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

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

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

67090922-67115401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67111441 bp (GRCm39)

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: 90,351,260 (GRCm39)		noncoding transcript	Het
1700025G04Rik	T	C	1: 151,796,805 (GRCm39)	R87G	probably damaging	Het
9030619P08Rik	T	A	15: 75,303,249 (GRCm39)		noncoding transcript	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Arhgef5	T	C	6: 43,251,027 (GRCm39)	S593P	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cfap73	T	C	5: 120,768,215 (GRCm39)	K181R	possibly damaging	Het
Chn1	A	G	2: 73,443,427 (GRCm39)	I383T	probably damaging	Het
Cmtr2	A	G	8: 110,948,884 (GRCm39)	D398G	probably benign	Het
Dnah12	T	C	14: 26,537,464 (GRCm39)	Y2238H	probably damaging	Het
Dnah7c	A	G	1: 46,779,781 (GRCm39)	N3161S	probably damaging	Het
Dnah8	C	A	17: 31,032,125 (GRCm39)	H4148Q	probably benign	Het
Ehbp1l1	T	C	19: 5,766,321 (GRCm39)	S397G	possibly damaging	Het
Eya4	A	T	10: 22,992,566 (GRCm39)	S462R	probably damaging	Het
Fam227b	T	A	2: 125,988,188 (GRCm39)		probably benign	Het
Frrs1	G	A	3: 116,690,377 (GRCm39)	V7I	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gja10	A	T	4: 32,601,073 (GRCm39)	M437K	probably benign	Het
Gm2840	T	G	5: 96,322,187 (GRCm39)		noncoding transcript	Het
Gm4956	A	G	1: 21,368,319 (GRCm39)		noncoding transcript	Het
Gria4	A	G	9: 4,427,074 (GRCm39)	W789R	probably damaging	Het
Hoxb5	A	G	11: 96,194,546 (GRCm39)	D36G	probably damaging	Het
Hps5	A	T	7: 46,433,037 (GRCm39)	C228S	probably benign	Het
Hspa4	A	T	11: 53,171,395 (GRCm39)	C270S	probably damaging	Het
Htra4	C	A	8: 25,528,674 (GRCm39)	A73S	possibly damaging	Het
Ikzf2	T	C	1: 69,723,347 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,479,673 (GRCm39)	H131Y	probably benign	Het
Kat6a	A	G	8: 23,422,129 (GRCm39)		probably null	Het
Lamp3	T	A	16: 19,492,279 (GRCm39)	M322L	probably benign	Het
Letmd1	T	C	15: 100,373,011 (GRCm39)	V37A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo9b	A	G	8: 71,743,643 (GRCm39)	I235V	probably damaging	Het
Ndor1	A	G	2: 25,138,128 (GRCm39)		probably null	Het
Ndufa12	A	T	10: 94,056,680 (GRCm39)	K136M	probably damaging	Het
Or2t49	A	G	11: 58,392,944 (GRCm39)	L146P	probably damaging	Het
Or4a78	A	T	2: 89,497,427 (GRCm39)	S268T	probably benign	Het
Or51g2	C	T	7: 102,622,734 (GRCm39)	S155N	probably damaging	Het
Or5d44	A	G	2: 88,141,173 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,073,599 (GRCm39)	D410G	probably damaging	Het
Pcyox1l	T	A	18: 61,830,939 (GRCm39)	N311I	probably benign	Het
Pif1	A	G	9: 65,495,058 (GRCm39)		probably benign	Het
Pkp1	CTCTTCTT	CTCTT	1: 135,803,362 (GRCm39)		probably null	Het
Pogz	G	A	3: 94,763,374 (GRCm39)	V49I	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rnf4	A	G	5: 34,508,705 (GRCm39)	Y189C	probably benign	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sgms2	A	C	3: 131,118,665 (GRCm39)	Y273D	probably damaging	Het
Slc25a10	G	A	11: 120,387,915 (GRCm39)	V203I	probably benign	Het
Slc4a2	T	A	5: 24,639,328 (GRCm39)		probably benign	Het
Tbc1d13	A	G	2: 30,025,450 (GRCm39)		probably benign	Het
Tdrd7	A	G	4: 46,007,526 (GRCm39)	N526S	probably benign	Het
Tet2	C	T	3: 133,191,324 (GRCm39)	D1037N	possibly damaging	Het
Thrb	T	A	14: 18,011,187 (GRCm38)	W188R	probably damaging	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Usp9y	T	A	Y: 1,394,078 (GRCm39)	I551L	possibly damaging	Het
Vwde	T	C	6: 13,196,100 (GRCm39)	I308M	probably damaging	Het
Zan	T	C	5: 137,409,778 (GRCm39)	I3488V	unknown	Het
Zgrf1	A	T	3: 127,389,578 (GRCm39)	I375F	probably damaging	Het
Zic4	A	G	9: 91,261,315 (GRCm39)	K183R	probably damaging	Het

Other mutations in Myh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myh1	APN	11	67,111,691 (GRCm39)	missense	probably damaging	0.99
IGL00514:Myh1	APN	11	67,110,610 (GRCm39)	missense	probably damaging	1.00
IGL00851:Myh1	APN	11	67,108,736 (GRCm39)	missense	probably damaging	0.96
IGL01061:Myh1	APN	11	67,108,688 (GRCm39)	missense	probably benign	0.05
IGL01113:Myh1	APN	11	67,093,006 (GRCm39)	missense	probably benign	0.00
IGL01125:Myh1	APN	11	67,111,486 (GRCm39)	missense	probably benign
IGL01391:Myh1	APN	11	67,108,689 (GRCm39)	missense	probably benign	0.00
IGL01392:Myh1	APN	11	67,112,127 (GRCm39)	missense	probably benign	0.20
IGL01404:Myh1	APN	11	67,112,977 (GRCm39)	missense	possibly damaging	0.83
IGL01700:Myh1	APN	11	67,102,238 (GRCm39)	missense	probably damaging	1.00
IGL01739:Myh1	APN	11	67,105,354 (GRCm39)	missense	probably damaging	0.99
IGL01759:Myh1	APN	11	67,110,732 (GRCm39)	missense	probably damaging	1.00
IGL01922:Myh1	APN	11	67,101,292 (GRCm39)	critical splice donor site	probably null
IGL01952:Myh1	APN	11	67,111,218 (GRCm39)	splice site	probably null
IGL02007:Myh1	APN	11	67,111,382 (GRCm39)	missense	probably benign	0.03
IGL02028:Myh1	APN	11	67,101,441 (GRCm39)	missense	probably damaging	1.00
IGL02245:Myh1	APN	11	67,102,313 (GRCm39)	missense	possibly damaging	0.58
IGL02628:Myh1	APN	11	67,097,088 (GRCm39)	unclassified	probably benign
IGL02942:Myh1	APN	11	67,093,308 (GRCm39)	missense	probably damaging	1.00
IGL02967:Myh1	APN	11	67,099,896 (GRCm39)	missense	possibly damaging	0.76
IGL03031:Myh1	APN	11	67,097,213 (GRCm39)	missense	possibly damaging	0.47
IGL03187:Myh1	APN	11	67,097,351 (GRCm39)	missense	possibly damaging	0.56
IGL03302:Myh1	APN	11	67,102,328 (GRCm39)	missense	probably benign	0.01
compelling	UTSW	11	67,110,631 (GRCm39)	critical splice donor site	probably null
convincing	UTSW	11	67,093,365 (GRCm39)	missense	probably damaging	1.00
muscle	UTSW	11	67,096,874 (GRCm39)	nonsense	probably null
Persuasive	UTSW	11	67,099,890 (GRCm39)	missense	possibly damaging	0.90
G1patch:Myh1	UTSW	11	67,092,719 (GRCm39)	missense	probably damaging	1.00
R0041:Myh1	UTSW	11	67,099,904 (GRCm39)	missense	possibly damaging	0.88
R0079:Myh1	UTSW	11	67,104,237 (GRCm39)	missense	probably damaging	1.00
R0081:Myh1	UTSW	11	67,106,683 (GRCm39)	missense	probably benign
R0317:Myh1	UTSW	11	67,108,338 (GRCm39)	missense	probably damaging	1.00
R0465:Myh1	UTSW	11	67,101,243 (GRCm39)	missense	possibly damaging	0.50
R0528:Myh1	UTSW	11	67,111,445 (GRCm39)	missense	probably damaging	1.00
R0731:Myh1	UTSW	11	67,093,359 (GRCm39)	missense	probably damaging	0.98
R0964:Myh1	UTSW	11	67,096,751 (GRCm39)	missense	probably benign
R0964:Myh1	UTSW	11	67,112,430 (GRCm39)	missense	probably damaging	1.00
R1427:Myh1	UTSW	11	67,110,573 (GRCm39)	missense	probably damaging	0.99
R1429:Myh1	UTSW	11	67,108,736 (GRCm39)	missense	possibly damaging	0.78
R1481:Myh1	UTSW	11	67,096,325 (GRCm39)	unclassified	probably benign
R1562:Myh1	UTSW	11	67,102,196 (GRCm39)	missense	probably benign	0.04
R1727:Myh1	UTSW	11	67,101,292 (GRCm39)	critical splice donor site	probably benign
R1796:Myh1	UTSW	11	67,115,183 (GRCm39)	missense	probably benign	0.00
R1808:Myh1	UTSW	11	67,102,300 (GRCm39)	nonsense	probably null
R1836:Myh1	UTSW	11	67,095,648 (GRCm39)	missense	probably damaging	0.98
R1848:Myh1	UTSW	11	67,104,456 (GRCm39)	missense	probably benign	0.10
R1851:Myh1	UTSW	11	67,095,224 (GRCm39)	missense	probably damaging	1.00
R1925:Myh1	UTSW	11	67,101,996 (GRCm39)	missense	probably benign	0.01
R1967:Myh1	UTSW	11	67,104,273 (GRCm39)	missense	probably benign	0.08
R1999:Myh1	UTSW	11	67,113,234 (GRCm39)	missense	probably benign	0.04
R2067:Myh1	UTSW	11	67,105,446 (GRCm39)	missense	possibly damaging	0.83
R2111:Myh1	UTSW	11	67,105,446 (GRCm39)	missense	possibly damaging	0.83
R2150:Myh1	UTSW	11	67,113,234 (GRCm39)	missense	probably benign	0.04
R2189:Myh1	UTSW	11	67,112,430 (GRCm39)	missense	probably damaging	1.00
R2352:Myh1	UTSW	11	67,111,363 (GRCm39)	missense	probably benign	0.00
R2436:Myh1	UTSW	11	67,104,097 (GRCm39)	missense	probably benign	0.04
R2483:Myh1	UTSW	11	67,102,052 (GRCm39)	missense	probably benign
R2508:Myh1	UTSW	11	67,104,424 (GRCm39)	missense	possibly damaging	0.61
R2509:Myh1	UTSW	11	67,096,423 (GRCm39)	missense	probably benign	0.01
R2511:Myh1	UTSW	11	67,096,423 (GRCm39)	missense	probably benign	0.01
R2908:Myh1	UTSW	11	67,111,522 (GRCm39)	nonsense	probably null
R2966:Myh1	UTSW	11	67,105,410 (GRCm39)	missense	probably damaging	1.00
R3829:Myh1	UTSW	11	67,096,423 (GRCm39)	missense	probably benign	0.01
R4106:Myh1	UTSW	11	67,102,403 (GRCm39)	missense	probably benign	0.33
R4108:Myh1	UTSW	11	67,102,403 (GRCm39)	missense	probably benign	0.33
R4629:Myh1	UTSW	11	67,100,119 (GRCm39)	missense	probably benign	0.01
R4981:Myh1	UTSW	11	67,115,300 (GRCm39)	utr 3 prime	probably benign
R5032:Myh1	UTSW	11	67,096,874 (GRCm39)	nonsense	probably null
R5239:Myh1	UTSW	11	67,106,051 (GRCm39)	missense	probably benign	0.19
R5241:Myh1	UTSW	11	67,095,275 (GRCm39)	missense	probably benign
R5303:Myh1	UTSW	11	67,092,843 (GRCm39)	missense	probably benign	0.09
R5666:Myh1	UTSW	11	67,112,178 (GRCm39)	missense	probably benign	0.30
R5717:Myh1	UTSW	11	67,099,782 (GRCm39)	missense	probably benign
R5761:Myh1	UTSW	11	67,110,078 (GRCm39)	missense	probably damaging	0.98
R5870:Myh1	UTSW	11	67,092,805 (GRCm39)	missense	possibly damaging	0.70
R6077:Myh1	UTSW	11	67,102,273 (GRCm39)	missense	probably damaging	1.00
R6089:Myh1	UTSW	11	67,111,613 (GRCm39)	splice site	probably null
R6089:Myh1	UTSW	11	67,092,993 (GRCm39)	splice site	probably null
R6197:Myh1	UTSW	11	67,111,793 (GRCm39)	missense	probably benign	0.01
R6460:Myh1	UTSW	11	67,112,202 (GRCm39)	missense	probably benign
R6627:Myh1	UTSW	11	67,105,835 (GRCm39)	missense	probably damaging	1.00
R6634:Myh1	UTSW	11	67,099,890 (GRCm39)	missense	possibly damaging	0.90
R6725:Myh1	UTSW	11	67,092,719 (GRCm39)	missense	probably damaging	1.00
R6784:Myh1	UTSW	11	67,105,396 (GRCm39)	missense	probably damaging	0.99
R6813:Myh1	UTSW	11	67,111,286 (GRCm39)	missense	probably benign	0.34
R6866:Myh1	UTSW	11	67,115,219 (GRCm39)	missense	probably damaging	0.99
R6997:Myh1	UTSW	11	67,111,463 (GRCm39)	missense	possibly damaging	0.94
R7028:Myh1	UTSW	11	67,111,247 (GRCm39)	missense	possibly damaging	0.64
R7133:Myh1	UTSW	11	67,093,412 (GRCm39)	missense	probably benign
R7185:Myh1	UTSW	11	67,098,285 (GRCm39)	missense	probably damaging	1.00
R7194:Myh1	UTSW	11	67,102,183 (GRCm39)	missense	probably benign
R7283:Myh1	UTSW	11	67,092,670 (GRCm39)	critical splice acceptor site	probably null
R7336:Myh1	UTSW	11	67,111,435 (GRCm39)	missense	probably benign	0.00
R7348:Myh1	UTSW	11	67,093,365 (GRCm39)	missense	probably damaging	1.00
R7369:Myh1	UTSW	11	67,111,524 (GRCm39)	missense	probably damaging	1.00
R7375:Myh1	UTSW	11	67,101,254 (GRCm39)	missense	probably damaging	1.00
R7384:Myh1	UTSW	11	67,115,201 (GRCm39)	missense	possibly damaging	0.46
R7387:Myh1	UTSW	11	67,099,715 (GRCm39)	missense	probably benign	0.14
R7424:Myh1	UTSW	11	67,104,489 (GRCm39)	missense	probably damaging	1.00
R7430:Myh1	UTSW	11	67,096,393 (GRCm39)	nonsense	probably null
R7443:Myh1	UTSW	11	67,111,331 (GRCm39)	missense	probably benign
R7447:Myh1	UTSW	11	67,110,006 (GRCm39)	missense	probably benign	0.01
R7509:Myh1	UTSW	11	67,101,287 (GRCm39)	missense	probably benign	0.40
R7583:Myh1	UTSW	11	67,111,739 (GRCm39)	missense	probably benign	0.00
R7611:Myh1	UTSW	11	67,101,243 (GRCm39)	missense	possibly damaging	0.50
R7617:Myh1	UTSW	11	67,106,701 (GRCm39)	missense	possibly damaging	0.94
R7727:Myh1	UTSW	11	67,106,748 (GRCm39)	missense	probably benign	0.00
R8029:Myh1	UTSW	11	67,102,066 (GRCm39)	critical splice donor site	probably null
R8042:Myh1	UTSW	11	67,097,429 (GRCm39)	missense	probably damaging	1.00
R8060:Myh1	UTSW	11	67,106,077 (GRCm39)	missense	probably benign
R8080:Myh1	UTSW	11	67,102,228 (GRCm39)	missense	probably benign	0.10
R8117:Myh1	UTSW	11	67,113,031 (GRCm39)	missense	probably damaging	1.00
R8171:Myh1	UTSW	11	67,093,398 (GRCm39)	missense	probably damaging	1.00
R8183:Myh1	UTSW	11	67,092,832 (GRCm39)	missense	possibly damaging	0.50
R8397:Myh1	UTSW	11	67,112,465 (GRCm39)	missense	probably damaging	0.97
R8545:Myh1	UTSW	11	67,093,027 (GRCm39)	missense	probably benign	0.00
R8807:Myh1	UTSW	11	67,111,354 (GRCm39)	missense	probably benign	0.02
R8812:Myh1	UTSW	11	67,099,967 (GRCm39)	missense	probably benign	0.00
R8855:Myh1	UTSW	11	67,102,247 (GRCm39)	missense	probably damaging	1.00
R8906:Myh1	UTSW	11	67,096,739 (GRCm39)	missense	probably benign	0.02
R8959:Myh1	UTSW	11	67,102,328 (GRCm39)	missense	probably benign
R8992:Myh1	UTSW	11	67,096,607 (GRCm39)	missense	probably benign
R9140:Myh1	UTSW	11	67,100,089 (GRCm39)	missense	probably benign	0.04
R9293:Myh1	UTSW	11	67,099,929 (GRCm39)	missense	probably benign	0.25
R9366:Myh1	UTSW	11	67,110,114 (GRCm39)	missense	probably damaging	1.00
R9371:Myh1	UTSW	11	67,110,631 (GRCm39)	critical splice donor site	probably null
R9378:Myh1	UTSW	11	67,093,259 (GRCm39)	missense	probably damaging	0.99
R9482:Myh1	UTSW	11	67,108,745 (GRCm39)	missense	probably damaging	1.00
R9507:Myh1	UTSW	11	67,102,049 (GRCm39)	missense	probably benign	0.00
R9558:Myh1	UTSW	11	67,108,618 (GRCm39)	missense	possibly damaging	0.90
R9561:Myh1	UTSW	11	67,108,618 (GRCm39)	missense	possibly damaging	0.90
R9587:Myh1	UTSW	11	67,102,196 (GRCm39)	missense	probably benign	0.03
X0062:Myh1	UTSW	11	67,098,367 (GRCm39)	missense	probably damaging	0.99
Z1177:Myh1	UTSW	11	67,097,144 (GRCm39)	missense	probably damaging	1.00
Z1187:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign
Z1188:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign
Z1190:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign
Z1191:Myh1	UTSW	11	67,095,272 (GRCm39)	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