Incidental Mutation 'R5107:Myh7'
ID 393622
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 042695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R5107 (G1)
Quality Score 189
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 55223881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000168485]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000102803
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093

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: ENSMUST00000168485
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093

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 noncoding transcript
Transcript: ENSMUST00000228715
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Atp6v1f T A 6: 29,468,198 (GRCm39) probably null Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Igkv4-54 T C 6: 69,608,914 (GRCm39) I24V possibly damaging Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myod1 G T 7: 46,027,218 (GRCm39) A228S probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Rhou A T 8: 124,387,912 (GRCm39) K215* probably null Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Selenop A G 15: 3,305,075 (GRCm39) E77G probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tex47 C T 5: 7,354,842 (GRCm39) R8W probably benign Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A 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
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
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'- GGTGATTCCCATAGAAGTGCC -3'
(R):5'- GGCCTCTAATCTTGCGTCTG -3'

Sequencing Primer
(F):5'- AGTGCCTTACATATTACTCTGAGGTG -3'
(R):5'- AATCTTGCGTCTGCCTCAC -3'
Posted On 2016-06-15