Incidental Mutation 'R6232:Myh7'
ID 504704
Institutional Source Beutler Lab
Gene Symbol Myh7
Ensembl Gene ENSMUSG00000053093
Gene Name myosin, heavy polypeptide 7, cardiac muscle, beta
Synonyms beta-MHC, MyHC-I, MYH-beta/slow, betaMHC, Myhcb, Myhc-b, B-MHC
MMRRC Submission 044360-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R6232 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55226753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 366 (Q366L)
Ref Sequence ENSEMBL: ENSMUSP00000126840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000102803
AA Change: Q366L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: Q366L

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Myosin_N 34 73 3.8e-16 PFAM
MYSc 79 779 N/A SMART
IQ 780 802 2.5e-2 SMART
Pfam:Myosin_tail_1 843 1924 5.6e-168 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149852
Predicted Effect probably benign
Transcript: ENSMUST00000153783
SMART Domains Protein: ENSMUSP00000116595
Gene: ENSMUSG00000053093

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Myosin_N 34 61 8.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168485
AA Change: Q366L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: Q366L

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Myosin_N 34 75 1.6e-17 PFAM
MYSc 79 779 N/A SMART
IQ 780 802 2.5e-2 SMART
PDB:2FXO|D 838 963 6e-53 PDB
Pfam:Myosin_tail_1 1068 1926 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226424
Predicted Effect probably benign
Transcript: ENSMUST00000227518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228715
Predicted Effect probably benign
Transcript: ENSMUST00000228837
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 94% (64/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,268,933 (GRCm39) V198A possibly damaging Het
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgra2 A T 8: 27,609,193 (GRCm39) M805L probably benign Het
Arhgap39 T C 15: 76,620,712 (GRCm39) S630G probably damaging Het
Bcl3 T A 7: 19,546,409 (GRCm39) N142I probably damaging Het
Cfap210 C T 2: 69,602,398 (GRCm39) E338K possibly damaging Het
Chuk A T 19: 44,085,431 (GRCm39) D238E probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Cyp2j8 A T 4: 96,395,427 (GRCm39) L66Q possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dst T A 1: 34,227,253 (GRCm39) D1290E probably damaging Het
Dysf T C 6: 84,075,235 (GRCm39) I583T probably benign Het
Eif1ad13 A T 12: 87,762,351 (GRCm39) R24* probably null Het
Fbxl2 T A 9: 113,815,516 (GRCm39) D249V probably damaging Het
Fbxo30 A T 10: 11,165,602 (GRCm39) Y108F possibly damaging Het
Fibin G T 2: 110,193,041 (GRCm39) H34N probably damaging Het
Gabrr1 A G 4: 33,161,632 (GRCm39) I319V probably benign Het
Gfm1 G T 3: 67,375,215 (GRCm39) L559F possibly damaging Het
Gm5134 T A 10: 75,821,859 (GRCm39) L231Q possibly damaging Het
Grm5 A G 7: 87,251,638 (GRCm39) probably benign Het
Hbs1l T A 10: 21,183,657 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Inpp4b A G 8: 82,678,813 (GRCm39) Q281R probably damaging Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Ldlrap1 C T 4: 134,486,345 (GRCm39) R38Q possibly damaging Het
Lepr A G 4: 101,671,588 (GRCm39) probably null Het
Map3k12 A G 15: 102,412,081 (GRCm39) S328P probably damaging Het
Mrpl2 T C 17: 46,958,356 (GRCm39) V46A probably benign Het
Muc16 A T 9: 18,568,294 (GRCm39) N1408K unknown Het
Nbeal2 A G 9: 110,467,802 (GRCm39) V462A probably damaging Het
Nradd G T 9: 110,450,655 (GRCm39) T174N probably damaging Het
Nup155 T C 15: 8,138,963 (GRCm39) S12P probably benign Het
Obscn C A 11: 58,943,337 (GRCm39) E4832* probably null Het
Opn3 G A 1: 175,490,669 (GRCm39) R331W probably damaging Het
Or2ag15 A T 7: 106,340,761 (GRCm39) C127S probably damaging Het
Or2w3 T A 11: 58,556,757 (GRCm39) V124E possibly damaging Het
Or4a66 G T 2: 88,531,161 (GRCm39) H171N probably benign Het
Or52ae9 T A 7: 103,389,661 (GRCm39) H262L probably damaging Het
Or5b120 G A 19: 13,480,427 (GRCm39) C240Y probably damaging Het
Or6b2 T C 1: 92,408,305 (GRCm39) I13V probably benign Het
Phip A G 9: 82,785,234 (GRCm39) V827A probably benign Het
Phldb1 G A 9: 44,607,414 (GRCm39) R1264W probably damaging Het
Pibf1 T G 14: 99,424,014 (GRCm39) I529S probably benign Het
Pkp1 T A 1: 135,814,599 (GRCm39) I241F probably benign Het
Pla2g4f G T 2: 120,132,702 (GRCm39) D711E possibly damaging Het
Pold1 A G 7: 44,190,266 (GRCm39) probably null Het
Pold2 T C 11: 5,823,691 (GRCm39) S287G probably benign Het
Prg4 T C 1: 150,331,567 (GRCm39) probably benign Het
Prl8a1 T C 13: 27,759,557 (GRCm39) E160G possibly damaging Het
Rfc4 C T 16: 22,932,840 (GRCm39) probably benign Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph14 G A 10: 74,797,520 (GRCm39) R156W probably benign Het
Sec61a1 T C 6: 88,482,150 (GRCm39) Y457C probably benign Het
Sec63 T A 10: 42,704,861 (GRCm39) probably null Het
Spen T C 4: 141,244,333 (GRCm39) E234G unknown Het
Sphkap T A 1: 83,258,200 (GRCm39) E181V probably damaging Het
Stau2 C T 1: 16,445,035 (GRCm39) A298T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbc1d23 T C 16: 56,990,796 (GRCm39) I661V probably benign Het
Thoc6 A C 17: 23,889,295 (GRCm39) probably null Het
Trpv1 T A 11: 73,141,636 (GRCm39) M553K possibly damaging Het
Ttn T C 2: 76,641,579 (GRCm39) I11760V probably benign Het
Vmn1r61 G A 7: 5,613,850 (GRCm39) H155Y probably damaging Het
Vmn2r41 A G 7: 8,153,214 (GRCm39) probably null Het
Vmn2r74 A G 7: 85,607,498 (GRCm39) I75T possibly damaging Het
Wwp2 C A 8: 108,232,977 (GRCm39) T205K probably benign Het
Zfp1003 A T 2: 177,546,195 (GRCm39) T40S probably benign Het
Zfp747 C T 7: 126,973,306 (GRCm39) G288D probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Zfp953 G A 13: 67,491,161 (GRCm39) L264F possibly damaging Het
Other mutations in Myh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Myh7 APN 14 55,224,845 (GRCm39) missense probably damaging 1.00
IGL01025:Myh7 APN 14 55,216,994 (GRCm39) missense probably damaging 1.00
IGL01092:Myh7 APN 14 55,209,089 (GRCm39) missense possibly damaging 0.91
IGL01384:Myh7 APN 14 55,208,916 (GRCm39) missense probably damaging 1.00
IGL01457:Myh7 APN 14 55,226,336 (GRCm39) missense possibly damaging 0.66
IGL01671:Myh7 APN 14 55,210,381 (GRCm39) missense probably damaging 1.00
IGL01923:Myh7 APN 14 55,222,916 (GRCm39) critical splice donor site probably null
IGL02183:Myh7 APN 14 55,212,188 (GRCm39) missense probably benign
IGL02379:Myh7 APN 14 55,216,925 (GRCm39) missense probably damaging 1.00
IGL02884:Myh7 APN 14 55,230,276 (GRCm39) missense probably benign 0.26
IGL02898:Myh7 APN 14 55,221,197 (GRCm39) missense probably damaging 1.00
IGL03027:Myh7 APN 14 55,221,007 (GRCm39) missense probably damaging 1.00
IGL03061:Myh7 APN 14 55,228,661 (GRCm39) unclassified probably benign
IGL03145:Myh7 APN 14 55,220,802 (GRCm39) missense probably damaging 1.00
IGL03250:Myh7 APN 14 55,229,704 (GRCm39) missense probably damaging 1.00
IGL03394:Myh7 APN 14 55,212,818 (GRCm39) missense probably damaging 1.00
BB008:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
BB018:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
R0019:Myh7 UTSW 14 55,221,191 (GRCm39) missense possibly damaging 0.91
R0030:Myh7 UTSW 14 55,229,427 (GRCm39) missense probably benign 0.00
R0183:Myh7 UTSW 14 55,216,333 (GRCm39) missense probably benign 0.02
R0230:Myh7 UTSW 14 55,211,390 (GRCm39) missense probably benign 0.03
R0295:Myh7 UTSW 14 55,222,278 (GRCm39) splice site probably benign
R0423:Myh7 UTSW 14 55,216,646 (GRCm39) missense probably benign 0.06
R0537:Myh7 UTSW 14 55,228,256 (GRCm39) missense possibly damaging 0.81
R0541:Myh7 UTSW 14 55,212,158 (GRCm39) missense probably benign
R0581:Myh7 UTSW 14 55,222,953 (GRCm39) missense probably benign 0.02
R0786:Myh7 UTSW 14 55,230,330 (GRCm39) start codon destroyed probably null
R0866:Myh7 UTSW 14 55,210,596 (GRCm39) missense probably benign
R1068:Myh7 UTSW 14 55,224,776 (GRCm39) missense possibly damaging 0.93
R1075:Myh7 UTSW 14 55,224,860 (GRCm39) missense probably benign
R1124:Myh7 UTSW 14 55,211,327 (GRCm39) missense possibly damaging 0.78
R1140:Myh7 UTSW 14 55,210,339 (GRCm39) missense probably damaging 1.00
R1260:Myh7 UTSW 14 55,225,908 (GRCm39) missense probably benign 0.00
R1653:Myh7 UTSW 14 55,228,246 (GRCm39) missense probably benign 0.00
R1677:Myh7 UTSW 14 55,224,973 (GRCm39) missense probably benign 0.17
R1760:Myh7 UTSW 14 55,210,170 (GRCm39) missense probably damaging 1.00
R1838:Myh7 UTSW 14 55,210,637 (GRCm39) missense possibly damaging 0.91
R1839:Myh7 UTSW 14 55,210,637 (GRCm39) missense possibly damaging 0.91
R2483:Myh7 UTSW 14 55,210,838 (GRCm39) missense probably damaging 0.99
R2566:Myh7 UTSW 14 55,220,699 (GRCm39) missense probably damaging 1.00
R3623:Myh7 UTSW 14 55,210,838 (GRCm39) missense probably damaging 0.99
R3916:Myh7 UTSW 14 55,211,503 (GRCm39) missense probably damaging 0.97
R4236:Myh7 UTSW 14 55,228,575 (GRCm39) missense probably benign 0.34
R4471:Myh7 UTSW 14 55,229,311 (GRCm39) nonsense probably null
R4700:Myh7 UTSW 14 55,225,778 (GRCm39) missense possibly damaging 0.85
R4805:Myh7 UTSW 14 55,222,590 (GRCm39) missense probably benign 0.27
R4880:Myh7 UTSW 14 55,216,045 (GRCm39) missense probably benign 0.18
R4975:Myh7 UTSW 14 55,209,128 (GRCm39) missense probably damaging 1.00
R4982:Myh7 UTSW 14 55,210,224 (GRCm39) missense probably damaging 0.98
R5004:Myh7 UTSW 14 55,209,140 (GRCm39) missense probably damaging 0.99
R5107:Myh7 UTSW 14 55,223,881 (GRCm39) intron probably benign
R5124:Myh7 UTSW 14 55,223,199 (GRCm39) nonsense probably null
R5256:Myh7 UTSW 14 55,216,965 (GRCm39) missense probably damaging 1.00
R5335:Myh7 UTSW 14 55,224,020 (GRCm39) intron probably benign
R5581:Myh7 UTSW 14 55,216,411 (GRCm39) missense probably benign 0.00
R5861:Myh7 UTSW 14 55,226,347 (GRCm39) missense possibly damaging 0.89
R5957:Myh7 UTSW 14 55,226,535 (GRCm39) missense probably damaging 1.00
R6027:Myh7 UTSW 14 55,208,259 (GRCm39) missense probably benign 0.01
R6184:Myh7 UTSW 14 55,226,315 (GRCm39) missense probably damaging 1.00
R6268:Myh7 UTSW 14 55,226,741 (GRCm39) missense probably benign 0.00
R6274:Myh7 UTSW 14 55,216,943 (GRCm39) missense probably damaging 0.97
R6345:Myh7 UTSW 14 55,221,149 (GRCm39) missense probably damaging 1.00
R6383:Myh7 UTSW 14 55,226,351 (GRCm39) missense probably benign 0.00
R6641:Myh7 UTSW 14 55,219,737 (GRCm39) missense probably benign 0.37
R6755:Myh7 UTSW 14 55,229,770 (GRCm39) missense possibly damaging 0.71
R6952:Myh7 UTSW 14 55,229,197 (GRCm39) missense probably damaging 1.00
R7025:Myh7 UTSW 14 55,212,101 (GRCm39) nonsense probably null
R7201:Myh7 UTSW 14 55,228,402 (GRCm39) missense possibly damaging 0.58
R7257:Myh7 UTSW 14 55,209,947 (GRCm39) splice site probably null
R7296:Myh7 UTSW 14 55,227,482 (GRCm39) missense probably benign 0.05
R7709:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7710:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7711:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7712:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7817:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7858:Myh7 UTSW 14 55,227,500 (GRCm39) missense probably benign 0.09
R7869:Myh7 UTSW 14 55,226,530 (GRCm39) missense probably damaging 0.99
R7870:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7887:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
R7931:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
R7936:Myh7 UTSW 14 55,216,920 (GRCm39) missense possibly damaging 0.93
R8056:Myh7 UTSW 14 55,210,776 (GRCm39) nonsense probably null
R8061:Myh7 UTSW 14 55,228,398 (GRCm39) missense probably benign
R8101:Myh7 UTSW 14 55,210,776 (GRCm39) nonsense probably null
R8202:Myh7 UTSW 14 55,227,497 (GRCm39) missense probably benign
R8504:Myh7 UTSW 14 55,227,786 (GRCm39) missense probably damaging 0.98
R8560:Myh7 UTSW 14 55,213,405 (GRCm39) missense possibly damaging 0.93
R8843:Myh7 UTSW 14 55,212,752 (GRCm39) missense probably damaging 0.98
R8903:Myh7 UTSW 14 55,230,228 (GRCm39) nonsense probably null
R8926:Myh7 UTSW 14 55,222,533 (GRCm39) missense probably benign 0.33
R8936:Myh7 UTSW 14 55,228,440 (GRCm39) missense probably benign 0.00
R9182:Myh7 UTSW 14 55,226,374 (GRCm39) missense probably damaging 1.00
R9260:Myh7 UTSW 14 55,224,842 (GRCm39) missense probably damaging 0.99
R9264:Myh7 UTSW 14 55,213,454 (GRCm39) missense probably benign 0.01
R9288:Myh7 UTSW 14 55,222,932 (GRCm39) missense probably benign 0.35
R9362:Myh7 UTSW 14 55,222,932 (GRCm39) missense probably benign 0.00
R9497:Myh7 UTSW 14 55,217,841 (GRCm39) missense probably benign 0.12
R9561:Myh7 UTSW 14 55,216,146 (GRCm39) missense probably damaging 1.00
R9663:Myh7 UTSW 14 55,221,098 (GRCm39) missense probably damaging 1.00
R9789:Myh7 UTSW 14 55,229,384 (GRCm39) missense possibly damaging 0.87
Z1192:Myh7 UTSW 14 55,220,748 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAAGCAGGTCGGCTGAGTTC -3'
(R):5'- GGGAATCTCATACTTTACAGGGG -3'

Sequencing Primer
(F):5'- TGAGTTCAGCCCCATGAGGTAG -3'
(R):5'- GGAAAACAAATTCAGGTTCTCTCTCC -3'
Posted On 2018-02-28