Incidental Mutation 'R7841:Myh3'
ID 606322
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 045895-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.556) question?
Stock # R7841 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66989518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1546 (E1546G)
Ref Sequence ENSEMBL: ENSMUSP00000007301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
AlphaFold P13541
Predicted Effect probably damaging
Transcript: ENSMUST00000007301
AA Change: E1546G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: E1546G

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: E1546G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: E1546G

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: E1546G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: E1546G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T C 5: 103,802,806 (GRCm39) K16R possibly damaging Het
2810408A11Rik A G 11: 69,790,112 (GRCm39) F210L probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
B9d1 A G 11: 61,397,192 (GRCm39) Y29C possibly damaging Het
Cald1 T C 6: 34,722,696 (GRCm39) F115L unknown Het
Ccnd1 A T 7: 144,491,718 (GRCm39) M107K probably damaging Het
Ccnh G A 13: 85,337,712 (GRCm39) A20T probably benign Het
Cep162 T C 9: 87,126,369 (GRCm39) D181G probably benign Het
Cep44 AACGC A 8: 56,994,018 (GRCm39) probably null Het
Ces2b A G 8: 105,561,692 (GRCm39) D262G probably benign Het
Cic A G 7: 24,985,192 (GRCm39) Y1146C probably damaging Het
Cmtm1 G A 8: 105,036,108 (GRCm39) R174C possibly damaging Het
Cobl G T 11: 12,203,324 (GRCm39) P1126H probably damaging Het
Col14a1 T A 15: 55,245,876 (GRCm39) M460K unknown Het
Cst11 G A 2: 148,613,227 (GRCm39) R33W possibly damaging Het
Cyp19a1 A T 9: 54,079,089 (GRCm39) V340E probably benign Het
Dbt A T 3: 116,339,746 (GRCm39) Q378L possibly damaging Het
Dchs1 A G 7: 105,412,180 (GRCm39) V1312A probably benign Het
Eif3l T C 15: 78,973,779 (GRCm39) M398T probably benign Het
Faxc A G 4: 21,958,584 (GRCm39) H247R probably benign Het
Fbxl17 T C 17: 63,794,820 (GRCm39) R421G probably damaging Het
Fbxo3 T A 2: 103,890,337 (GRCm39) D450E unknown Het
Fmn1 T C 2: 113,359,810 (GRCm39) probably null Het
Foxs1 T A 2: 152,774,907 (GRCm39) M49L possibly damaging Het
Gucy1a2 A G 9: 3,634,766 (GRCm39) E270G probably benign Het
Helz2 T C 2: 180,874,695 (GRCm39) D1933G probably damaging Het
Hspa4 G A 11: 53,157,887 (GRCm39) A572V possibly damaging Het
Ica1 T A 6: 8,737,072 (GRCm39) D174V probably damaging Het
Igfbp6 A T 15: 102,056,352 (GRCm39) Q137L possibly damaging Het
Il1r2 T C 1: 40,144,628 (GRCm39) L105P probably damaging Het
Iqca1 A T 1: 89,987,337 (GRCm39) C72S Het
Itgbl1 T C 14: 124,209,645 (GRCm39) probably null Het
Ivl T A 3: 92,479,699 (GRCm39) Q122L possibly damaging Het
Kdsr T C 1: 106,671,415 (GRCm39) E198G probably damaging Het
Lama2 T C 10: 27,031,529 (GRCm39) T1510A probably benign Het
Lrrc37a A T 11: 103,391,931 (GRCm39) Y1165N probably benign Het
Mycbp2 A G 14: 103,384,267 (GRCm39) probably null Het
Nacad A T 11: 6,551,031 (GRCm39) V720E probably benign Het
Napa A G 7: 15,849,559 (GRCm39) D257G possibly damaging Het
Nif3l1 T C 1: 58,487,042 (GRCm39) V76A probably damaging Het
Nkapd1 A C 9: 50,521,716 (GRCm39) S68R probably damaging Het
Nphp4 G A 4: 152,581,140 (GRCm39) S108N probably benign Het
Npr1 A T 3: 90,362,175 (GRCm39) L990H probably damaging Het
Nup205 A G 6: 35,224,372 (GRCm39) R322G unknown Het
Or4a79 C A 2: 89,552,309 (GRCm39) A49S probably benign Het
Or4q3 G T 14: 50,583,285 (GRCm39) Q174K probably benign Het
Or52n2c T A 7: 104,574,066 (GRCm39) I302F possibly damaging Het
Or8c14-ps1 T G 9: 38,101,777 (GRCm39) M252R unknown Het
Or8c19-ps1 T A 9: 38,220,817 (GRCm39) V242E unknown Het
Ovch2 G T 7: 107,393,298 (GRCm39) Q192K probably benign Het
Pcca T A 14: 122,800,384 (GRCm39) D91E probably benign Het
Pole2 T C 12: 69,251,032 (GRCm39) T444A probably damaging Het
Ppip5k1 T C 2: 121,173,276 (GRCm39) K466E probably benign Het
Prr35 A T 17: 26,167,458 (GRCm39) Y26* probably null Het
Ptgfrn A T 3: 100,968,126 (GRCm39) I489N probably damaging Het
Rassf1 A G 9: 107,438,744 (GRCm39) *341W probably null Het
Ret G A 6: 118,132,321 (GRCm39) P1040S probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Slc6a17 A T 3: 107,384,214 (GRCm39) Y377N possibly damaging Het
Snrnp200 C A 2: 127,078,754 (GRCm39) D1806E probably benign Het
Synj2 G A 17: 6,094,419 (GRCm39) R1215H unknown Het
Tbc1d5 TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG TTGCTGCTG 17: 51,106,950 (GRCm39) probably benign Het
Top2a A T 11: 98,913,176 (GRCm39) D85E probably damaging Het
Tram1l1 A T 3: 124,115,353 (GRCm39) Q171L probably damaging Het
Tram1l1 G T 3: 124,115,354 (GRCm39) Q171H probably damaging Het
Tspyl4 A G 10: 34,174,267 (GRCm39) H253R probably damaging Het
Ttn T C 2: 76,662,490 (GRCm39) I23V Het
Ubr5 T C 15: 37,981,150 (GRCm39) N2376D Het
Ugt2b37 T C 5: 87,398,489 (GRCm39) N316D probably benign Het
Usp31 A C 7: 121,247,679 (GRCm39) S1255A probably benign Het
Usp31 A T 7: 121,276,535 (GRCm39) V334E probably damaging Het
Vmn2r108 A G 17: 20,690,305 (GRCm39) probably null Het
Vmn2r87 T A 10: 130,333,095 (GRCm39) T52S probably benign Het
Vrk2 C A 11: 26,421,457 (GRCm39) L500F probably damaging Het
Zan T A 5: 137,435,064 (GRCm39) I2110F unknown 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
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
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'- TTCACATTCCCAGGAGCCTG -3'
(R):5'- CTAAGGGTTTGCAAATTTTCAGCC -3'

Sequencing Primer
(F):5'- ATTCCCAGGAGCCTGTGCAG -3'
(R):5'- GGGTTTGCAAATTTTCAGCCGTAAAC -3'
Posted On 2019-12-20