Incidental Mutation 'R5303:Myh1'
ID 404364
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 042886-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5303 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 67090922-67115401 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67092843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 46 (S46P)
Ref Sequence ENSEMBL: ENSMUSP00000115583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018637] [ENSMUST00000018641] [ENSMUST00000075734] [ENSMUST00000124516] [ENSMUST00000129018] [ENSMUST00000170159]
AlphaFold Q5SX40
Predicted Effect probably benign
Transcript: ENSMUST00000018637
AA Change: S46P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: S46P

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 benign
Transcript: ENSMUST00000018641
SMART Domains Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 2.1e-16 PFAM
MYSc 80 786 N/A SMART
IQ 787 809 3.13e-3 SMART
IQ 813 835 3.14e2 SMART
low complexity region 850 862 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: S46P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: S46P

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 benign
Transcript: ENSMUST00000124516
AA Change: S46P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: S46P

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 benign
Transcript: ENSMUST00000129018
AA Change: S46P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115583
Gene: ENSMUSG00000056328
AA Change: S46P

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 1.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145346
Predicted Effect probably benign
Transcript: ENSMUST00000170159
SMART Domains Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196

DomainStartEndE-ValueType
Pfam:Myosin_N 35 74 1.4e-14 PFAM
MYSc 80 786 N/A SMART
IQ 787 809 3.13e-3 SMART
IQ 813 835 3.14e2 SMART
Pfam:Myosin_tail_1 850 1931 4e-166 PFAM
Meta Mutation Damage Score 0.1439 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (63/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
4921504E06Rik A G 2: 19,521,110 (GRCm39) Y256H possibly damaging Het
Abcc12 C A 8: 87,236,415 (GRCm39) R1133L probably benign Het
Acss3 T A 10: 106,920,712 (GRCm39) T133S possibly damaging Het
Adra1d G A 2: 131,388,169 (GRCm39) P462L possibly damaging Het
Ank2 A T 3: 126,739,453 (GRCm39) probably benign Het
Arid2 G A 15: 96,290,349 (GRCm39) R1748Q probably damaging Het
B3glct C T 5: 149,677,488 (GRCm39) probably benign Het
C3ar1 A T 6: 122,826,794 (GRCm39) S474R probably damaging Het
Cd1d1 A G 3: 86,905,427 (GRCm39) F189L probably benign Het
Cd46 T C 1: 194,744,707 (GRCm39) I344V probably benign Het
Chrna1 T C 2: 73,396,618 (GRCm39) M426V probably benign Het
Cinp G A 12: 110,843,295 (GRCm39) T139M probably damaging Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Disp2 T C 2: 118,641,329 (GRCm39) probably benign Het
Dnaaf6rt G A 1: 31,262,537 (GRCm39) R173H probably damaging Het
Eapp G A 12: 54,739,703 (GRCm39) P38L probably damaging Het
Eif4g3 T C 4: 137,853,873 (GRCm39) S480P probably benign Het
Epb41l3 G C 17: 69,564,444 (GRCm39) E390Q probably damaging Het
Fermt1 T C 2: 132,753,259 (GRCm39) probably null Het
Foxf2 T A 13: 31,810,463 (GRCm39) F134Y possibly damaging Het
Foxp2 T A 6: 15,324,636 (GRCm39) C95S probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria1 A G 11: 57,133,851 (GRCm39) T577A probably benign Het
Hal A G 10: 93,352,227 (GRCm39) probably benign Het
Hdac7 C A 15: 97,695,899 (GRCm39) E670D probably damaging Het
Islr2 A T 9: 58,115,558 (GRCm39) probably benign Het
Itpr3 T C 17: 27,335,663 (GRCm39) Y2258H probably benign Het
Mical3 G T 6: 120,936,941 (GRCm39) T1195K probably benign Het
Mylk3 T A 8: 86,077,105 (GRCm39) I444F probably damaging Het
Nlrc3 A T 16: 3,781,478 (GRCm39) C644S probably benign Het
Notch1 C T 2: 26,368,631 (GRCm39) V553M probably benign Het
Or10g9 A G 9: 39,911,884 (GRCm39) I213T probably damaging Het
Or4a72 T A 2: 89,405,345 (GRCm39) I242F possibly damaging Het
Or51a43 T C 7: 103,718,239 (GRCm39) probably benign Het
Or5b102 T A 19: 13,041,139 (GRCm39) Y121* probably null Het
Postn A G 3: 54,285,018 (GRCm39) T669A probably damaging Het
Ppp5c G T 7: 16,739,209 (GRCm39) Q472K probably benign Het
Qsox1 T C 1: 155,655,039 (GRCm39) H708R probably benign Het
Rhbdl2 A G 4: 123,704,014 (GRCm39) probably benign Het
Ryr1 C T 7: 28,767,907 (GRCm39) E2884K probably damaging Het
Saysd1 T C 14: 20,133,026 (GRCm39) T44A probably benign Het
Septin14 T A 5: 129,766,712 (GRCm39) M290L possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc38a8 C A 8: 120,212,780 (GRCm39) V294L possibly damaging Het
Spdye4b C T 5: 143,188,158 (GRCm39) T217I probably benign Het
Sugp2 T A 8: 70,694,827 (GRCm39) probably benign Het
Syne1 T C 10: 5,370,464 (GRCm39) T232A probably benign Het
Tbc1d5 A T 17: 51,043,228 (GRCm39) D753E probably benign Het
Tmed1 G T 9: 21,421,343 (GRCm39) Q44K possibly damaging Het
Ttc6 T A 12: 57,622,606 (GRCm39) S2T possibly damaging Het
Ube4b T C 4: 149,468,260 (GRCm39) D172G probably damaging Het
Vmn1r235 C A 17: 21,482,268 (GRCm39) Q198K probably benign Het
Wdfy3 T C 5: 102,100,849 (GRCm39) H256R probably damaging Het
Zfat A T 15: 67,982,335 (GRCm39) H1059Q probably damaging Het
Zfp758 A G 17: 22,593,842 (GRCm39) I77M probably benign Het
Zfp850 C T 7: 27,707,838 (GRCm39) A2T probably damaging Het
Zfyve1 A T 12: 83,621,830 (GRCm39) N188K probably damaging Het
Zyg11a C T 4: 108,041,629 (GRCm39) 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
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'- CCCAGTGCAATGCATTCACC -3'
(R):5'- TTCATGGGGTAGACCTGATCATC -3'

Sequencing Primer
(F):5'- GCATTCACCTAACTGTCAGGGAATG -3'
(R):5'- ATGGGGTAGACCTGATCATCTTTTAC -3'
Posted On 2016-07-22