Incidental Mutation 'R7611:Myh1'
ID 588616
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 045715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7611 (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 67101243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 673 (H673L)
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: H673L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: H673L

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: H673L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: H673L

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: H673L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: H673L

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: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adcy8 C T 15: 64,792,882 (GRCm39) G25S probably benign Het
Ahnak2 G T 12: 112,751,749 (GRCm39) D35E Het
Birc6 T C 17: 74,969,713 (GRCm39) M4261T probably damaging Het
Caln1 T G 5: 130,534,918 (GRCm39) F45V probably damaging Het
Camta2 A T 11: 70,572,372 (GRCm39) I313N possibly damaging Het
Capns1 T A 7: 29,889,539 (GRCm39) E220V probably damaging Het
Carmil1 C A 13: 24,197,315 (GRCm39) V1374L probably benign Het
Casp2 T G 6: 42,250,972 (GRCm39) L290R possibly damaging Het
Cdkn2b C A 4: 89,228,980 (GRCm39) V19L probably benign Het
Ces1c T C 8: 93,851,139 (GRCm39) N162D probably benign Het
Cfap96 A G 8: 46,423,488 (GRCm39) Y75H probably damaging Het
Chd9 T C 8: 91,763,017 (GRCm39) S2281P probably damaging Het
Chst13 T C 6: 90,285,999 (GRCm39) D321G probably damaging Het
Ckap2l G T 2: 129,127,600 (GRCm39) P193T possibly damaging Het
Clca4b T A 3: 144,627,757 (GRCm39) T405S probably benign Het
Cmah T C 13: 24,619,630 (GRCm39) V265A probably benign Het
Cyp3a11 A T 5: 145,797,191 (GRCm39) M396K probably benign Het
Ddr2 A T 1: 169,825,727 (GRCm39) M291K possibly damaging Het
Ddx43 T A 9: 78,309,635 (GRCm39) I145N probably benign Het
Ephb2 T A 4: 136,388,212 (GRCm39) probably null Het
Fgfr1 A T 8: 26,048,221 (GRCm39) K106* probably null Het
Gpr6 A G 10: 40,946,875 (GRCm39) F236L probably benign Het
Grin2c A G 11: 115,143,511 (GRCm39) S750P probably damaging Het
Hecw2 A G 1: 53,952,459 (GRCm39) S925P probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Hmg20b T A 10: 81,185,432 (GRCm39) probably benign Het
Kcnk10 T A 12: 98,484,899 (GRCm39) Y79F probably damaging Het
Lrrc30 A T 17: 67,939,424 (GRCm39) F52Y probably damaging Het
Lrriq1 T C 10: 103,036,432 (GRCm39) K907R possibly damaging Het
Mbd3 T C 10: 80,231,352 (GRCm39) D63G probably damaging Het
Mettl21a C T 1: 64,654,266 (GRCm39) A84T probably benign Het
Mmp19 A G 10: 128,634,857 (GRCm39) D491G probably benign Het
Mug1 A T 6: 121,852,387 (GRCm39) probably null Het
Nlrc5 T C 8: 95,239,276 (GRCm39) probably null Het
Nme9 T A 9: 99,352,843 (GRCm39) S264R probably benign Het
Nup153 T C 13: 46,840,798 (GRCm39) T937A probably benign Het
Obsl1 T C 1: 75,482,024 (GRCm39) E282G probably damaging Het
Or1o3 A G 17: 37,573,745 (GRCm39) V270A probably benign Het
Or2w2 A G 13: 21,758,488 (GRCm39) V46A probably benign Het
Or4l15 C A 14: 50,198,368 (GRCm39) A54S probably benign Het
Or5an10 T A 19: 12,276,242 (GRCm39) M85L probably damaging Het
Or5b99 T A 19: 12,976,431 (GRCm39) I27N possibly damaging Het
Or5m5 T A 2: 85,814,407 (GRCm39) C74* probably null Het
Or8k30 T A 2: 86,339,397 (GRCm39) I198K possibly damaging Het
Pcdhga12 T C 18: 37,901,478 (GRCm39) F770S possibly damaging Het
Pfkp T A 13: 6,655,119 (GRCm39) probably null Het
Prr29 C G 11: 106,267,158 (GRCm39) H58D probably damaging Het
Ptprz1 T A 6: 23,001,219 (GRCm39) M1103K probably benign Het
Rigi T C 4: 40,225,651 (GRCm39) E250G probably damaging Het
Rsph4a C T 10: 33,781,473 (GRCm39) P108S probably benign Het
Setd1b A C 5: 123,290,657 (GRCm39) M875L unknown Het
Slc15a2 A G 16: 36,576,673 (GRCm39) S485P probably benign Het
Smoc1 A G 12: 81,226,444 (GRCm39) D423G probably damaging Het
Spast T A 17: 74,676,198 (GRCm39) V337D probably damaging Het
Spesp1 T C 9: 62,179,987 (GRCm39) K307R possibly damaging Het
Sulf1 A G 1: 12,906,467 (GRCm39) E503G probably benign Het
Susd6 T C 12: 80,921,341 (GRCm39) Y313H probably damaging Het
Them4 A T 3: 94,238,865 (GRCm39) D224V possibly damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Tspear A T 10: 77,717,049 (GRCm39) T575S probably benign Het
Usp21 A T 1: 171,113,142 (GRCm39) H211Q probably benign Het
Vmn1r189 T C 13: 22,286,322 (GRCm39) S172G probably benign Het
Vmn2r114 T C 17: 23,515,944 (GRCm39) S516G probably damaging Het
Vmn2r28 T A 7: 5,484,255 (GRCm39) R648S probably benign Het
Vmn2r6 C A 3: 64,472,563 (GRCm39) V53F probably damaging Het
Vmn2r76 A G 7: 85,879,388 (GRCm39) I304T probably benign Het
Vmn2r88 A C 14: 51,651,454 (GRCm39) Y256S Het
Zfhx4 A T 3: 5,468,831 (GRCm39) K3021N probably damaging Het
Zfp647 T C 15: 76,795,988 (GRCm39) H224R probably damaging Het
Zfp865 A G 7: 5,034,130 (GRCm39) E705G 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
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
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'- AGCCACGAGTTTGGAAAATTC -3'
(R):5'- TGCATAGAGGATCCTGCTGG -3'

Sequencing Primer
(F):5'- AAAGTGGTGGCTCATGGT -3'
(R):5'- AAGCCCTTCCTGCAGATGC -3'
Posted On 2019-10-24