Mutagenetix > Incidental Mutation

Incidental Mutation 'R5750:Myh2'

445975

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

043356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67061853-67088343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67082254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1319 (I1319V)

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: I1319V

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

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: I1319V

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: I1319V

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

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: I1319V

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

0.0617

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmat	G	A	4: 141,476,998 (GRCm39)	V135I	probably benign	Het
Agr3	T	C	12: 35,996,941 (GRCm39)	Y72H	probably benign	Het
Ankhd1	T	A	18: 36,757,955 (GRCm39)	M883K	probably benign	Het
Cpeb1	A	T	7: 81,086,099 (GRCm39)	D9E	probably benign	Het
Creb3l1	C	T	2: 91,816,608 (GRCm39)	V386M	possibly damaging	Het
Dnlz	C	T	2: 26,241,423 (GRCm39)	V102M	probably damaging	Het
Esp4	C	T	17: 40,913,286 (GRCm39)	T51M	probably benign	Het
Fap	C	A	2: 62,359,058 (GRCm39)	C443F	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Fshr	T	A	17: 89,293,669 (GRCm39)	L336F	probably benign	Het
Gna15	G	A	10: 81,345,230 (GRCm39)	Q212*	probably null	Het
Hk1	A	G	10: 62,110,245 (GRCm39)	F785L	possibly damaging	Het
Ints8	T	A	4: 11,241,654 (GRCm39)	Q263L	possibly damaging	Het
Itgax	T	C	7: 127,743,878 (GRCm39)	F880L	probably benign	Het
Kcnq4	A	C	4: 120,572,246 (GRCm39)	V327G	probably damaging	Het
Kdm4a	A	G	4: 117,999,396 (GRCm39)		probably benign	Het
Leng8	C	T	7: 4,145,119 (GRCm39)	S173L	probably benign	Het
Lrrc37a	C	T	11: 103,348,923 (GRCm39)	D2591N	unknown	Het
Macrod2	T	A	2: 141,357,240 (GRCm39)	S179T	probably benign	Het
Map4k2	T	A	19: 6,401,367 (GRCm39)	S612R	probably benign	Het
Mast2	A	G	4: 116,166,086 (GRCm39)		probably benign	Het
Micall2	C	T	5: 139,701,456 (GRCm39)		probably null	Het
Miga2	T	A	2: 30,261,577 (GRCm39)	W191R	probably damaging	Het
Mterf1b	T	C	5: 4,246,683 (GRCm39)	I108T	probably damaging	Het
Nalcn	T	C	14: 123,809,450 (GRCm39)	E234G	probably benign	Het
Ncoa4	T	A	14: 31,899,264 (GRCm39)	C602*	probably null	Het
Ntrk2	C	A	13: 58,956,736 (GRCm39)	P65Q	probably benign	Het
Or52z15	G	A	7: 103,332,362 (GRCm39)	V136I	possibly damaging	Het
Or6c215	C	T	10: 129,637,489 (GRCm39)	V302M	probably benign	Het
P3h1	A	T	4: 119,095,863 (GRCm39)	I324F	probably damaging	Het
Peli2	G	T	14: 48,493,632 (GRCm39)	V285L	possibly damaging	Het
Qser1	A	G	2: 104,619,268 (GRCm39)	S515P	probably damaging	Het
Rnf31	C	T	14: 55,836,143 (GRCm39)	R721C	probably damaging	Het
Rps5	A	G	7: 12,659,334 (GRCm39)	K42E	probably damaging	Het
Rufy4	A	T	1: 74,172,068 (GRCm39)	T264S	probably benign	Het
Shq1	A	T	6: 100,588,775 (GRCm39)	V259D	possibly damaging	Het
Slc22a3	T	C	17: 12,652,395 (GRCm39)	I410V	probably benign	Het
Stx5a	T	C	19: 8,732,501 (GRCm39)		probably benign	Het
Syne1	G	T	10: 5,289,209 (GRCm39)	H1430Q	probably benign	Het
Tasor2	G	A	13: 3,623,642 (GRCm39)	Q1421*	probably null	Het
Tmem126b	A	C	7: 90,118,865 (GRCm39)	V141G	probably damaging	Het
Trim52	C	A	14: 106,344,932 (GRCm39)	Q197K	probably benign	Het
Tshz1	A	G	18: 84,032,086 (GRCm39)	L774P	possibly damaging	Het
Ttn	T	C	2: 76,602,031 (GRCm39)	S10217G	possibly damaging	Het
Unc45a	A	G	7: 79,984,571 (GRCm39)	V228A	probably benign	Het
Unc93a2	C	T	17: 7,637,130 (GRCm39)	V133I	probably benign	Het
Vwa2	G	T	19: 56,897,663 (GRCm39)	G656V	probably benign	Het
Xpo5	T	C	17: 46,529,556 (GRCm39)		probably null	Het
Zeb2	T	A	2: 44,887,530 (GRCm39)	Q494L	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
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
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
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'- TGCACAGAGCTCGAAAATATCAG -3'
(R):5'- CTTGGCCTATGGAGATGTTCAC -3'

Sequencing Primer
(F):5'- ATCCGAACTCTCAATTTGGGG -3'
(R):5'- CAAATTGCAGCCATCAGC -3'

Posted On

2016-11-21