Incidental Mutation 'R7711:Myh7'
ID 594637
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 045769-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R7711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 55226258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 461 (D461H)
Ref Sequence ENSEMBL: ENSMUSP00000099867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]
AlphaFold Q91Z83
Predicted Effect probably damaging
Transcript: ENSMUST00000102803
AA Change: D461H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: D461H

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 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 damaging
Transcript: ENSMUST00000168485
AA Change: D461H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: D461H

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 probably benign
Transcript: ENSMUST00000228837
Meta Mutation Damage Score 0.9474 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,886,723 (GRCm39) E342K possibly damaging Het
9430015G10Rik T G 4: 156,203,649 (GRCm39) V34G probably damaging Het
Alkbh3 T C 2: 93,838,437 (GRCm39) S44G probably benign Het
Alpk2 A T 18: 65,439,555 (GRCm39) C613S probably benign Het
Aplp2 G A 9: 31,072,645 (GRCm39) R488C probably damaging Het
Arid1b A G 17: 5,387,095 (GRCm39) N1463S probably benign Het
Atxn2l A T 7: 126,100,441 (GRCm39) L125Q probably damaging Het
Cd3d A G 9: 44,897,634 (GRCm39) K172E probably benign Het
Chd7 T A 4: 8,805,234 (GRCm39) D764E probably benign Het
Col19a1 T C 1: 24,569,089 (GRCm39) I220V unknown Het
Cpq T C 15: 33,497,493 (GRCm39) I411T probably benign Het
Crybg2 C A 4: 133,792,844 (GRCm39) H160N probably benign Het
Cryl1 A T 14: 57,513,013 (GRCm39) C285S probably benign Het
Dapk1 A G 13: 60,909,365 (GRCm39) D1326G probably damaging Het
Dgkh A G 14: 78,962,459 (GRCm39) V24A probably benign Het
Dnajb4 A C 3: 151,892,154 (GRCm39) S226R probably benign Het
Dnm3 A T 1: 161,819,622 (GRCm39) I850N possibly damaging Het
Dtna G T 18: 23,758,253 (GRCm39) probably null Het
Efcab6 G T 15: 83,834,125 (GRCm39) D494E probably benign Het
Fam169a G T 13: 97,263,196 (GRCm39) E550* probably null Het
Fbxw7 A G 3: 84,832,988 (GRCm39) N10S probably benign Het
Flrt2 T C 12: 95,747,528 (GRCm39) F622S probably damaging Het
Gprc5d G A 6: 135,093,355 (GRCm39) T184I possibly damaging Het
Grem2 A G 1: 174,664,693 (GRCm39) V52A probably damaging Het
Gtf3c2 G T 5: 31,327,533 (GRCm39) T310N probably damaging Het
H2-T13 T A 17: 36,394,770 (GRCm39) N51I probably damaging Het
Hyou1 A G 9: 44,295,759 (GRCm39) D338G possibly damaging Het
Ifna6 T C 4: 88,745,971 (GRCm39) S107P probably benign Het
Kif14 G T 1: 136,399,191 (GRCm39) G451C probably benign Het
Kit T A 5: 75,798,019 (GRCm39) F436I probably damaging Het
Lonp2 G A 8: 87,440,636 (GRCm39) C751Y probably damaging Het
Lonrf1 C A 8: 36,716,375 (GRCm39) G87C probably damaging Het
Lrp2 T C 2: 69,309,687 (GRCm39) probably null Het
Lrrc37 G T 11: 103,505,738 (GRCm39) Q2077K probably benign Het
Mkln1 A G 6: 31,469,584 (GRCm39) H598R probably damaging Het
Mmaa T C 8: 79,994,774 (GRCm39) H344R probably benign Het
Myh7b T G 2: 155,462,323 (GRCm39) L342R probably damaging Het
Or12e8 A G 2: 87,187,871 (GRCm39) N28D probably benign Het
Or2h2b-ps1 C T 17: 37,480,847 (GRCm39) G129R probably damaging Het
Or4f4-ps1 T A 2: 111,330,497 (GRCm39) I300K probably damaging Het
Or7e178 A T 9: 20,225,319 (GRCm39) V299E possibly damaging Het
Pcsk5 T A 19: 17,416,444 (GRCm39) Y1668F possibly damaging Het
Pfn4 C T 12: 4,824,414 (GRCm39) T47I possibly damaging Het
Pklr T C 3: 89,048,649 (GRCm39) L104P probably damaging Het
Plcxd2 A G 16: 45,800,693 (GRCm39) V177A probably benign Het
Pramel16 T C 4: 143,675,822 (GRCm39) S335G probably benign Het
Prdm10 G T 9: 31,268,528 (GRCm39) A826S probably damaging Het
Prrt4 A G 6: 29,177,455 (GRCm39) S105P probably benign Het
Prss51 T A 14: 64,334,937 (GRCm39) V164E probably damaging Het
Psap T C 10: 60,135,634 (GRCm39) V360A probably damaging Het
Psg22 T C 7: 18,452,267 (GRCm39) probably null Het
Qrfprl A G 6: 65,418,357 (GRCm39) H23R Het
Rad51 A G 2: 118,962,071 (GRCm39) Q206R probably benign Het
Rap1gds1 T C 3: 138,664,874 (GRCm39) K277R probably benign Het
Rassf2 T A 2: 131,847,297 (GRCm39) T103S probably benign Het
Rbm15b T A 9: 106,763,142 (GRCm39) H342L possibly damaging Het
Rsf1 G GACCGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Scaf8 T C 17: 3,237,909 (GRCm39) F561L probably damaging Het
Scn1a G A 2: 66,134,004 (GRCm39) A130V probably benign Het
Scn7a T C 2: 66,531,221 (GRCm39) E552G probably damaging Het
Slc39a14 T A 14: 70,551,124 (GRCm39) R183W probably damaging Het
Slfn1 A T 11: 83,012,089 (GRCm39) K68N possibly damaging Het
Slx4ip A G 2: 136,909,914 (GRCm39) D303G probably damaging Het
Snx17 T A 5: 31,352,804 (GRCm39) F101Y probably damaging Het
Spata31e3 T G 13: 50,401,131 (GRCm39) R398S probably benign Het
Specc1l C A 10: 75,066,642 (GRCm39) N30K probably benign Het
Spmip2 A G 3: 79,313,167 (GRCm39) I80M probably damaging Het
Tbx19 A G 1: 164,966,768 (GRCm39) S369P probably benign Het
Usp17ld T C 7: 102,899,489 (GRCm39) H481R probably damaging Het
Wnt2 A G 6: 17,990,036 (GRCm39) L287P probably benign Het
Zfhx4 G T 3: 5,462,016 (GRCm39) M1230I probably damaging Het
Zfp1 T C 8: 112,396,794 (GRCm39) C272R not run Het
Zfp458 A G 13: 67,407,664 (GRCm39) S64P 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
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
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
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'- AAGCTGTTGAACTGCAGGGG -3'
(R):5'- TCCCAGGAGCGCATATCATC -3'

Sequencing Primer
(F):5'- ACAGGCATGGCTGGTTC -3'
(R):5'- GGAGCGCATATCATCCAGATTTC -3'
Posted On 2019-11-12