Mutagenetix > Incidental Mutation

Incidental Mutation 'R9558:Myh1'

720870

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67090922-67115401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 67108618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 1345 (H1345D)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

AlphaFold

Q5SX40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018637
AA Change: H1345D

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: H1345D

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

possibly damaging
Transcript: ENSMUST00000075734
AA Change: H1345D

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: H1345D

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

possibly damaging
Transcript: ENSMUST00000124516
AA Change: H1345D

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: H1345D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,290,576 (GRCm39)	P126L	probably damaging	Het
Adh7	T	A	3: 137,932,043 (GRCm39)	I219N	probably damaging	Het
Ash1l	A	G	3: 88,889,521 (GRCm39)	S467G	probably benign	Het
Atm	T	C	9: 53,412,081 (GRCm39)	I992V	probably benign	Het
Bdnf	T	C	2: 109,539,999 (GRCm39)	V31A		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccnk	A	T	12: 108,155,397 (GRCm39)	K118I	possibly damaging	Het
Ccr2	T	A	9: 123,906,104 (GRCm39)	V128E	possibly damaging	Het
Cd163	C	A	6: 124,297,471 (GRCm39)	N872K	probably benign	Het
Cd38	A	G	5: 44,057,792 (GRCm39)	I121M	probably damaging	Het
Cntnap5c	A	T	17: 58,671,157 (GRCm39)		probably null	Het
Cyp11b1	T	C	15: 74,710,789 (GRCm39)	E257G	probably benign	Het
Cyp2d40	T	C	15: 82,645,667 (GRCm39)	T113A	unknown	Het
Ddx23	A	G	15: 98,545,433 (GRCm39)	V625A	possibly damaging	Het
Dnaaf9	T	C	2: 130,617,660 (GRCm39)	N433D	probably damaging	Het
Fbxw17	T	C	13: 50,577,311 (GRCm39)	Y68H	probably damaging	Het
Fignl1	C	T	11: 11,751,778 (GRCm39)	V426I	possibly damaging	Het
Ggn	C	G	7: 28,871,973 (GRCm39)	P487R	probably damaging	Het
Gjb6	G	A	14: 57,362,261 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,576,014 (GRCm39)	F2L	possibly damaging	Het
Il1r2	A	G	1: 40,162,422 (GRCm39)	E355G	probably damaging	Het
Itprid1	T	A	6: 55,944,969 (GRCm39)	H563Q	possibly damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Lama1	A	G	17: 68,124,004 (GRCm39)	T2810A		Het
Ltn1	A	T	16: 87,220,295 (GRCm39)	S267R	probably benign	Het
Mapre2	T	A	18: 23,991,195 (GRCm39)	H196Q	possibly damaging	Het
Mfap4	A	C	11: 61,376,965 (GRCm39)	S65R	probably benign	Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Myh3	T	A	11: 66,983,316 (GRCm39)	C948S	possibly damaging	Het
Ndufa8	A	G	2: 35,926,605 (GRCm39)	S144P	probably benign	Het
Nudc	G	A	4: 133,260,776 (GRCm39)	R257C	probably benign	Het
Nufip1	A	G	14: 76,348,481 (GRCm39)	M37V	probably benign	Het
Ogn	A	G	13: 49,764,783 (GRCm39)	E61G	probably benign	Het
Or52n5	T	C	7: 104,588,615 (GRCm39)	V294A	possibly damaging	Het
Pcdh8	A	G	14: 80,006,380 (GRCm39)	S728P	probably damaging	Het
Pdzrn4	A	G	15: 92,299,877 (GRCm39)	D249G	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Setd2	C	T	9: 110,376,628 (GRCm39)	H148Y	probably damaging	Het
Smok2b	G	A	17: 13,453,884 (GRCm39)	G15R	probably damaging	Het
Sun1	A	G	5: 139,211,019 (GRCm39)	T91A	probably benign	Het
Tbc1d31	G	A	15: 57,795,988 (GRCm39)	A194T	probably damaging	Het
Tiparp	C	T	3: 65,438,852 (GRCm39)	S56F	possibly damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Trip6	A	G	5: 137,309,075 (GRCm39)	S344P	probably benign	Het
Ube2q1	A	G	3: 89,686,766 (GRCm39)	K207E	probably benign	Het
Ubr2	A	G	17: 47,262,843 (GRCm39)	V1256A	probably benign	Het
Vmn1r69	T	A	7: 10,314,185 (GRCm39)	Y182F	probably benign	Het
Wipf1	C	A	2: 73,268,020 (GRCm39)	R126L	probably damaging	Het
Zc3hav1	T	C	6: 38,331,042 (GRCm39)	E39G	possibly 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
R4457:Myh1	UTSW	11	67,111,441 (GRCm39)	missense	probably benign	0.42
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
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'- ACAGGCATTCACTCAACAGATTG -3'
(R):5'- AGTCAGGCACATACTTGGCC -3'

Sequencing Primer
(F):5'- AGATAAAGGTGAACTGGCTTCTTG -3'
(R):5'- AGGCACATACTTGGCCTCCTC -3'

Posted On

2022-08-09