Incidental Mutation 'R8504:Myh7'
ID 655490
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 067840-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R8504 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55227786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 291 (S291P)
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: S291P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: S291P

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: S291P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: S291P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,922,983 (GRCm39) S1181P probably benign Het
Acvr1c C T 2: 58,173,491 (GRCm39) C337Y probably damaging Het
Adgrf5 A G 17: 43,757,840 (GRCm39) E758G probably benign Het
Akap3 T A 6: 126,841,493 (GRCm39) D37E probably damaging Het
Ano5 A T 7: 51,222,776 (GRCm39) H445L probably benign Het
Ap4b1 T A 3: 103,720,116 (GRCm39) I121N probably damaging Het
Arhgdia T C 11: 120,470,354 (GRCm39) K135E probably benign Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atp8a2 A C 14: 59,885,366 (GRCm39) Y1119* probably null Het
Birc6 T A 17: 74,959,000 (GRCm39) M3839K probably damaging Het
Cacna1a A G 8: 85,365,370 (GRCm39) H2171R probably benign Het
Ccdc90b T A 7: 92,224,545 (GRCm39) D183E probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdh23 T A 10: 60,274,618 (GRCm39) T491S probably benign Het
Cercam T C 2: 29,771,829 (GRCm39) S550P possibly damaging Het
Chd9 A G 8: 91,723,472 (GRCm39) H1019R unknown Het
Coil A T 11: 88,871,980 (GRCm39) K114* probably null Het
Csmd2 A C 4: 128,440,483 (GRCm39) T3183P Het
Cul9 T C 17: 46,814,506 (GRCm39) Y2219C probably damaging Het
Efhd2 G A 4: 141,587,186 (GRCm39) Q199* probably null Het
Elp3 A T 14: 65,785,360 (GRCm39) S499R probably benign Het
Exoc8 T G 8: 125,622,709 (GRCm39) I553L probably benign Het
Fyco1 C A 9: 123,659,142 (GRCm39) V345L probably benign Het
Galr3 T A 15: 78,927,279 (GRCm39) V240E probably damaging Het
Gm21190 A G 5: 15,730,862 (GRCm39) S165P probably benign Het
Gnal T A 18: 67,350,255 (GRCm39) Y372* probably null Het
H2-DMa A G 17: 34,357,416 (GRCm39) N230D probably damaging Het
Hk2 T C 6: 82,721,847 (GRCm39) D164G possibly damaging Het
Ighv3-4 T A 12: 114,217,544 (GRCm39) I16F possibly damaging Het
Ivl T C 3: 92,480,078 (GRCm39) probably benign Het
Klhl8 G A 5: 104,015,814 (GRCm39) T434M probably benign Het
Lct A T 1: 128,215,306 (GRCm39) S1757T probably damaging Het
Lmbr1l T A 15: 98,810,065 (GRCm39) Y132F probably damaging Het
M6pr T C 6: 122,293,029 (GRCm39) V203A possibly damaging Het
Map9 T C 3: 82,284,476 (GRCm39) probably null Het
Muc5ac A T 7: 141,360,892 (GRCm39) D1401V probably damaging Het
Nynrin G C 14: 56,107,703 (GRCm39) V937L probably benign Het
Or5d44 C T 2: 88,141,825 (GRCm39) G105D probably benign Het
Or5m3 T G 2: 85,838,149 (GRCm39) F10V probably damaging Het
Pank2 A G 2: 131,135,320 (GRCm39) N386S probably benign Het
Phkg2 G T 7: 127,181,528 (GRCm39) R237L possibly damaging Het
Pkhd1 C T 1: 20,590,432 (GRCm39) V1772I probably benign Het
Plch2 G T 4: 155,068,852 (GRCm39) P1258Q probably benign Het
Plekhm2 A T 4: 141,369,764 (GRCm39) I77N probably damaging Het
Ptprb A G 10: 116,176,936 (GRCm39) T954A probably benign Het
Ranbp3 T C 17: 57,015,273 (GRCm39) V325A probably damaging Het
Rgs10 A T 7: 128,019,793 (GRCm39) S16T probably benign Het
Scaper A T 9: 55,771,722 (GRCm39) V398E probably benign Het
Selenot A G 3: 58,492,698 (GRCm39) I62V probably benign Het
Serpinb9e T A 13: 33,439,092 (GRCm39) C173S probably benign Het
Slc13a3 G T 2: 165,275,999 (GRCm39) T249K probably damaging Het
Slc4a8 T A 15: 100,701,171 (GRCm39) V741D possibly damaging Het
Slco4a1 T C 2: 180,106,592 (GRCm39) V258A probably damaging Het
Sycp2l T G 13: 41,291,390 (GRCm39) L256R probably damaging Het
Tektl1 T C 10: 78,585,038 (GRCm39) D266G probably benign Het
Tektl1 T C 10: 78,586,463 (GRCm39) D196G probably damaging Het
Top2a C T 11: 98,905,567 (GRCm39) V337I probably benign Het
Tut4 T C 4: 108,388,139 (GRCm39) L1160P probably damaging Het
Unc13a A C 8: 72,098,405 (GRCm39) F1127V possibly damaging Het
Wdr25 C T 12: 108,992,393 (GRCm39) Q435* probably null Het
Zc3h7b T G 15: 81,664,719 (GRCm39) L526R probably damaging Het
Zeb1 C A 18: 5,705,127 (GRCm39) T48K possibly damaging Het
Zfhx2 A C 14: 55,303,243 (GRCm39) S1580R probably benign Het
Zfhx3 A G 8: 109,583,549 (GRCm39) I1139V possibly damaging Het
Zfp536 C A 7: 37,179,492 (GRCm39) V1038L probably benign Het
Zfp759 T A 13: 67,286,947 (GRCm39) V166E probably benign Het
Zfp985 A T 4: 147,667,883 (GRCm39) K250N 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
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
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'- CTGGCTATAGCAAACAGGCC -3'
(R):5'- GTCTGCTCTCAGTGCATGTC -3'

Sequencing Primer
(F):5'- TGGCTATAGCAAACAGGCCAAGAG -3'
(R):5'- ATGTGTGACCTCTGTATCCATACAC -3'
Posted On 2020-10-20