	F112L	unknown	Het
Gm27047	T	C	6: 130,607,299 (GRCm39)		noncoding transcript	Het
Gm4353	T	A	7: 115,682,847 (GRCm39)	K245*	probably null	Het
Gm4950	A	T	18: 51,998,865 (GRCm39)	I30N	probably benign	Het
H1f5	A	T	13: 21,964,681 (GRCm39)	V15E	probably damaging	Het
H2-M10.2	T	C	17: 36,596,285 (GRCm39)	T187A	probably benign	Het
H60c	A	T	10: 3,209,968 (GRCm39)	N106K	possibly damaging	Het
Hoxa6	T	C	6: 52,185,387 (GRCm39)		probably null	Het
Ighv1-74	A	G	12: 115,766,276 (GRCm39)	C115R	probably damaging	Het
Il17a	G	A	1: 20,801,217 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,672,582 (GRCm39)	Y199H	probably damaging	Het
Itpr3	C	T	17: 27,312,257 (GRCm39)	R554C	probably damaging	Het
Kcnc3	T	A	7: 44,245,240 (GRCm39)	M510K	probably damaging	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kif26b	A	T	1: 178,744,358 (GRCm39)	S1485C	probably damaging	Het
Klhl2	C	A	8: 65,207,421 (GRCm39)	G313W	probably damaging	Het
Klhl32	C	T	4: 24,629,339 (GRCm39)	S476N	probably benign	Het
Krt1	C	T	15: 101,756,063 (GRCm39)	E386K	possibly damaging	Het
Lats1	T	C	10: 7,567,510 (GRCm39)	S94P	probably benign	Het
Ltf	G	A	9: 110,852,001 (GRCm39)	C146Y	probably damaging	Het
Mars1	A	G	10: 127,136,322 (GRCm39)	L501P	probably damaging	Het
Ncstn	A	T	1: 171,895,823 (GRCm39)	Y522*	probably null	Het
Nipal4	A	G	11: 46,042,156 (GRCm39)	V175A	probably damaging	Het
Or7e169	T	C	9: 19,756,987 (GRCm39)	I309M	probably benign	Het
Pcdha1	C	G	18: 37,064,959 (GRCm39)	A541G	possibly damaging	Het
Pex11g	A	G	8: 3,514,043 (GRCm39)	Y40H	probably damaging	Het
Pira13	T	A	7: 3,825,154 (GRCm39)	Y496F	possibly damaging	Het
Qrfprl	T	C	6: 65,424,408 (GRCm39)		probably null	Het
Rin2	G	T	2: 145,702,825 (GRCm39)	R507L	probably benign	Het
Sh2b2	T	C	5: 136,260,616 (GRCm39)	D200G	probably damaging	Het
Smg7	C	A	1: 152,716,052 (GRCm39)		probably null	Het
Snx17	T	C	5: 31,355,857 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,741,255 (GRCm39)	Y510C	probably benign	Het
Spata31d1c	T	A	13: 65,183,427 (GRCm39)	L323*	probably null	Het
Supt16	C	T	14: 52,411,046 (GRCm39)	G686D	probably damaging	Het
Szt2	C	T	4: 118,229,878 (GRCm39)	R2751H	unknown	Het
Tnfsf8	A	G	4: 63,755,337 (GRCm39)	L95P	probably damaging	Het
Vmn2r17	A	G	5: 109,577,428 (GRCm39)	H493R	probably benign	Het
Zfp770	C	T	2: 114,027,251 (GRCm39)	A273T	possibly 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
R4424:Myh2	UTSW	11	67,083,551 (GRCm39)	missense	probably benign	0.01
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
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'- GCATTCAGCTGCAGAAGAAGATC -3'
(R):5'- TGCAGGTTGTCGATCTGCTC -3'

Sequencing Primer
(F):5'- GAGTTGCAGGTACATCCATAGCTTC -3'
(R):5'- GTTGTCGATCTGCTCCCCGAG -3'

Posted On

2015-09-25