Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03255:Myh2'

414626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh2

Ensembl Gene

ENSMUSG00000033196

Gene Name

myosin, heavy polypeptide 2, skeletal muscle, adult

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

IGL03255

Quality Score

Status

Chromosome

Chromosomal Location

67171027-67197517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67193225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1558 (L1558Q)

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: L1558Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: L1558Q

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 damaging
Transcript: ENSMUST00000170159
AA Change: L1558Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: L1558Q

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,969,351		noncoding transcript	Het
Alpk3	A	G	7: 81,092,562	D709G	probably benign	Het
AY761184	T	C	8: 21,703,518	T29A	possibly damaging	Het
Capn3	G	T	2: 120,489,708	R309L	probably damaging	Het
Card11	T	C	5: 140,898,331	I398V	possibly damaging	Het
Cps1	T	A	1: 67,145,801	Y162*	probably null	Het
Defa26	A	T	8: 21,618,241	D20V	probably damaging	Het
Dnah8	T	G	17: 30,741,381	L2244R	probably damaging	Het
Fhad1	T	A	4: 141,972,880	N353I	possibly damaging	Het
Flt1	T	A	5: 147,588,521		probably benign	Het
Glyr1	G	A	16: 5,048,757		probably null	Het
Gm10220	A	G	5: 26,116,901	S258P	possibly damaging	Het
Lama3	A	T	18: 12,539,703	D845V	probably damaging	Het
Nelfb	G	T	2: 25,203,195	H482N	probably benign	Het
Olfr290	T	C	7: 84,916,517	L246P	possibly damaging	Het
Olfr482	A	G	7: 108,094,817	V251A	probably damaging	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Slc5a4a	G	A	10: 76,150,512	V85M	probably damaging	Het
Slc6a12	T	G	6: 121,354,287	C166G	probably damaging	Het
Tm7sf3	T	C	6: 146,606,120		probably benign	Het
Tmem94	G	T	11: 115,792,068		probably benign	Het
Tmod2	T	C	9: 75,577,258		probably benign	Het
Tmprss11c	T	A	5: 86,271,482	I73F	probably damaging	Het
Vmn1r10	A	G	6: 57,113,926	M168V	probably benign	Het
Vmn2r77	T	A	7: 86,811,923	M819K	probably benign	Het
Vmo1	C	T	11: 70,514,410		probably null	Het
Ywhab	A	G	2: 164,014,016	D104G	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
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
R1264:Myh2	UTSW	11	67180778	missense	probably damaging	0.96
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

Posted On

2016-08-02