Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Myh1'

81505

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

039093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67090922-67115401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67112430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1799 (D1799G)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

AlphaFold

Q5SX40

Predicted Effect

probably damaging
Transcript: ENSMUST00000018637
AA Change: D1799G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: D1799G

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 damaging
Transcript: ENSMUST00000075734
AA Change: D1799G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: D1799G

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 damaging
Transcript: ENSMUST00000124516
AA Change: D1799G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: D1799G

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

0.2144

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Cacna1h	A	T	17: 25,597,749 (GRCm39)		probably benign	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or52z1	C	T	7: 103,436,604 (GRCm39)	M293I	probably benign	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Prodh2	C	A	7: 30,205,706 (GRCm39)	R218S	probably damaging	Het
Rps15a	T	C	7: 117,714,060 (GRCm39)	D54G	probably benign	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,116,780 (GRCm39)		probably benign	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	probably benign	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
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
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'- CGATAACATGCAGCATCCACTGTCC -3'
(R):5'- AAACCTAAGCTGTCAGGCAACAGG -3'

Sequencing Primer
(F):5'- CCCTGAGGGATGCTAGTCAATAAC -3'
(R):5'- GCAACAGGGACTATATGCTCTTC -3'

Posted On

2013-11-07