Incidental Mutation 'R7028:Myh1'
ID 546141
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 045129-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7028 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 67090922-67115401 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67111247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1562 (E1562G)
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: E1562G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: E1562G

DomainStartEndE-ValueType
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: E1562G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: E1562G

DomainStartEndE-ValueType
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: E1562G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: E1562G

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,096,019 (GRCm39) I804T probably benign Het
Abcb1b A T 5: 8,855,441 (GRCm39) E25V probably damaging Het
Adamts9 G T 6: 92,886,774 (GRCm39) Y355* probably null Het
Akp3 A G 1: 87,054,500 (GRCm39) M303V probably benign Het
Ankrd35 A T 3: 96,590,650 (GRCm39) E312V possibly damaging Het
Arhgap40 T C 2: 158,373,294 (GRCm39) probably null Het
Asxl1 T C 2: 153,242,027 (GRCm39) L859P probably benign Het
Atat1 A G 17: 36,220,897 (GRCm39) F11L probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Ccdc7a A T 8: 129,608,075 (GRCm39) H943Q unknown Het
Cep135 A G 5: 76,764,695 (GRCm39) T558A probably benign Het
Cfap99 A G 5: 34,458,863 (GRCm39) E86G possibly damaging Het
Cfhr2 C T 1: 139,758,801 (GRCm39) probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col17a1 G A 19: 47,640,622 (GRCm39) P992L probably damaging Het
Col7a1 C T 9: 108,792,331 (GRCm39) Q1294* probably null Het
Coq8b T A 7: 26,939,293 (GRCm39) C148S probably damaging Het
Csmd2 A G 4: 128,171,021 (GRCm39) N338S Het
Cspg5 T A 9: 110,075,959 (GRCm39) S232T possibly damaging Het
Cyp2c67 A G 19: 39,628,341 (GRCm39) V201A possibly damaging Het
Dlgap3 G A 4: 127,089,310 (GRCm39) R302H possibly damaging Het
Dpy19l2 T C 9: 24,539,547 (GRCm39) I469V probably benign Het
Fam135b T C 15: 71,343,412 (GRCm39) D401G probably damaging Het
Gabbr1 G T 17: 37,375,629 (GRCm39) G453* probably null Het
Gclc C A 9: 77,695,498 (GRCm39) A440D probably damaging Het
Glyat T C 19: 12,627,723 (GRCm39) I106T probably benign Het
Gm12185 T C 11: 48,799,071 (GRCm39) N474S possibly damaging Het
Gm17079 T C 14: 51,930,494 (GRCm39) H117R Het
Ift70a2 A T 2: 75,806,613 (GRCm39) L633* probably null Het
Ildr2 A G 1: 166,131,098 (GRCm39) D318G probably damaging Het
Kcnd2 G A 6: 21,216,177 (GRCm39) probably benign Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Kif3a G T 11: 53,477,733 (GRCm39) G401* probably null Het
Lactbl1 T A 4: 136,360,286 (GRCm39) L155Q probably damaging Het
Lrp1b T A 2: 41,136,023 (GRCm39) D1649V probably benign Het
Lrrc37 C T 11: 103,505,363 (GRCm39) A26T probably benign Het
Map2k1 A G 9: 64,101,105 (GRCm39) V191A probably benign Het
Mdm4 A T 1: 132,931,547 (GRCm39) C165S probably benign Het
Med27 G A 2: 29,399,446 (GRCm39) W92* probably null Het
Muc20 A T 16: 32,614,616 (GRCm39) S254T probably benign Het
Nlrp2 C G 7: 5,331,571 (GRCm39) R275P possibly damaging Het
Notch2 T A 3: 98,009,703 (GRCm39) N543K probably damaging Het
Nup214 T A 2: 31,924,168 (GRCm39) S1566T probably benign Het
Nxnl1 T G 8: 72,015,437 (GRCm39) E157A possibly damaging Het
Obscn A G 11: 58,969,959 (GRCm39) L61P probably damaging Het
Ogg1 A T 6: 113,306,237 (GRCm39) I145F probably damaging Het
Or10d5j T C 9: 39,867,641 (GRCm39) T197A probably benign Het
Or2b2 A G 13: 21,887,440 (GRCm39) K90E possibly damaging Het
Or2f1 G A 6: 42,721,337 (GRCm39) R122H probably benign Het
Or51h5 T C 7: 102,577,149 (GRCm39) F105L probably damaging Het
Pclo A G 5: 14,763,461 (GRCm39) D3978G unknown Het
Pla2g4e T G 2: 120,000,676 (GRCm39) D687A probably damaging Het
Pla2r1 T C 2: 60,288,737 (GRCm39) K632E probably damaging Het
Plg A T 17: 12,610,723 (GRCm39) Q212L probably damaging Het
Poldip3 A T 15: 83,015,698 (GRCm39) N306K probably damaging Het
Pspn A G 17: 57,306,978 (GRCm39) L13P possibly damaging Het
Ralgapa1 T C 12: 55,804,844 (GRCm39) E484G probably damaging Het
Rbmxl1 G T 8: 79,233,286 (GRCm39) T19K probably damaging Het
Rora G A 9: 69,103,365 (GRCm39) V31I possibly damaging Het
Skint5 C A 4: 113,798,036 (GRCm39) W182C probably damaging Het
Spata31d1c A T 13: 65,183,877 (GRCm39) Q473L probably damaging Het
Tesk2 G A 4: 116,659,884 (GRCm39) W334* probably null Het
Tmem67 C A 4: 12,075,484 (GRCm39) V277L probably benign Het
Trhde A G 10: 114,354,082 (GRCm39) M537T probably damaging Het
Tubb6 G A 18: 67,534,981 (GRCm39) M293I probably benign Het
Ube2ql1 A T 13: 69,886,873 (GRCm39) L196Q probably damaging Het
Ubn1 A T 16: 4,873,188 (GRCm39) N70I probably damaging Het
Ubtf A T 11: 102,205,806 (GRCm39) S40T probably benign Het
Virma C T 4: 11,519,249 (GRCm39) A782V possibly damaging Het
Xdh G T 17: 74,250,868 (GRCm39) T28K probably damaging Het
Xpo4 A G 14: 57,834,508 (GRCm39) S691P probably benign Het
Zfat A C 15: 68,052,301 (GRCm39) F491V probably damaging Het
Zfp623 T G 15: 75,820,154 (GRCm39) V370G probably damaging Het
Other mutations in Myh1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTAAGAACCATCTGGCTGGAG -3'
(R):5'- CTGGATTTCCATCTCGTTCAGG -3'

Sequencing Primer
(F):5'- CTGGAGAAAGAAAGGTGCATAGCTTC -3'
(R):5'- ATCTTCTTCTTGAGCCTGATGG -3'
Posted On 2019-05-13