Incidental Mutation 'R9366:Myh1'
ID 708996
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 # R9366 (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 T at 67110114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1434 (D1434V)
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: D1434V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: D1434V

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 probably damaging
Transcript: ENSMUST00000075734
AA Change: D1434V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: D1434V

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 probably damaging
Transcript: ENSMUST00000124516
AA Change: D1434V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: D1434V

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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C T 8: 71,914,328 (GRCm39) R100Q probably benign Het
Acp5 C T 9: 22,039,224 (GRCm39) C163Y probably damaging Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Atp2b4 C A 1: 133,642,920 (GRCm39) G1062C probably damaging Het
Bicral A T 17: 47,117,558 (GRCm39) M788K possibly damaging Het
C1s2 C A 6: 124,602,694 (GRCm39) A506S probably benign Het
Capn9 C G 8: 125,332,280 (GRCm39) T417S probably benign Het
Cd109 T G 9: 78,622,275 (GRCm39) S1422A probably benign Het
Cd207 G T 6: 83,648,779 (GRCm39) N294K probably damaging Het
Cdc42bpa A G 1: 179,921,675 (GRCm39) E605G probably damaging Het
Cdhr1 C A 14: 36,811,463 (GRCm39) G216V possibly damaging Het
Ckap2 A T 8: 22,658,988 (GRCm39) M585K possibly damaging Het
Clp1 G T 2: 84,556,473 (GRCm39) S2R probably benign Het
Cngb3 G T 4: 19,395,983 (GRCm39) V342F probably benign Het
Col18a1 T C 10: 76,932,258 (GRCm39) D65G unknown Het
Col3a1 C T 1: 45,380,391 (GRCm39) P972S unknown Het
Cxcr5 C T 9: 44,424,730 (GRCm39) C309Y possibly damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcc A T 18: 71,708,281 (GRCm39) N478K probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Emsy A T 7: 98,290,860 (GRCm39) N101K probably benign Het
Epb41l5 A G 1: 119,548,448 (GRCm39) Y137H probably damaging Het
Etfdh C T 3: 79,519,271 (GRCm39) G354D probably benign Het
Fa2h A T 8: 112,076,006 (GRCm39) Y206N probably benign Het
Gabrr2 T C 4: 33,085,771 (GRCm39) V217A Het
Gimap4 A G 6: 48,668,037 (GRCm39) K264R probably benign Het
Gpr31b C A 17: 13,270,375 (GRCm39) D265Y probably damaging Het
Irx4 A G 13: 73,417,025 (GRCm39) T474A probably benign Het
Kif21a T C 15: 90,843,951 (GRCm39) E1096G probably damaging Het
Letm2 A T 8: 26,084,165 (GRCm39) V22E probably damaging Het
Lrrc45 A G 11: 120,611,552 (GRCm39) E642G probably damaging Het
Mark1 A T 1: 184,653,792 (GRCm39) V170E probably damaging Het
Mbd6 G A 10: 127,122,304 (GRCm39) Q175* probably null Het
Mrc1 T A 2: 14,321,709 (GRCm39) D1067E probably damaging Het
Muc5b A G 7: 141,417,041 (GRCm39) H3329R probably benign Het
Myo5a T A 9: 75,124,800 (GRCm39) L1785Q probably damaging Het
Myrfl A G 10: 116,670,358 (GRCm39) I295T possibly damaging Het
Nav3 C A 10: 109,659,364 (GRCm39) R751L probably damaging Het
Neb T C 2: 52,172,699 (GRCm39) K1536R probably benign Het
Nynrin T G 14: 56,100,587 (GRCm39) S126A probably damaging Het
Or13p3 A T 4: 118,566,831 (GRCm39) T76S probably damaging Het
Or5m8 A G 2: 85,822,731 (GRCm39) D190G possibly damaging Het
Or6c69c A T 10: 129,911,067 (GRCm39) K263* probably null Het
Parp14 A C 16: 35,659,630 (GRCm39) probably null Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pin1 C A 9: 20,566,841 (GRCm39) T81N probably damaging Het
Pkhd1l1 T C 15: 44,410,308 (GRCm39) I2605T probably benign Het
Plcb3 A G 19: 6,937,658 (GRCm39) probably null Het
Proser3 G A 7: 30,248,478 (GRCm39) S72L probably damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Pwp1 T A 10: 85,717,870 (GRCm39) N269K probably damaging Het
Qsox1 A G 1: 155,665,162 (GRCm39) S260P probably benign Het
Ric3 A G 7: 108,653,644 (GRCm39) L149P probably damaging Het
Rif1 A G 2: 52,010,356 (GRCm39) T707A Het
Rnf213 A C 11: 119,327,057 (GRCm39) R1682S Het
Rpgrip1l G T 8: 91,996,809 (GRCm39) Y690* probably null Het
Slc29a2 A G 19: 5,074,609 (GRCm39) T34A probably damaging Het
Slc6a1 A G 6: 114,280,974 (GRCm39) N176S possibly damaging Het
Slco1b2 T A 6: 141,602,552 (GRCm39) Y168* probably null Het
Snca C A 6: 60,792,675 (GRCm39) A78S probably benign Het
Snrnp200 T A 2: 127,058,010 (GRCm39) D257E probably benign Het
Srebf2 T C 15: 82,083,837 (GRCm39) V959A probably benign Het
Stk3 A C 15: 35,072,634 (GRCm39) I209S probably damaging Het
Thsd7a A T 6: 12,555,480 (GRCm39) C135S Het
Tlnrd1 G T 7: 83,531,582 (GRCm39) A283E probably benign Het
Tomm70a A T 16: 56,970,259 (GRCm39) K546* probably null Het
Trak1 C T 9: 121,301,578 (GRCm39) T778I probably damaging Het
Trappc9 T C 15: 72,808,937 (GRCm39) I709V probably benign Het
Trgc3 A G 13: 19,446,825 (GRCm39) T115A probably benign Het
Trp53rkb T C 2: 166,637,700 (GRCm39) S219P possibly damaging Het
Ubqlnl G C 7: 103,798,592 (GRCm39) L302V possibly damaging Het
Uqcc1 C A 2: 155,771,995 (GRCm39) probably benign Het
Vps13a G A 19: 16,672,894 (GRCm39) R1293W probably damaging Het
Vps9d1 G T 8: 123,974,486 (GRCm39) S267* probably null Het
Vwa5b1 A T 4: 138,318,229 (GRCm39) I546N probably damaging Het
Zbtb8b A T 4: 129,326,151 (GRCm39) M338K probably benign Het
Zfp652 C T 11: 95,643,833 (GRCm39) R344* probably null 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
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
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'- ACACTGGTTGGGGAAGTCTG -3'
(R):5'- GCTGTGTGTTCTAGAAACTCTG -3'

Sequencing Primer
(F):5'- GGAAGTCTGGCTTTGGAAATACTCAC -3'
(R):5'- CTCTGAGTTTGATCTGAGTGGTCTC -3'
Posted On 2022-04-18