Mutagenetix > Incidental Mutation

Incidental Mutation 'R4457:Myh1'

329964

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

041717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4457 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67200052-67224575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67220615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1627 (G1627R)

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: G1627R

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: G1627R

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: G1627R

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: G1627R

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: G1627R

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: G1627R

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: ENSMUST00000137662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149070

Meta Mutation Damage Score

0.1576

Coding Region Coverage

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

Validation Efficiency

97% (62/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	G	16: 90,554,372		noncoding transcript	Het
1700025G04Rik	T	C	1: 151,921,054	R87G	probably damaging	Het
9030619P08Rik	T	A	15: 75,431,400		noncoding transcript	Het
Akap13	A	G	7: 75,739,465	D2377G	probably damaging	Het
Arhgef5	T	C	6: 43,274,093	S593P	probably damaging	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Cdkn2d	C	G	9: 21,290,889	V21L	probably benign	Het
Cfap73	T	C	5: 120,630,150	K181R	possibly damaging	Het
Chn1	A	G	2: 73,613,083	I383T	probably damaging	Het
Cmtr2	A	G	8: 110,222,252	D398G	probably benign	Het
Dnah12	T	C	14: 26,815,507	Y2238H	probably damaging	Het
Dnah7c	A	G	1: 46,740,621	N3161S	probably damaging	Het
Dnah8	C	A	17: 30,813,151	H4148Q	probably benign	Het
Ehbp1l1	T	C	19: 5,716,293	S397G	possibly damaging	Het
Eya4	A	T	10: 23,116,668	S462R	probably damaging	Het
Fam227b	T	A	2: 126,146,268		probably benign	Het
Frrs1	G	A	3: 116,896,728	V7I	probably benign	Het
Fsip2	G	T	2: 82,990,776	A5618S	possibly damaging	Het
Gja10	A	T	4: 32,601,073	M437K	probably benign	Het
Gm2840	T	G	5: 96,174,328		noncoding transcript	Het
Gm4956	A	G	1: 21,298,095		noncoding transcript	Het
Gria4	A	G	9: 4,427,074	W789R	probably damaging	Het
Hoxb5	A	G	11: 96,303,720	D36G	probably damaging	Het
Hps5	A	T	7: 46,783,613	C228S	probably benign	Het
Hspa4	A	T	11: 53,280,568	C270S	probably damaging	Het
Htra4	C	A	8: 25,038,658	A73S	possibly damaging	Het
Ikzf2	T	C	1: 69,684,188		probably benign	Het
Ivl	G	A	3: 92,572,366	H131Y	probably benign	Het
Kat6a	A	G	8: 22,932,113		probably null	Het
Lamp3	T	A	16: 19,673,529	M322L	probably benign	Het
Letmd1	T	C	15: 100,475,130	V37A	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo9b	A	G	8: 71,290,999	I235V	probably damaging	Het
Ndor1	A	G	2: 25,248,116		probably null	Het
Ndufa12	A	T	10: 94,220,818	K136M	probably damaging	Het
Olfr1174-ps	A	G	2: 88,310,829		probably benign	Het
Olfr1251	A	T	2: 89,667,083	S268T	probably benign	Het
Olfr331	A	G	11: 58,502,118	L146P	probably damaging	Het
Olfr577	C	T	7: 102,973,527	S155N	probably damaging	Het
Pcdha2	A	G	18: 36,940,546	D410G	probably damaging	Het
Pcyox1l	T	A	18: 61,697,868	N311I	probably benign	Het
Pif1	A	G	9: 65,587,776		probably benign	Het
Pkp1	CTCTTCTT	CTCTT	1: 135,875,624		probably null	Het
Pogz	G	A	3: 94,856,063	V49I	probably benign	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rnf4	A	G	5: 34,351,361	Y189C	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sgms2	A	C	3: 131,325,016	Y273D	probably damaging	Het
Slc25a10	G	A	11: 120,497,089	V203I	probably benign	Het
Slc4a2	T	A	5: 24,434,330		probably benign	Het
Tbc1d13	A	G	2: 30,135,438		probably benign	Het
Tdrd7	A	G	4: 46,007,526	N526S	probably benign	Het
Tet2	C	T	3: 133,485,563	D1037N	possibly damaging	Het
Thrb	T	A	14: 18,011,187	W188R	probably damaging	Het
Ttn	T	C	2: 76,946,913	M1382V	probably benign	Het
Usp9y	T	A	Y: 1,394,078	I551L	possibly damaging	Het
Vwde	T	C	6: 13,196,101	I308M	probably damaging	Het
Zan	T	C	5: 137,411,516	I3488V	unknown	Het
Zgrf1	A	T	3: 127,595,929	I375F	probably damaging	Het
Zic4	A	G	9: 91,379,262	K183R	probably damaging	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
compelling	UTSW	11	67219805	critical splice donor site	probably null
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
R1562:Myh1	UTSW	11	67211370	missense	probably benign	0.04
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
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
R9482:Myh1	UTSW	11	67217919	missense	probably damaging	1.00
R9507:Myh1	UTSW	11	67211223	missense	probably benign	0.00
R9558:Myh1	UTSW	11	67217792	missense	possibly damaging	0.90
R9561:Myh1	UTSW	11	67217792	missense	possibly damaging	0.90
R9587:Myh1	UTSW	11	67211370	missense	probably benign	0.03
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'- TTGCTGTCCTGAAGGCATC -3'
(R):5'- ATGAACCATCATTGAGACACTGTG -3'

Sequencing Primer
(F):5'- TGAAGGCATCTCTGGAGCAC -3'
(R):5'- TGTGTCCACAGACTGGGTCAC -3'

Posted On

2015-07-21