Incidental Mutation 'R5534:Myh3'
ID 434727
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 043092-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R5534 (G1)
Quality Score 223
Status Not validated
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66987870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1448 (R1448W)
Ref Sequence ENSEMBL: ENSMUSP00000131883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
AlphaFold P13541
Predicted Effect probably damaging
Transcript: ENSMUST00000007301
AA Change: R1448W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: R1448W

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 damaging
Transcript: ENSMUST00000108689
AA Change: R1448W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: R1448W

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 damaging
Transcript: ENSMUST00000165221
AA Change: R1448W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: R1448W

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184592
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,155,530 (GRCm39) D163V probably benign Het
Ank2 A T 3: 126,740,947 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,814,442 (GRCm39) E355G probably damaging Het
Ankmy2 A G 12: 36,232,491 (GRCm39) N172S probably damaging Het
Ankrd50 A G 3: 38,510,231 (GRCm39) M712T probably damaging Het
Apcdd1 T C 18: 63,070,105 (GRCm39) I124T probably benign Het
Carmil3 A G 14: 55,732,347 (GRCm39) K256R probably damaging Het
Cass4 G T 2: 172,268,688 (GRCm39) V259L probably benign Het
Ccdc141 A G 2: 76,888,241 (GRCm39) V508A probably benign Het
Ccdc33 A G 9: 58,024,450 (GRCm39) S226P possibly damaging Het
Cep72 T C 13: 74,210,335 (GRCm39) E9G probably benign Het
Clca4b A T 3: 144,621,227 (GRCm39) Y616N probably damaging Het
Cnot4 A G 6: 35,054,939 (GRCm39) S117P possibly damaging Het
Col11a2 C T 17: 34,269,998 (GRCm39) A429V probably damaging Het
Col4a4 T C 1: 82,465,238 (GRCm39) E979G unknown Het
Coq10b T C 1: 55,103,359 (GRCm39) Y46H possibly damaging Het
Cplane1 C A 15: 8,258,319 (GRCm39) F2188L probably benign Het
Dnah17 T C 11: 117,943,596 (GRCm39) T3169A possibly damaging Het
Dock6 G A 9: 21,714,372 (GRCm39) R1824* probably null Het
Dsp A C 13: 38,379,818 (GRCm39) I1589L probably benign Het
Edil3 A G 13: 89,347,593 (GRCm39) T383A probably benign Het
Efemp1 T C 11: 28,817,758 (GRCm39) V79A probably damaging Het
Esyt1 C T 10: 128,355,329 (GRCm39) V471I probably benign Het
Fbxo30 T C 10: 11,165,409 (GRCm39) S44P possibly damaging Het
Fdx2 G T 9: 20,984,562 (GRCm39) D57E probably benign Het
Gbp11 A T 5: 105,478,904 (GRCm39) V178D probably damaging Het
Gna11 A T 10: 81,366,967 (GRCm39) I283N probably damaging Het
Grid2 A T 6: 63,480,345 (GRCm39) Q53L probably benign Het
Jmjd6 A G 11: 116,731,252 (GRCm39) S266P probably damaging Het
Kirrel1 G A 3: 86,997,825 (GRCm39) R233C probably damaging Het
Kmt2d A G 15: 98,735,238 (GRCm39) probably benign Het
Lama3 A T 18: 12,686,267 (GRCm39) T1171S probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Med13 A T 11: 86,210,191 (GRCm39) S650R probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mgat1 T C 11: 49,151,976 (GRCm39) V153A probably benign Het
Mmp16 A T 4: 18,110,452 (GRCm39) D416V probably damaging Het
Nedd1 A T 10: 92,530,894 (GRCm39) F398L probably benign Het
Or2a14 A G 6: 43,130,567 (GRCm39) I109M probably benign Het
Or4k45 T C 2: 111,395,349 (GRCm39) T147A probably benign Het
Or5ac17 T C 16: 59,036,403 (GRCm39) D191G probably benign Het
Or5g9 T C 2: 85,552,331 (GRCm39) I194T probably benign Het
Otud3 A G 4: 138,624,894 (GRCm39) L269P probably damaging Het
Otx1 A G 11: 21,946,296 (GRCm39) probably benign Het
Pcdhga7 A C 18: 37,849,331 (GRCm39) D446A probably damaging Het
Pcnx2 T G 8: 126,564,754 (GRCm39) K1046N possibly damaging Het
Pfkp C A 13: 6,698,619 (GRCm39) G33W probably damaging Het
Poglut2 C T 1: 44,151,837 (GRCm39) V351M probably damaging Het
Pold1 A G 7: 44,188,043 (GRCm39) I585T probably damaging Het
Pole4 A G 6: 82,629,115 (GRCm39) Y84H possibly damaging Het
Pramel26 G T 4: 143,539,169 (GRCm39) S108* probably null Het
Ptpn23 A G 9: 110,221,809 (GRCm39) S126P possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rin3 T C 12: 102,353,891 (GRCm39) L766P probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rras2 G A 7: 113,649,650 (GRCm39) T138I possibly damaging Het
Scrn2 A G 11: 96,921,751 (GRCm39) I74V probably benign Het
Sema6d T C 2: 124,501,735 (GRCm39) I526T possibly damaging Het
Shd G T 17: 56,278,577 (GRCm39) E47* probably null Het
Slc22a27 T C 19: 7,903,996 (GRCm39) H47R probably damaging Het
Slc36a3 C G 11: 55,033,595 (GRCm39) W141S possibly damaging Het
Slc9c1 T A 16: 45,376,977 (GRCm39) V429E probably benign Het
Smg8 A T 11: 86,976,296 (GRCm39) D428E probably benign Het
Snrpe A T 1: 133,534,211 (GRCm39) F84Y probably benign Het
Tbc1d2b C T 9: 90,109,559 (GRCm39) D306N possibly damaging Het
Trav9n-4 A G 14: 53,532,356 (GRCm39) Y70C probably damaging Het
Tut7 A G 13: 59,936,367 (GRCm39) F843L probably damaging Het
Ush1c A G 7: 45,870,847 (GRCm39) I330T probably damaging Het
Wnt11 T C 7: 98,488,349 (GRCm39) L12P probably damaging Het
Zan A G 5: 137,436,713 (GRCm39) S2047P unknown Het
Zfp763 A C 17: 33,240,768 (GRCm39) S20R probably damaging 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
R4946:Myh3 UTSW 11 66,984,364 (GRCm39) missense probably benign
R5506:Myh3 UTSW 11 66,974,915 (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'- TGCTCGTGGAGAAGATTGAAAC -3'
(R):5'- TTCTCAGTCCATGTCACAATGG -3'

Sequencing Primer
(F):5'- CTCGTGGAGAAGATTGAAACTTAATG -3'
(R):5'- GTCCATGTCACAATGGAGAAAC -3'
Posted On 2016-10-24