Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00423:Myh2'

4578

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

Is this an essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

IGL00423

Quality Score

Status

Chromosome

Chromosomal Location

67171027-67197517 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67197345 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1929 (V1929A)

Ref Sequence

ENSEMBL: ENSMUSP00000129544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018637] [ENSMUST00000018641] [ENSMUST00000075734] [ENSMUST00000124516] [ENSMUST00000129018] [ENSMUST00000170159]

Predicted Effect

probably benign
Transcript: ENSMUST00000018637

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	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: ENSMUST00000018641
AA Change: V1929A

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

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196
AA Change: V1929A

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: ENSMUST00000075734

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	7.2e-14	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
Pfam:Myosin_tail_1	850	1931	1.9e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124516

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	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: ENSMUST00000129018

SMART Domains

Protein: ENSMUSP00000115583
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145346

Predicted Effect

probably benign
Transcript: ENSMUST00000170159
AA Change: V1929A

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

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196
AA Change: V1929A

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	G	A	14: 8,473,370	P600S	possibly damaging	Het
Acan	A	G	7: 79,097,824	E781G	probably benign	Het
Acp7	T	C	7: 28,614,697	T358A	possibly damaging	Het
Adamtsl2	C	A	2: 27,085,088	T199K	probably damaging	Het
Ap4e1	T	A	2: 127,028,289	S179T	probably damaging	Het
BC048671	A	G	6: 90,303,218	T39A	probably benign	Het
Cnr1	G	A	4: 33,944,116	S168N	probably damaging	Het
Cp	T	C	3: 19,985,662	V881A	possibly damaging	Het
Cyp4x1	T	C	4: 115,121,948	T151A	probably benign	Het
Drd2	T	C	9: 49,395,758	I48T	probably damaging	Het
Gemin5	A	T	11: 58,163,817	I253N	probably damaging	Het
Herc3	T	A	6: 58,868,715	I407K	probably damaging	Het
Ighmbp2	G	T	19: 3,268,704	H457Q	probably benign	Het
Mboat1	A	G	13: 30,195,793		probably benign	Het
Nucb2	T	A	7: 116,521,831		probably benign	Het
Pcsk5	T	C	19: 17,642,559	N383S	probably benign	Het
Pde1a	A	G	2: 79,865,670	L443P	probably damaging	Het
Prph2	A	T	17: 46,919,778	N199I	probably damaging	Het
Rab27b	A	G	18: 69,996,067		probably null	Het
Ranbp3	G	A	17: 56,709,238	D336N	probably damaging	Het
Rangap1	T	C	15: 81,721,993	D49G	probably benign	Het
Rasa3	G	A	8: 13,595,410		probably benign	Het
Serpina6	T	A	12: 103,651,903	N217I	probably damaging	Het
Sorbs2	A	G	8: 45,799,706		probably null	Het
Spire1	A	G	18: 67,529,015	V116A	probably damaging	Het
Tdrd1	T	C	19: 56,851,464	V652A	possibly damaging	Het
Tmprss11g	T	C	5: 86,492,191	E193G	probably benign	Het
Zfp451	A	T	1: 33,777,579	V213D	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
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
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
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

Posted On

2012-04-20