Incidental Mutation 'R6755:Myh7'
ID 531034
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 044871-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R6755 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55229770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 91 (A91V)
Ref Sequence ENSEMBL: ENSMUSP00000126840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]
AlphaFold Q91Z83
Predicted Effect possibly damaging
Transcript: ENSMUST00000102803
AA Change: A91V

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: A91V

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 possibly damaging
Transcript: ENSMUST00000168485
AA Change: A91V

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: A91V

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 possibly damaging
Transcript: ENSMUST00000228837
AA Change: A91V

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228715
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,475,994 (GRCm39) T1101M probably benign Het
4930433I11Rik T C 7: 40,643,734 (GRCm39) S468P probably damaging Het
Adam33 A G 2: 130,895,069 (GRCm39) V637A probably damaging Het
Adcy5 G A 16: 35,124,004 (GRCm39) V1228M possibly damaging Het
Ahi1 G T 10: 20,893,812 (GRCm39) V848F probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
B4galt6 T C 18: 20,822,386 (GRCm39) E264G probably benign Het
Bpifb4 A G 2: 153,799,658 (GRCm39) T556A probably damaging Het
Bptf A T 11: 106,938,082 (GRCm39) S64T probably benign Het
C3ar1 A G 6: 122,826,817 (GRCm39) S467P probably benign Het
Cables1 G T 18: 12,072,882 (GRCm39) S479I probably null Het
Cbl T C 9: 44,084,671 (GRCm39) I155V probably damaging Het
Cdh16 T C 8: 105,345,880 (GRCm39) D297G probably damaging Het
Cdk8 T A 5: 146,205,126 (GRCm39) H102Q probably damaging Het
Cpn2 A T 16: 30,079,149 (GRCm39) L184Q probably damaging Het
Ctso T A 3: 81,849,609 (GRCm39) H109Q probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Drc1 A G 5: 30,512,490 (GRCm39) E299G probably damaging Het
Elp6 A G 9: 110,144,893 (GRCm39) E150G possibly damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbn2 A G 18: 58,246,405 (GRCm39) L499S possibly damaging Het
Fgf10 C A 13: 118,925,821 (GRCm39) A200D probably damaging Het
Fhad1 T C 4: 141,691,915 (GRCm39) E407G probably damaging Het
Hif1an T C 19: 44,556,891 (GRCm39) V232A probably damaging Het
Ift172 T A 5: 31,418,342 (GRCm39) K1214* probably null Het
Il20ra T C 10: 19,626,542 (GRCm39) Y189H probably benign Het
Isg20l2 T A 3: 87,838,996 (GRCm39) I69N probably benign Het
Kif11 A G 19: 37,398,199 (GRCm39) D675G probably benign Het
Klhdc7a T A 4: 139,693,786 (GRCm39) D387V possibly damaging Het
Lrrc4 T C 6: 28,831,292 (GRCm39) N108D probably damaging Het
Ltbp2 T A 12: 84,841,847 (GRCm39) E944V probably damaging Het
Magi1 C T 6: 93,685,158 (GRCm39) S740N probably damaging Het
Med26 A G 8: 73,249,677 (GRCm39) I474T probably damaging Het
Mgst1 T A 6: 138,124,770 (GRCm39) M68K probably damaging Het
Nhlrc2 G A 19: 56,580,216 (GRCm39) V450I probably benign Het
Nup160 T G 2: 90,530,800 (GRCm39) F486C probably damaging Het
Nup50l T C 6: 96,141,953 (GRCm39) T364A probably benign Het
Obscn A T 11: 58,994,152 (GRCm39) Y1602N probably damaging Het
Or52ae9 T A 7: 103,389,707 (GRCm39) T247S probably damaging Het
Or5ak4 C A 2: 85,162,142 (GRCm39) M33I probably benign Het
Otogl A T 10: 107,689,164 (GRCm39) Y955* probably null Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pianp T C 6: 124,976,347 (GRCm39) V52A probably benign Het
Plekhh2 T C 17: 84,899,013 (GRCm39) Y997H probably damaging Het
Plekhm1 G T 11: 103,278,069 (GRCm39) S342R possibly damaging Het
Poglut2 C T 1: 44,149,894 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,551,996 (GRCm39) V81E probably damaging Het
Pramel52-ps A G 5: 94,529,268 (GRCm39) T13A probably benign Het
Ptafr A G 4: 132,306,657 (GRCm39) T16A probably benign Het
Ptpn23 A T 9: 110,218,855 (GRCm39) L445Q probably damaging Het
Rasa1 A T 13: 85,374,717 (GRCm39) F751L possibly damaging Het
Sap18 A C 14: 58,039,474 (GRCm39) D153A probably damaging Het
Slc38a11 C T 2: 65,194,235 (GRCm39) G10D probably benign Het
Snx32 T C 19: 5,560,372 (GRCm39) N10D probably benign Het
Sox6 T C 7: 115,261,677 (GRCm39) T180A probably damaging Het
Srrt T C 5: 137,301,192 (GRCm39) K78R probably damaging Het
Syce3 T C 15: 89,281,567 (GRCm39) D24G probably damaging Het
Taok3 T A 5: 117,344,732 (GRCm39) I153N probably damaging Het
Tesk1 A G 4: 43,445,991 (GRCm39) Q308R probably benign Het
Tm7sf3 A T 6: 146,511,471 (GRCm39) probably null Het
Tmbim6 T C 15: 99,300,034 (GRCm39) V50A probably benign Het
Tmem107 T C 11: 68,961,837 (GRCm39) V22A probably damaging Het
Ttc12 T C 9: 49,364,646 (GRCm39) I377V probably benign Het
Ufl1 T A 4: 25,262,316 (GRCm39) N310I probably damaging Het
Ush2a C A 1: 188,175,416 (GRCm39) N1171K possibly damaging Het
Utrn A T 10: 12,574,831 (GRCm39) V1032E probably benign 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
R6232:Myh7 UTSW 14 55,226,753 (GRCm39) missense probably benign 0.00
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
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'- TACTCCTTGGACACAGAGCAG -3'
(R):5'- GGGGTCCAAACTCTCCCAAAAG -3'

Sequencing Primer
(F):5'- TTGGACACAGAGCAGGCAGG -3'
(R):5'- AACATCTAACTCCAGTCTCTCCTCAG -3'
Posted On 2018-08-01