Incidental Mutation 'R9182:Myh7'
ID 697143
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R9182 (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 C at 55226374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 422 (Y422C)
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: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: Y422C

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: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: Y422C

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: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (99/99)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,243,473 (GRCm39) M190K probably damaging Het
4931406B18Rik A G 7: 43,153,640 (GRCm39) W3R probably damaging Het
Acap3 T C 4: 155,989,892 (GRCm39) L720P probably damaging Het
Actc1 T C 2: 113,882,494 (GRCm39) T7A probably benign Het
Angpt2 T A 8: 18,760,658 (GRCm39) probably null Het
Babam2 T A 5: 32,058,401 (GRCm39) D228E possibly damaging Het
Ccar1 G A 10: 62,621,347 (GRCm39) L34F probably damaging Het
Ccdc83 T C 7: 89,886,102 (GRCm39) D219G probably damaging Het
Cct2 A G 10: 116,892,025 (GRCm39) V341A probably benign Het
Cdc20b G A 13: 113,208,503 (GRCm39) probably null Het
Chd7 T A 4: 8,838,737 (GRCm39) L1312Q probably damaging Het
Cltc G A 11: 86,595,982 (GRCm39) T1252I probably damaging Het
Cnpy1 G T 5: 28,450,799 (GRCm39) D2E possibly damaging Het
Crat C T 2: 30,298,085 (GRCm39) V205M probably damaging Het
Cspg4b A G 13: 113,457,358 (GRCm39) N1135D Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dglucy T C 12: 100,811,028 (GRCm39) V254A possibly damaging Het
Disp3 A G 4: 148,354,841 (GRCm39) S392P probably damaging Het
Dlx6 A T 6: 6,863,456 (GRCm39) Q26L probably benign Het
Dnah3 T C 7: 119,684,351 (GRCm39) D258G probably damaging Het
Dnah6 A T 6: 73,121,688 (GRCm39) Y1431* probably null Het
Dnah7b T C 1: 46,330,038 (GRCm39) I3294T probably benign Het
Dnai2 A G 11: 114,623,839 (GRCm39) N34S probably benign Het
Dock2 T C 11: 34,260,398 (GRCm39) K981R possibly damaging Het
Entpd8 T C 2: 24,971,931 (GRCm39) I33T probably benign Het
Eppk1 A G 15: 75,995,453 (GRCm39) L476P probably benign Het
Etv1 T A 12: 38,830,716 (GRCm39) probably null Het
Fads2b T C 2: 85,330,581 (GRCm39) H242R probably benign Het
Fam193a T A 5: 34,623,361 (GRCm39) N1316K possibly damaging Het
Fkbp4 T C 6: 128,415,382 (GRCm39) E31G probably benign Het
Fnbp1l C T 3: 122,363,345 (GRCm39) D81N probably damaging Het
Fstl4 T C 11: 53,024,905 (GRCm39) V259A probably damaging Het
Glipr1l1 T C 10: 111,912,056 (GRCm39) S197P probably damaging Het
Gprin3 A T 6: 59,331,197 (GRCm39) M370K probably benign Het
Gsc G T 12: 104,439,120 (GRCm39) Y85* probably null Het
Gys2 T G 6: 142,391,735 (GRCm39) Y509S probably damaging Het
Gys2 T C 6: 142,406,978 (GRCm39) N126S possibly damaging Het
Hmcn1 A T 1: 150,488,405 (GRCm39) W4292R probably damaging Het
Hmcn1 C A 1: 150,500,337 (GRCm39) E3952* probably null Het
Hsd3b9 C T 3: 98,354,005 (GRCm39) A165T possibly damaging Het
Htr1f T C 16: 64,746,825 (GRCm39) M156V probably benign Het
Il21r G A 7: 125,228,213 (GRCm39) G228E probably benign Het
Kat6b C T 14: 21,567,187 (GRCm39) S82L probably benign Het
Kntc1 T A 5: 123,940,355 (GRCm39) L1651Q probably damaging Het
Lipi G T 16: 75,357,673 (GRCm39) Y297* probably null Het
Mapre3 T C 5: 31,022,016 (GRCm39) S190P possibly damaging Het
Mmp8 T A 9: 7,567,467 (GRCm39) Y442* probably null Het
Mmut A G 17: 41,252,310 (GRCm39) E284G probably damaging Het
Mt3 G A 8: 94,880,615 (GRCm39) E62K unknown Het
Myh13 A G 11: 67,228,579 (GRCm39) E373G probably damaging Het
Nalcn A G 14: 123,834,016 (GRCm39) V53A probably damaging Het
Nucb2 A G 7: 116,121,070 (GRCm39) probably null Het
Opn5 A T 17: 42,903,890 (GRCm39) H148Q probably damaging Het
Or13a23-ps1 A T 7: 140,118,782 (GRCm39) L117F probably benign Het
Or51h1 A T 7: 102,308,927 (GRCm39) I300L probably damaging Het
Or51v14 T C 7: 103,261,063 (GRCm39) K166E possibly damaging Het
Or6b1 A T 6: 42,815,010 (GRCm39) N65I probably benign Het
Or7g16 G T 9: 18,726,742 (GRCm39) Q283K probably damaging Het
Or8b56 C A 9: 38,739,172 (GRCm39) H56N probably damaging Het
Osmr T A 15: 6,850,569 (GRCm39) D679V probably damaging Het
Pde4dip T C 3: 97,602,314 (GRCm39) D2305G probably benign Het
Pdgfrl A T 8: 41,429,996 (GRCm39) Q121L probably damaging Het
Pls1 C A 9: 95,658,811 (GRCm39) V226F probably damaging Het
Plxnd1 T A 6: 115,970,746 (GRCm39) I341F probably damaging Het
Ppfia2 T A 10: 106,763,640 (GRCm39) M1211K probably benign Het
Ppfibp2 T A 7: 107,308,053 (GRCm39) Y229N possibly damaging Het
Prss53 A G 7: 127,487,554 (GRCm39) S266P probably benign Het
Pycr2 C T 1: 180,734,397 (GRCm39) Q226* probably null Het
Rad50 T C 11: 53,583,590 (GRCm39) H397R probably benign Het
Raf1 T C 6: 115,600,440 (GRCm39) E393G probably damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Robo4 A T 9: 37,313,206 (GRCm39) probably benign Het
Sbf1 A T 15: 89,173,806 (GRCm39) probably null Het
Serpinb6a T C 13: 34,109,360 (GRCm39) D145G probably damaging Het
Setx T A 2: 29,061,299 (GRCm39) M2236K probably damaging Het
Sgms1 A G 19: 32,101,758 (GRCm39) V416A probably benign Het
Six5 T G 7: 18,830,932 (GRCm39) S520A probably benign Het
Sox5 T A 6: 143,779,118 (GRCm39) I722F possibly damaging Het
Spag17 T G 3: 99,966,158 (GRCm39) I1147S possibly damaging Het
Spice1 C T 16: 44,206,065 (GRCm39) T842I possibly damaging Het
Ssbp2 A G 13: 91,848,800 (GRCm39) T358A probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tbc1d2b C A 9: 90,152,652 (GRCm39) C38F probably damaging Het
Tecrl C A 5: 83,457,049 (GRCm39) probably null Het
Tgm7 T C 2: 120,926,980 (GRCm39) N390D probably benign Het
Thsd4 T G 9: 59,894,649 (GRCm39) M770L probably benign Het
Tmod2 C A 9: 75,504,624 (GRCm39) probably benign Het
Tnks A G 8: 35,308,905 (GRCm39) probably null Het
Tox3 T C 8: 90,984,507 (GRCm39) N224S probably benign Het
Trappc10 C T 10: 78,050,464 (GRCm39) E326K probably damaging Het
Usp16 T A 16: 87,276,542 (GRCm39) F627I probably benign Het
Vcam1 T C 3: 115,911,004 (GRCm39) I465V probably benign Het
Vmn1r128 T C 7: 21,083,683 (GRCm39) I129T possibly damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r2 A T 3: 64,044,802 (GRCm39) C115S probably damaging Het
Vmn2r85 A C 10: 130,265,350 (GRCm39) S44R probably benign Het
Wasf3 T A 5: 146,403,635 (GRCm39) Y248* probably null Het
Yipf5 A T 18: 40,343,851 (GRCm39) L127M probably damaging Het
Zbp1 G T 2: 173,050,933 (GRCm39) C312* probably null Het
Zfp423 A T 8: 88,508,742 (GRCm39) F534Y probably damaging Het
Zfp69 T G 4: 120,792,308 (GRCm39) Y156S probably damaging Het
Zmat4 A G 8: 24,419,226 (GRCm39) N155S probably 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
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
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'- ATGAGGAACACGTGGTGTCC -3'
(R):5'- GAACTCAGCCGACCTGCTTAAG -3'

Sequencing Primer
(F):5'- AACACGTGGTGTCCCAGGC -3'
(R):5'- CTGTGCCATCCTAGAGTCAAAGTG -3'
Posted On 2022-02-07