Incidental Mutation 'R4946:Myh3'
ID 383434
Institutional Source Beutler Lab
Gene Symbol Myh3
Ensembl Gene ENSMUSG00000020908
Gene Name myosin, heavy polypeptide 3, skeletal muscle, embryonic
Synonyms Myhse, Myhs-e, MyHC-emb
MMRRC Submission 042543-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R4946 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66984364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1067 (I1067T)
Ref Sequence ENSEMBL: ENSMUSP00000131883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
AlphaFold P13541
Predicted Effect probably benign
Transcript: ENSMUST00000007301
AA Change: I1067T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: I1067T

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 1.1e-14 PFAM
MYSc 80 780 N/A SMART
IQ 781 803 1.65e-2 SMART
IQ 807 829 2.25e2 SMART
low complexity region 844 856 N/A INTRINSIC
low complexity region 925 939 N/A INTRINSIC
low complexity region 1020 1028 N/A INTRINSIC
Pfam:Myosin_tail_1 1069 1927 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108689
AA Change: I1067T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: I1067T

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 1.1e-14 PFAM
MYSc 80 780 N/A SMART
IQ 781 803 1.65e-2 SMART
IQ 807 829 2.25e2 SMART
low complexity region 844 856 N/A INTRINSIC
low complexity region 925 939 N/A INTRINSIC
low complexity region 1020 1028 N/A INTRINSIC
Pfam:Myosin_tail_1 1069 1927 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165221
AA Change: I1067T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: I1067T

DomainStartEndE-ValueType
Pfam:Myosin_N 35 74 2.2e-13 PFAM
MYSc 80 780 N/A SMART
IQ 781 803 1.65e-2 SMART
IQ 807 829 2.25e2 SMART
Pfam:Myosin_tail_1 844 1925 2.1e-164 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: 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. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,977,300 (GRCm39) D98G probably damaging Het
Adgre1 G A 17: 57,750,918 (GRCm39) V531I probably benign Het
Aldoart2 A G 12: 55,612,801 (GRCm39) Q242R probably benign Het
Ank2 A T 3: 126,735,589 (GRCm39) probably benign Het
Ank3 C T 10: 69,733,947 (GRCm39) A737V probably damaging Het
Ankle2 A G 5: 110,401,704 (GRCm39) I789V probably benign Het
Ankrd13c T C 3: 157,711,410 (GRCm39) V510A probably damaging Het
Arid1b T A 17: 5,393,118 (GRCm39) M2216K probably damaging Het
Arrdc1 A G 2: 24,815,860 (GRCm39) V380A probably benign Het
B3galt1 C A 2: 67,948,913 (GRCm39) N209K possibly damaging Het
Cd300c2 A T 11: 114,887,731 (GRCm39) C224S probably benign Het
Cdk4 T C 10: 126,900,759 (GRCm39) probably null Het
Cdk5rap1 T C 2: 154,210,794 (GRCm39) T115A possibly damaging Het
Clvs1 A T 4: 9,281,831 (GRCm39) R92* probably null Het
Cnga1 A G 5: 72,762,107 (GRCm39) V469A probably damaging Het
Ctns A G 11: 73,087,479 (GRCm39) F16L probably benign Het
Dlg5 A T 14: 24,204,429 (GRCm39) C1299S probably damaging Het
Dnah3 T A 7: 119,530,783 (GRCm39) Y3690F probably damaging Het
Dnah5 A G 15: 28,326,703 (GRCm39) M1971V probably damaging Het
Dnah5 G A 15: 28,388,050 (GRCm39) V3170M probably damaging Het
Dpp8 T C 9: 64,963,200 (GRCm39) Y485H probably benign Het
Dsc2 T C 18: 20,183,214 (GRCm39) D68G probably damaging Het
Eeig2 A G 3: 108,887,544 (GRCm39) V240A probably benign Het
Elavl1 A T 8: 4,351,752 (GRCm39) D121E probably benign Het
Ermap A G 4: 119,040,505 (GRCm39) V311A probably damaging Het
Fbxw11 C T 11: 32,689,226 (GRCm39) R437C probably damaging Het
Gas2l3 T C 10: 89,249,634 (GRCm39) M495V probably benign Het
Hacd1 C T 2: 14,049,948 (GRCm39) probably null Het
Itgav A G 2: 83,619,327 (GRCm39) R596G probably benign Het
Kars1 T C 8: 112,728,352 (GRCm39) H215R possibly damaging Het
Kif26a G A 12: 112,144,228 (GRCm39) R1494H probably damaging Het
Klf12 G A 14: 100,260,393 (GRCm39) S112L possibly damaging Het
Krt77 T C 15: 101,777,998 (GRCm39) Y19C unknown Het
Lrrc4c A G 2: 97,460,834 (GRCm39) T487A probably benign Het
Lrrn1 A G 6: 107,545,851 (GRCm39) M550V probably benign Het
Lsr C A 7: 30,657,634 (GRCm39) R442L probably benign Het
Lysmd2 A C 9: 75,542,728 (GRCm39) T112P probably damaging Het
Mctp2 A T 7: 71,909,017 (GRCm39) S99T probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mill2 T A 7: 18,590,608 (GRCm39) probably null Het
Mpp3 T C 11: 101,895,848 (GRCm39) N476D probably benign Het
Mtmr6 C T 14: 60,517,638 (GRCm39) P83L possibly damaging Het
Myh9 C A 15: 77,657,540 (GRCm39) Q1068H probably damaging Het
Narf T A 11: 121,141,179 (GRCm39) H304Q possibly damaging Het
Nfatc2ip G T 7: 125,995,784 (GRCm39) P35Q possibly damaging Het
Npas3 C A 12: 54,112,618 (GRCm39) P426Q probably damaging Het
Or10aa3 T G 1: 173,878,400 (GRCm39) S154A possibly damaging Het
Or4e1 G A 14: 52,700,740 (GRCm39) T242I probably damaging Het
Or4f4b T C 2: 111,314,311 (GRCm39) Y207H possibly damaging Het
Or51i1 T A 7: 103,671,219 (GRCm39) Q102L probably damaging Het
Or5p5 A G 7: 107,414,589 (GRCm39) H266R possibly damaging Het
Pcdh10 A T 3: 45,333,917 (GRCm39) E77V probably damaging Het
Pcnt C T 10: 76,192,019 (GRCm39) R2764Q probably damaging Het
Pgbd5 T C 8: 125,097,324 (GRCm39) D493G possibly damaging Het
Piezo2 G T 18: 63,290,333 (GRCm39) T142N probably benign Het
Plcb1 A G 2: 135,187,015 (GRCm39) I761V probably benign Het
Plekhg4 T G 8: 106,108,628 (GRCm39) D1196E probably null Het
Pparg A G 6: 115,427,989 (GRCm39) K159E probably damaging Het
Psmb1 A T 17: 15,718,478 (GRCm39) M16K probably benign Het
Ptprq T C 10: 107,361,595 (GRCm39) I2139V probably benign Het
Ralgapb T A 2: 158,282,887 (GRCm39) S239T probably damaging Het
Serpina11 A G 12: 103,950,923 (GRCm39) V266A probably damaging Het
Sf3a2 C G 10: 80,639,947 (GRCm39) probably benign Het
Smim18 T C 8: 34,232,587 (GRCm39) T11A possibly damaging Het
Snx6 G A 12: 54,817,528 (GRCm39) T7I probably damaging Het
Srcin1 T A 11: 97,442,768 (GRCm39) D75V probably damaging Het
Srsf12 T A 4: 33,231,174 (GRCm39) S223T probably damaging Het
Taf4b G T 18: 14,946,599 (GRCm39) C474F probably damaging Het
Tango6 T A 8: 107,444,722 (GRCm39) C542* probably null Het
Tbc1d24 A G 17: 24,427,510 (GRCm39) S151P possibly damaging Het
Tssk6 T C 8: 70,355,714 (GRCm39) S253P probably benign Het
Ttc39c G A 18: 12,857,999 (GRCm39) W300* probably null Het
Ttc6 T A 12: 57,689,926 (GRCm39) W539R probably benign Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ttn C A 2: 76,749,053 (GRCm39) E3999* probably null Het
Vill T G 9: 118,897,508 (GRCm39) L261R probably damaging Het
Vmn1r20 T C 6: 57,409,159 (GRCm39) S162P probably damaging Het
Zfp516 T C 18: 82,974,219 (GRCm39) I139T probably benign Het
Other mutations in Myh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Myh3 APN 11 66,981,681 (GRCm39) missense probably damaging 1.00
IGL01989:Myh3 APN 11 66,977,481 (GRCm39) missense probably damaging 1.00
IGL02097:Myh3 APN 11 66,973,750 (GRCm39) missense probably benign
IGL02197:Myh3 APN 11 66,989,409 (GRCm39) missense probably benign 0.05
IGL02458:Myh3 APN 11 66,987,766 (GRCm39) missense possibly damaging 0.87
IGL02526:Myh3 APN 11 66,978,371 (GRCm39) missense probably benign 0.01
IGL02559:Myh3 APN 11 66,991,921 (GRCm39) missense possibly damaging 0.94
IGL02600:Myh3 APN 11 66,974,227 (GRCm39) missense probably damaging 1.00
IGL02866:Myh3 APN 11 66,979,849 (GRCm39) missense probably benign 0.08
IGL02943:Myh3 APN 11 66,981,891 (GRCm39) missense probably benign 0.02
IGL03087:Myh3 APN 11 66,981,798 (GRCm39) missense probably damaging 1.00
IGL03131:Myh3 APN 11 66,981,935 (GRCm39) splice site probably benign
bud UTSW 11 66,986,833 (GRCm39) critical splice acceptor site probably null
R0049:Myh3 UTSW 11 66,990,498 (GRCm39) missense probably damaging 1.00
R0157:Myh3 UTSW 11 66,973,735 (GRCm39) missense probably benign 0.00
R0266:Myh3 UTSW 11 66,984,498 (GRCm39) missense possibly damaging 0.73
R0352:Myh3 UTSW 11 66,981,254 (GRCm39) missense possibly damaging 0.79
R0391:Myh3 UTSW 11 66,987,333 (GRCm39) splice site probably benign
R0926:Myh3 UTSW 11 66,981,340 (GRCm39) splice site probably null
R1243:Myh3 UTSW 11 66,981,279 (GRCm39) missense possibly damaging 0.80
R1344:Myh3 UTSW 11 66,983,158 (GRCm39) missense probably benign 0.03
R1414:Myh3 UTSW 11 66,989,491 (GRCm39) missense probably damaging 0.98
R1442:Myh3 UTSW 11 66,978,103 (GRCm39) missense possibly damaging 0.77
R1470:Myh3 UTSW 11 66,988,885 (GRCm39) splice site probably benign
R1480:Myh3 UTSW 11 66,984,371 (GRCm39) missense possibly damaging 0.88
R1598:Myh3 UTSW 11 66,983,997 (GRCm39) missense probably damaging 1.00
R1620:Myh3 UTSW 11 66,979,562 (GRCm39) splice site probably benign
R1682:Myh3 UTSW 11 66,979,891 (GRCm39) missense probably damaging 1.00
R1759:Myh3 UTSW 11 66,987,717 (GRCm39) missense probably damaging 0.98
R1772:Myh3 UTSW 11 66,990,220 (GRCm39) missense probably benign 0.32
R1868:Myh3 UTSW 11 66,975,852 (GRCm39) missense probably benign 0.34
R1874:Myh3 UTSW 11 66,984,005 (GRCm39) missense probably benign 0.03
R1885:Myh3 UTSW 11 66,977,453 (GRCm39) missense probably benign 0.23
R1923:Myh3 UTSW 11 66,970,828 (GRCm39) missense probably benign 0.00
R2145:Myh3 UTSW 11 66,981,882 (GRCm39) missense probably benign
R3973:Myh3 UTSW 11 66,987,262 (GRCm39) nonsense probably null
R4410:Myh3 UTSW 11 66,975,858 (GRCm39) missense possibly damaging 0.71
R4583:Myh3 UTSW 11 66,987,279 (GRCm39) nonsense probably null
R4650:Myh3 UTSW 11 66,977,270 (GRCm39) missense probably damaging 1.00
R4822:Myh3 UTSW 11 66,979,836 (GRCm39) missense probably benign
R4836:Myh3 UTSW 11 66,987,765 (GRCm39) missense probably benign 0.01
R4898:Myh3 UTSW 11 66,990,233 (GRCm39) missense probably benign 0.05
R5506:Myh3 UTSW 11 66,974,915 (GRCm39) missense probably damaging 1.00
R5534:Myh3 UTSW 11 66,987,870 (GRCm39) missense probably damaging 1.00
R5733:Myh3 UTSW 11 66,979,445 (GRCm39) missense probably benign 0.24
R5889:Myh3 UTSW 11 66,977,201 (GRCm39) missense probably damaging 1.00
R6056:Myh3 UTSW 11 66,978,371 (GRCm39) missense probably benign 0.01
R6223:Myh3 UTSW 11 66,988,843 (GRCm39) missense probably benign
R6228:Myh3 UTSW 11 66,978,312 (GRCm39) missense probably benign 0.17
R6341:Myh3 UTSW 11 66,973,822 (GRCm39) missense probably benign 0.00
R6434:Myh3 UTSW 11 66,973,193 (GRCm39) missense probably damaging 1.00
R6533:Myh3 UTSW 11 66,981,245 (GRCm39) missense probably damaging 0.96
R6812:Myh3 UTSW 11 66,977,228 (GRCm39) missense probably damaging 0.99
R7336:Myh3 UTSW 11 66,981,847 (GRCm39) missense probably benign 0.13
R7354:Myh3 UTSW 11 66,987,708 (GRCm39) missense probably damaging 1.00
R7498:Myh3 UTSW 11 66,987,874 (GRCm39) missense possibly damaging 0.96
R7532:Myh3 UTSW 11 66,981,921 (GRCm39) missense probably benign
R7841:Myh3 UTSW 11 66,989,518 (GRCm39) missense probably damaging 1.00
R7878:Myh3 UTSW 11 66,978,077 (GRCm39) missense probably damaging 1.00
R8169:Myh3 UTSW 11 66,979,856 (GRCm39) missense probably benign 0.06
R8194:Myh3 UTSW 11 66,982,828 (GRCm39) missense probably damaging 1.00
R8215:Myh3 UTSW 11 66,992,005 (GRCm39) missense probably damaging 0.99
R8240:Myh3 UTSW 11 66,983,196 (GRCm39) missense probably benign 0.01
R8255:Myh3 UTSW 11 66,985,848 (GRCm39) missense probably damaging 1.00
R8310:Myh3 UTSW 11 66,986,833 (GRCm39) critical splice acceptor site probably null
R9103:Myh3 UTSW 11 66,989,451 (GRCm39) missense probably benign 0.01
R9249:Myh3 UTSW 11 66,975,855 (GRCm39) missense probably benign 0.12
R9307:Myh3 UTSW 11 66,984,397 (GRCm39) missense possibly damaging 0.57
R9430:Myh3 UTSW 11 66,982,726 (GRCm39) missense possibly damaging 0.94
R9529:Myh3 UTSW 11 66,979,556 (GRCm39) critical splice donor site probably null
R9558:Myh3 UTSW 11 66,983,316 (GRCm39) missense possibly damaging 0.89
R9565:Myh3 UTSW 11 66,983,187 (GRCm39) nonsense probably null
R9691:Myh3 UTSW 11 66,991,921 (GRCm39) missense possibly damaging 0.94
R9790:Myh3 UTSW 11 66,992,005 (GRCm39) missense probably damaging 0.99
R9791:Myh3 UTSW 11 66,992,005 (GRCm39) missense probably damaging 0.99
RF009:Myh3 UTSW 11 66,977,183 (GRCm39) frame shift probably null
RF009:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
RF009:Myh3 UTSW 11 66,977,181 (GRCm39) frame shift probably null
RF010:Myh3 UTSW 11 66,977,185 (GRCm39) frame shift probably null
RF010:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
RF013:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
RF015:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
X0060:Myh3 UTSW 11 66,985,824 (GRCm39) missense probably benign 0.00
X0062:Myh3 UTSW 11 66,979,942 (GRCm39) missense probably benign 0.03
Z1176:Myh3 UTSW 11 66,973,241 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GGCATCAGTCTCAGGAGTCTTAAG -3'
(R):5'- AGGCTCAAGGTCTGCTCATC -3'

Sequencing Primer
(F):5'- CAGTCTCAGGAGTCTTAAGGCTTCAG -3'
(R):5'- AAGGTCTGCTCATCTTCCAC -3'
Posted On 2016-04-27