Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Myh2'

151119

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

039331-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67171027-67197517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67180778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 474 (N474D)

Ref Sequence

ENSEMBL: ENSMUSP00000129544 (fasta)

Gene Model

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

AlphaFold

G3UW82

Predicted Effect

probably damaging
Transcript: ENSMUST00000018641
AA Change: N474D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: N474D

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 damaging
Transcript: ENSMUST00000170159
AA Change: N474D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: N474D

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

0.9032

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,646,377		probably benign	Het
Acadl	A	T	1: 66,857,553	C27S	probably benign	Het
Adgrb3	C	T	1: 25,559,850	G258E	probably damaging	Het
Akna	T	C	4: 63,381,725		probably null	Het
Angpt2	T	C	8: 18,741,217	N21S	probably benign	Het
Ano6	A	G	15: 95,949,566	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,642,519		probably benign	Het
Clec10a	T	A	11: 70,169,741	S103T	possibly damaging	Het
Clstn2	T	C	9: 97,457,609	R770G	probably benign	Het
Cndp2	C	A	18: 84,678,791	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,620,089	V2653A	probably benign	Het
Col4a3	A	T	1: 82,643,301		probably benign	Het
Daam1	A	G	12: 71,975,311		probably benign	Het
H2-M9	A	G	17: 36,642,592	V18A	probably benign	Het
Heatr1	T	A	13: 12,424,610		probably benign	Het
Impg1	T	C	9: 80,314,393	D715G	probably benign	Het
Incenp	T	C	19: 9,884,015	K425E	unknown	Het
Kif13b	T	C	14: 64,776,232		probably benign	Het
Msh2	T	A	17: 87,707,179		probably null	Het
Myo18b	T	C	5: 112,830,319	T1246A	probably benign	Het
Nob1	T	C	8: 107,421,504	H102R	probably damaging	Het
Olfr1427	G	T	19: 12,098,834	D268E	probably benign	Het
Pard3b	A	T	1: 62,164,157	I415F	probably damaging	Het
Pfkl	T	G	10: 77,993,416	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,485,763	V447A	probably benign	Het
Poli	C	T	18: 70,517,503	V266I	probably benign	Het
Rapgef4	A	T	2: 72,031,105	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,375,149		probably benign	Het
Six3	T	A	17: 85,621,857	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,218,238	E944D	possibly damaging	Het
Sptb	A	G	12: 76,612,607	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,373,837		probably benign	Het
Trrap	A	G	5: 144,789,599		probably benign	Het
Wbp11	A	G	6: 136,814,515		probably benign	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
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
R4424:Myh2	UTSW	11	67192725	missense	probably benign	0.01
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
R7859:Myh2	UTSW	11	67186700	missense	probably damaging	0.96
R7908:Myh2	UTSW	11	67197371	missense	probably benign
R8062:Myh2	UTSW	11	67193383	nonsense	probably null
R8065:Myh2	UTSW	11	67181344	missense	probably null	0.01
R8093:Myh2	UTSW	11	67188710	missense	probably damaging	1.00
R8123:Myh2	UTSW	11	67173309	missense	probably benign
R8235:Myh2	UTSW	11	67192998	missense	probably damaging	1.00
R8512:Myh2	UTSW	11	67190361	missense	probably benign	0.11
R8762:Myh2	UTSW	11	67193752	missense	probably damaging	1.00
R8777:Myh2	UTSW	11	67192572	missense	possibly damaging	0.67
R8777-TAIL:Myh2	UTSW	11	67192572	missense	possibly damaging	0.67
R8823:Myh2	UTSW	11	67185474	missense	probably damaging	1.00
R8927:Myh2	UTSW	11	67188683	missense	probably benign	0.00
R8928:Myh2	UTSW	11	67188683	missense	probably benign	0.00
R8978:Myh2	UTSW	11	67177362	missense	probably damaging	0.96
R8978:Myh2	UTSW	11	67189497	missense	probably damaging	0.98
R9228:Myh2	UTSW	11	67186696	missense	probably benign	0.11
R9332:Myh2	UTSW	11	67179383	missense	probably damaging	1.00
R9404:Myh2	UTSW	11	67179628	missense	probably damaging	1.00
R9430:Myh2	UTSW	11	67179533	missense	probably benign	0.01
R9445:Myh2	UTSW	11	67178928	missense	probably damaging	0.98
R9542:Myh2	UTSW	11	67181176	missense	possibly damaging	0.73
R9597:Myh2	UTSW	11	67173476	missense	possibly damaging	0.75
R9654:Myh2	UTSW	11	67197345	missense	probably benign
R9704:Myh2	UTSW	11	67180791	missense	possibly damaging	0.51
R9736:Myh2	UTSW	11	67173173	missense	probably benign	0.00
R9740:Myh2	UTSW	11	67189226	missense	probably damaging	0.99
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
Z1177:Myh2	UTSW	11	67176171	missense	possibly damaging	0.86
Z1177:Myh2	UTSW	11	67193258	missense	probably damaging	0.99
Z1188:Myh2	UTSW	11	67188813	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGTAAGGCAAGCTCTGAACCAAC -3'
(R):5'- AGCGGGATGGATACCTTCTCGATG -3'

Sequencing Primer
(F):5'- GGCGTCTACATGCCTCAAAC -3'
(R):5'- GAAGTCGATGAAGGTCCACT -3'

Posted On

2014-01-29