Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777-TAIL:Myh2'

668135

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

Accession Numbers

Essential gene?

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

Stock #

R8777-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67061853-67088343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67083398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1454 (R1454G)

Ref Sequence

ENSEMBL: ENSMUSP00000018641 (fasta)

Gene Model

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

AlphaFold

G3UW82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018641
AA Change: R1454G

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: R1454G

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

possibly damaging
Transcript: ENSMUST00000170159
AA Change: R1454G

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: R1454G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Cdh13	G	T	8: 119,963,706 (GRCm39)		probably null	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Ints4	C	A	7: 97,134,227 (GRCm39)	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,141,237 (GRCm39)	G422S	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Neurog2	G	T	3: 127,427,742 (GRCm39)	R122L	probably damaging	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Or6c3	T	A	10: 129,309,374 (GRCm39)	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Tent4a	T	A	13: 69,658,824 (GRCm39)	D337V	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	probably benign	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
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
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

Posted On

2021-03-08