Mutagenetix > Incidental Mutations

Incidental Mutation 'R1562:Myh1'

170695

Institutional Source

Beutler Lab

Gene Symbol

Myh1

Ensembl Gene

ENSMUSG00000056328

Gene Name

myosin, heavy polypeptide 1, skeletal muscle, adult

Synonyms

A530084A17Rik, Myhsf2, Myhs-f2, Myhs-f, IId/x, IId, myosin heavy chain 2X, MYHC-IIX, MyHC-IId/x

MMRRC Submission

039601-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67200052-67224575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67211370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 829 (M829T)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

AlphaFold

Q5SX40

Predicted Effect

probably benign
Transcript: ENSMUST00000018637
AA Change: M829T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: M829T

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: ENSMUST00000075734
AA Change: M829T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: M829T

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
AA Change: M829T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: M829T

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

noncoding transcript
Transcript: ENSMUST00000145021

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	T	11: 76,003,198	I134F	probably damaging	Het
Abca2	A	G	2: 25,446,319	I2201V	probably benign	Het
Adam22	T	C	5: 8,095,007	N817S	probably damaging	Het
Alox12	C	A	11: 70,250,165	R348L	probably damaging	Het
Asb17	A	T	3: 153,853,506	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733	S182P	possibly damaging	Het
Cenpe	T	C	3: 135,238,394	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,300,235	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917	I126V	probably benign	Het
Cubn	T	C	2: 13,427,967	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,373,978	L147Q	probably damaging	Het
D430042O09Rik	C	A	7: 125,842,848	S643Y	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Fat2	T	C	11: 55,309,974	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,016	D15G	probably damaging	Het
Flt3	T	C	5: 147,344,513	E803G	probably damaging	Het
Folr1	T	G	7: 101,858,594	D213A	probably damaging	Het
Fus	T	C	7: 127,979,922	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,765,514	R111*	probably null	Het
Gm17324	T	C	9: 78,448,682		probably benign	Het
Hormad2	A	T	11: 4,408,848		probably null	Het
Ifi27l2b	T	A	12: 103,456,521		probably null	Het
Isg20	G	T	7: 78,920,143	C176F	probably benign	Het
Krt15	C	A	11: 100,133,181	V346L	probably benign	Het
Med13l	A	G	5: 118,738,519	K920R	probably damaging	Het
Mlh3	A	T	12: 85,266,920	F831I	probably benign	Het
Mtmr9	A	G	14: 63,534,337	S267P	probably benign	Het
Mybpc1	C	T	10: 88,553,331	A406T	probably damaging	Het
Myo10	A	G	15: 25,780,411	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,239,552	V153D	probably damaging	Het
Olfr1195	T	A	2: 88,683,079	I218F	probably benign	Het
Olfr348	A	G	2: 36,786,684	D53G	probably damaging	Het
Olfr694	C	T	7: 106,688,980	M250I	probably benign	Het
Olfr898	C	A	9: 38,349,362	S87*	probably null	Het
Oog3	A	T	4: 144,162,599	I3N	probably damaging	Het
Pcnt	G	A	10: 76,367,330	T2646M	probably benign	Het
Phf10	A	T	17: 14,946,250	C453S	probably damaging	Het
Plcb4	T	A	2: 135,970,447		probably null	Het
Plekhh1	A	G	12: 79,076,708	H1185R	probably benign	Het
Prmt3	G	T	7: 49,826,854	V404L	probably benign	Het
Ptprb	T	A	10: 116,339,467	D1122E	probably benign	Het
Rars	A	G	11: 35,821,094		probably null	Het
Rasa2	G	T	9: 96,545,750	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,596,535	T40A	probably damaging	Het
Rem2	T	C	14: 54,476,318	V16A	probably benign	Het
Rlf	A	T	4: 121,150,391	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,694,217	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,476,623	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,385,893	S278P	probably benign	Het
Strn3	T	C	12: 51,633,618	T400A	probably benign	Het
Sycp2	A	T	2: 178,382,385	I402N	probably damaging	Het
Synj1	C	T	16: 90,987,402	V283I	probably benign	Het
Tas2r108	A	G	6: 40,494,066		probably null	Het
Ttpal	A	G	2: 163,615,403	N265S	probably benign	Het
Unc80	G	A	1: 66,637,957	G2015D	probably damaging	Het
Upf1	C	T	8: 70,343,367	W138*	probably null	Het
Vmn1r25	T	G	6: 57,978,801	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,586,836	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,389,444	T640N	probably damaging	Het
Wdr75	T	A	1: 45,803,870		probably null	Het
Zdbf2	T	G	1: 63,303,588	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,204,392	Q99R	probably benign	Het
Zfp964	C	T	8: 69,663,004	P85S	probably benign	Het

Other mutations in Myh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myh1	APN	11	67220865	missense	probably damaging	0.99
IGL00514:Myh1	APN	11	67219784	missense	probably damaging	1.00
IGL00851:Myh1	APN	11	67217910	missense	probably damaging	0.96
IGL01061:Myh1	APN	11	67217862	missense	probably benign	0.05
IGL01113:Myh1	APN	11	67202180	missense	probably benign	0.00
IGL01125:Myh1	APN	11	67220660	missense	probably benign
IGL01391:Myh1	APN	11	67217863	missense	probably benign	0.00
IGL01392:Myh1	APN	11	67221301	missense	probably benign	0.20
IGL01404:Myh1	APN	11	67222151	missense	possibly damaging	0.83
IGL01700:Myh1	APN	11	67211412	missense	probably damaging	1.00
IGL01739:Myh1	APN	11	67214528	missense	probably damaging	0.99
IGL01759:Myh1	APN	11	67219906	missense	probably damaging	1.00
IGL01922:Myh1	APN	11	67210466	critical splice donor site	probably null
IGL01952:Myh1	APN	11	67220392	splice site	probably null
IGL02007:Myh1	APN	11	67220556	missense	probably benign	0.03
IGL02028:Myh1	APN	11	67210615	missense	probably damaging	1.00
IGL02245:Myh1	APN	11	67211487	missense	possibly damaging	0.58
IGL02628:Myh1	APN	11	67206262	unclassified	probably benign
IGL02942:Myh1	APN	11	67202482	missense	probably damaging	1.00
IGL02967:Myh1	APN	11	67209070	missense	possibly damaging	0.76
IGL03031:Myh1	APN	11	67206387	missense	possibly damaging	0.47
IGL03187:Myh1	APN	11	67206525	missense	possibly damaging	0.56
IGL03302:Myh1	APN	11	67211502	missense	probably benign	0.01
convincing	UTSW	11	67202539	missense	probably damaging	1.00
muscle	UTSW	11	67206048	nonsense	probably null
Persuasive	UTSW	11	67209064	missense	possibly damaging	0.90
G1patch:Myh1	UTSW	11	67201893	missense	probably damaging	1.00
R0041:Myh1	UTSW	11	67209078	missense	possibly damaging	0.88
R0079:Myh1	UTSW	11	67213411	missense	probably damaging	1.00
R0081:Myh1	UTSW	11	67215857	missense	probably benign
R0317:Myh1	UTSW	11	67217512	missense	probably damaging	1.00
R0465:Myh1	UTSW	11	67210417	missense	possibly damaging	0.50
R0528:Myh1	UTSW	11	67220619	missense	probably damaging	1.00
R0731:Myh1	UTSW	11	67202533	missense	probably damaging	0.98
R0964:Myh1	UTSW	11	67205925	missense	probably benign
R0964:Myh1	UTSW	11	67221604	missense	probably damaging	1.00
R1427:Myh1	UTSW	11	67219747	missense	probably damaging	0.99
R1429:Myh1	UTSW	11	67217910	missense	possibly damaging	0.78
R1481:Myh1	UTSW	11	67205499	unclassified	probably benign
R1727:Myh1	UTSW	11	67210466	critical splice donor site	probably benign
R1796:Myh1	UTSW	11	67224357	missense	probably benign	0.00
R1808:Myh1	UTSW	11	67211474	nonsense	probably null
R1836:Myh1	UTSW	11	67204822	missense	probably damaging	0.98
R1848:Myh1	UTSW	11	67213630	missense	probably benign	0.10
R1851:Myh1	UTSW	11	67204398	missense	probably damaging	1.00
R1925:Myh1	UTSW	11	67211170	missense	probably benign	0.01
R1967:Myh1	UTSW	11	67213447	missense	probably benign	0.08
R1999:Myh1	UTSW	11	67222408	missense	probably benign	0.04
R2067:Myh1	UTSW	11	67214620	missense	possibly damaging	0.83
R2111:Myh1	UTSW	11	67214620	missense	possibly damaging	0.83
R2150:Myh1	UTSW	11	67222408	missense	probably benign	0.04
R2189:Myh1	UTSW	11	67221604	missense	probably damaging	1.00
R2352:Myh1	UTSW	11	67220537	missense	probably benign	0.00
R2436:Myh1	UTSW	11	67213271	missense	probably benign	0.04
R2483:Myh1	UTSW	11	67211226	missense	probably benign
R2508:Myh1	UTSW	11	67213598	missense	possibly damaging	0.61
R2509:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R2511:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R2908:Myh1	UTSW	11	67220696	nonsense	probably null
R2966:Myh1	UTSW	11	67214584	missense	probably damaging	1.00
R3829:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R4106:Myh1	UTSW	11	67211577	missense	probably benign	0.33
R4108:Myh1	UTSW	11	67211577	missense	probably benign	0.33
R4457:Myh1	UTSW	11	67220615	missense	probably benign	0.42
R4629:Myh1	UTSW	11	67209293	missense	probably benign	0.01
R4981:Myh1	UTSW	11	67224474	utr 3 prime	probably benign
R5032:Myh1	UTSW	11	67206048	nonsense	probably null
R5239:Myh1	UTSW	11	67215225	missense	probably benign	0.19
R5241:Myh1	UTSW	11	67204449	missense	probably benign
R5303:Myh1	UTSW	11	67202017	missense	probably benign	0.09
R5666:Myh1	UTSW	11	67221352	missense	probably benign	0.30
R5717:Myh1	UTSW	11	67208956	missense	probably benign
R5761:Myh1	UTSW	11	67219252	missense	probably damaging	0.98
R5870:Myh1	UTSW	11	67201979	missense	possibly damaging	0.70
R6077:Myh1	UTSW	11	67211447	missense	probably damaging	1.00
R6089:Myh1	UTSW	11	67202167	splice site	probably null
R6089:Myh1	UTSW	11	67220787	splice site	probably null
R6197:Myh1	UTSW	11	67220967	missense	probably benign	0.01
R6460:Myh1	UTSW	11	67221376	missense	probably benign
R6627:Myh1	UTSW	11	67215009	missense	probably damaging	1.00
R6634:Myh1	UTSW	11	67209064	missense	possibly damaging	0.90
R6725:Myh1	UTSW	11	67201893	missense	probably damaging	1.00
R6784:Myh1	UTSW	11	67214570	missense	probably damaging	0.99
R6813:Myh1	UTSW	11	67220460	missense	probably benign	0.34
R6866:Myh1	UTSW	11	67224393	missense	probably damaging	0.99
R6997:Myh1	UTSW	11	67220637	missense	possibly damaging	0.94
R7028:Myh1	UTSW	11	67220421	missense	possibly damaging	0.64
R7133:Myh1	UTSW	11	67202586	missense	probably benign
R7185:Myh1	UTSW	11	67207459	missense	probably damaging	1.00
R7194:Myh1	UTSW	11	67211357	missense	probably benign
R7283:Myh1	UTSW	11	67201844	critical splice acceptor site	probably null
R7336:Myh1	UTSW	11	67220609	missense	probably benign	0.00
R7348:Myh1	UTSW	11	67202539	missense	probably damaging	1.00
R7369:Myh1	UTSW	11	67220698	missense	probably damaging	1.00
R7375:Myh1	UTSW	11	67210428	missense	probably damaging	1.00
R7384:Myh1	UTSW	11	67224375	missense	possibly damaging	0.46
R7387:Myh1	UTSW	11	67208889	missense	probably benign	0.14
R7424:Myh1	UTSW	11	67213663	missense	probably damaging	1.00
R7430:Myh1	UTSW	11	67205567	nonsense	probably null
R7443:Myh1	UTSW	11	67220505	missense	probably benign
R7447:Myh1	UTSW	11	67219180	missense	probably benign	0.01
R7509:Myh1	UTSW	11	67210461	missense	probably benign	0.40
R7583:Myh1	UTSW	11	67220913	missense	probably benign	0.00
R7611:Myh1	UTSW	11	67210417	missense	possibly damaging	0.50
R7617:Myh1	UTSW	11	67215875	missense	possibly damaging	0.94
R7727:Myh1	UTSW	11	67215922	missense	probably benign	0.00
R8029:Myh1	UTSW	11	67211240	critical splice donor site	probably null
R8042:Myh1	UTSW	11	67206603	missense	probably damaging	1.00
R8060:Myh1	UTSW	11	67215251	missense	probably benign
R8080:Myh1	UTSW	11	67211402	missense	probably benign	0.10
R8117:Myh1	UTSW	11	67222205	missense	probably damaging	1.00
R8171:Myh1	UTSW	11	67202572	missense	probably damaging	1.00
R8183:Myh1	UTSW	11	67202006	missense	possibly damaging	0.50
R8397:Myh1	UTSW	11	67221639	missense	probably damaging	0.97
R8545:Myh1	UTSW	11	67202201	missense	probably benign	0.00
R8807:Myh1	UTSW	11	67220528	missense	probably benign	0.02
R8812:Myh1	UTSW	11	67209141	missense	probably benign	0.00
R8855:Myh1	UTSW	11	67211421	missense	probably damaging	1.00
R8906:Myh1	UTSW	11	67205913	missense	probably benign	0.02
R8959:Myh1	UTSW	11	67211502	missense	probably benign
R8992:Myh1	UTSW	11	67205781	missense	probably benign
R9140:Myh1	UTSW	11	67209263	missense	probably benign	0.04
R9293:Myh1	UTSW	11	67209103	missense	probably benign	0.25
R9366:Myh1	UTSW	11	67219288	missense	probably damaging	1.00
R9371:Myh1	UTSW	11	67219805	critical splice donor site	probably null
R9378:Myh1	UTSW	11	67202433	missense	probably damaging	0.99
X0062:Myh1	UTSW	11	67207541	missense	probably damaging	0.99
Z1177:Myh1	UTSW	11	67206318	missense	probably damaging	1.00
Z1187:Myh1	UTSW	11	67204446	missense	probably benign
Z1188:Myh1	UTSW	11	67204446	missense	probably benign
Z1190:Myh1	UTSW	11	67204446	missense	probably benign
Z1191:Myh1	UTSW	11	67204446	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCACACCAAGGTAATTCCCCTG -3'
(R):5'- TCACAGACTGAACTTGGAGCTGC -3'

Sequencing Primer
(F):5'- GCACACAGGTCTTTTTCAAAGC -3'
(R):5'- TCTTGCATCAGAGCTACCATC -3'

Posted On

2014-04-13