Incidental Mutation 'R7743:Myh6'
ID 596693
Institutional Source Beutler Lab
Gene Symbol Myh6
Ensembl Gene ENSMUSG00000040752
Gene Name myosin, heavy polypeptide 6, cardiac muscle, alpha
Synonyms cardiomyopathy, hypertrophic 1, Myhca, Myhc-a, alphaMHC, alpha myosin, alpha cardiac MHC, A830009F23Rik, alpha-MHC
MMRRC Submission 045799-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7743 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55194607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 721 (R721W)
Ref Sequence ENSEMBL: ENSMUSP00000080538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297]
AlphaFold Q02566
Predicted Effect probably damaging
Transcript: ENSMUST00000081857
AA Change: R721W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: R721W

DomainStartEndE-ValueType
Pfam:Myosin_N 34 73 1.9e-15 PFAM
MYSc 79 781 N/A SMART
IQ 782 804 1.15e-1 SMART
IQ 808 830 3.32e2 SMART
Pfam:Myosin_tail_1 845 1926 2.1e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226297
AA Change: R721W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,516 (GRCm39) E1235G probably damaging Het
Abtb3 A T 10: 85,460,813 (GRCm39) I569F possibly damaging Het
Adam6a A G 12: 113,508,152 (GRCm39) D175G probably benign Het
Adgrf4 A T 17: 42,983,453 (GRCm39) C76* probably null Het
Agbl3 C T 6: 34,823,765 (GRCm39) T815I probably damaging Het
Ahnak2 A G 12: 112,748,383 (GRCm39) V488A not run Het
Akip1 T A 7: 109,311,035 (GRCm39) S192T probably benign Het
Apc2 G A 10: 80,140,749 (GRCm39) M201I probably damaging Het
Arel1 G T 12: 84,987,043 (GRCm39) N124K probably damaging Het
Atp10a A T 7: 58,453,457 (GRCm39) H845L probably damaging Het
Atp2a2 A G 5: 122,599,634 (GRCm39) Y586H probably benign Het
BC051019 A G 7: 109,315,266 (GRCm39) Y330H probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chek2 T G 5: 110,987,916 (GRCm39) probably null Het
Cldn14 A G 16: 93,716,615 (GRCm39) L77S probably damaging Het
Cox15 T C 19: 43,728,380 (GRCm39) K298E possibly damaging Het
Cpt1b G T 15: 89,305,607 (GRCm39) D369E probably benign Het
Cpxm1 T C 2: 130,235,342 (GRCm39) N550S probably benign Het
Csdc2 A G 15: 81,833,399 (GRCm39) E132G possibly damaging Het
Cyb5d2 A T 11: 72,669,702 (GRCm39) C219S probably damaging Het
Erbb4 T C 1: 68,367,278 (GRCm39) T480A probably benign Het
Fndc1 G A 17: 7,983,969 (GRCm39) T1319I unknown Het
Gm5773 T G 3: 93,680,565 (GRCm39) V79G probably damaging Het
Hsf2 G A 10: 57,387,431 (GRCm39) probably null Het
Itgb2l T C 16: 96,238,608 (GRCm39) T64A probably damaging Het
Kifc5b T C 17: 27,143,176 (GRCm39) V316A probably damaging Het
Ktn1 A G 14: 47,907,750 (GRCm39) D279G probably damaging Het
Lonrf1 T C 8: 36,716,206 (GRCm39) E143G possibly damaging Het
Mroh9 C T 1: 162,852,122 (GRCm39) E856K probably benign Het
Muc16 T C 9: 18,568,773 (GRCm39) T1249A unknown Het
Myo6 A T 9: 80,183,611 (GRCm39) I669F unknown Het
N4bp2 A G 5: 65,965,802 (GRCm39) T1284A probably damaging Het
Npr3 A G 15: 11,905,724 (GRCm39) M1T probably null Het
Obscn C T 11: 58,990,603 (GRCm39) V1657M probably damaging Het
Olfr908 A G 9: 38,427,624 (GRCm39) T99A possibly damaging Het
Or52a20 A G 7: 103,366,560 (GRCm39) E253G possibly damaging Het
Or52p2 A T 7: 102,237,638 (GRCm39) F104Y probably benign Het
Otud6b C A 4: 14,818,389 (GRCm39) A171S possibly damaging Het
Pdcd2l A C 7: 33,892,256 (GRCm39) D204E probably benign Het
Pdia2 T C 17: 26,417,842 (GRCm39) S56G probably benign Het
Plcxd1 G A 5: 110,250,369 (GRCm39) E237K possibly damaging Het
Plekha5 A T 6: 140,501,712 (GRCm39) R633S probably damaging Het
Pnpla6 T C 8: 3,586,594 (GRCm39) F937L possibly damaging Het
Pth2 A T 7: 44,830,733 (GRCm39) M6L probably benign Het
Ptprd T A 4: 76,004,326 (GRCm39) K143I probably damaging Het
Rhbdf2 T C 11: 116,492,427 (GRCm39) D487G probably benign Het
Rhbdf2 A T 11: 116,494,775 (GRCm39) D300E probably benign Het
Rock2 G A 12: 17,026,048 (GRCm39) V1265I probably damaging Het
Rsf1 CGGC CGGCGGCGGAGGC 7: 97,229,139 (GRCm39) probably benign Het
Rtn4 T A 11: 29,683,790 (GRCm39) Y1027* probably null Het
Rxfp3 A G 15: 11,037,216 (GRCm39) L52P probably damaging Het
Sel1l3 A G 5: 53,293,227 (GRCm39) Y830H probably benign Het
Serpinb3d C T 1: 107,007,088 (GRCm39) V207I probably damaging Het
Sipa1l2 T C 8: 126,190,972 (GRCm39) E1006G probably damaging Het
Slc22a19 C T 19: 7,661,201 (GRCm39) M324I possibly damaging Het
Slc37a1 T A 17: 31,535,159 (GRCm39) F106I probably damaging Het
Snx14 A T 9: 88,280,402 (GRCm39) S518T probably benign Het
Sp2 T C 11: 96,851,935 (GRCm39) T330A probably damaging Het
Spata13 A T 14: 60,993,698 (GRCm39) H1050L probably damaging Het
Sptssa A C 12: 54,703,201 (GRCm39) V23G possibly damaging Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tars1 A C 15: 11,399,458 (GRCm39) probably null Het
Tead3 T A 17: 28,551,801 (GRCm39) T431S probably benign Het
Tiam2 G A 17: 3,568,431 (GRCm39) E1526K possibly damaging Het
Tnni3 G A 7: 4,524,891 (GRCm39) P12L probably benign Het
Topaz1 A G 9: 122,614,201 (GRCm39) H1207R probably benign Het
Trdn G T 10: 33,133,058 (GRCm39) E107* probably null Het
Trp63 A G 16: 25,701,375 (GRCm39) N483S probably benign Het
Trpm4 A G 7: 44,957,762 (GRCm39) S1009P probably benign Het
Trpm6 T C 19: 18,804,772 (GRCm39) V908A probably benign Het
Tsen34 A T 7: 3,697,601 (GRCm39) M25L possibly damaging Het
Ttn T C 2: 76,781,827 (GRCm39) E1073G unknown Het
Uaca A T 9: 60,783,677 (GRCm39) I1380F probably damaging Het
Ubr3 A G 2: 69,774,793 (GRCm39) T539A probably benign Het
Ugt1a5 T A 1: 88,094,117 (GRCm39) M115K probably benign Het
Unc45b A T 11: 82,813,726 (GRCm39) I378F probably damaging Het
Unk G A 11: 115,940,262 (GRCm39) R205Q possibly damaging Het
Ush2a T A 1: 188,542,376 (GRCm39) L3314Q probably benign Het
Vezt A G 10: 93,816,286 (GRCm39) L475P probably damaging Het
Vmn2r115 C T 17: 23,564,772 (GRCm39) Q220* probably null Het
Yap1 T C 9: 7,962,379 (GRCm39) Q223R probably benign Het
Zdhhc7 G A 8: 120,813,467 (GRCm39) T114M possibly damaging Het
Zwilch A C 9: 64,060,217 (GRCm39) C374G probably damaging Het
Other mutations in Myh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Myh6 APN 14 55,184,450 (GRCm39) missense probably benign 0.13
IGL00401:Myh6 APN 14 55,190,874 (GRCm39) missense probably benign 0.00
IGL01062:Myh6 APN 14 55,189,749 (GRCm39) missense probably damaging 0.99
IGL01300:Myh6 APN 14 55,200,548 (GRCm39) missense possibly damaging 0.94
IGL01688:Myh6 APN 14 55,201,417 (GRCm39) missense possibly damaging 0.74
IGL01695:Myh6 APN 14 55,194,870 (GRCm39) missense probably benign 0.01
IGL01762:Myh6 APN 14 55,199,538 (GRCm39) missense probably benign 0.17
IGL01803:Myh6 APN 14 55,182,000 (GRCm39) missense probably damaging 1.00
IGL02079:Myh6 APN 14 55,187,998 (GRCm39) missense probably damaging 1.00
IGL02315:Myh6 APN 14 55,191,291 (GRCm39) missense probably damaging 1.00
IGL02340:Myh6 APN 14 55,194,612 (GRCm39) missense possibly damaging 0.76
IGL02377:Myh6 APN 14 55,181,775 (GRCm39) missense probably benign 0.10
IGL02715:Myh6 APN 14 55,184,365 (GRCm39) unclassified probably benign
IGL02742:Myh6 APN 14 55,191,381 (GRCm39) missense possibly damaging 0.62
P0028:Myh6 UTSW 14 55,201,094 (GRCm39) missense probably benign
PIT4520001:Myh6 UTSW 14 55,187,581 (GRCm39) missense probably benign 0.00
R0058:Myh6 UTSW 14 55,200,861 (GRCm39) missense probably damaging 1.00
R0090:Myh6 UTSW 14 55,196,161 (GRCm39) missense probably damaging 0.97
R0360:Myh6 UTSW 14 55,185,804 (GRCm39) nonsense probably null
R0364:Myh6 UTSW 14 55,185,804 (GRCm39) nonsense probably null
R0395:Myh6 UTSW 14 55,183,777 (GRCm39) missense possibly damaging 0.94
R0549:Myh6 UTSW 14 55,196,065 (GRCm39) missense probably damaging 1.00
R0559:Myh6 UTSW 14 55,196,011 (GRCm39) missense probably benign
R0800:Myh6 UTSW 14 55,190,735 (GRCm39) splice site probably benign
R0892:Myh6 UTSW 14 55,184,511 (GRCm39) missense probably benign 0.17
R0975:Myh6 UTSW 14 55,190,826 (GRCm39) missense probably damaging 1.00
R1051:Myh6 UTSW 14 55,186,984 (GRCm39) missense probably benign 0.12
R1180:Myh6 UTSW 14 55,181,925 (GRCm39) missense possibly damaging 0.93
R1311:Myh6 UTSW 14 55,183,822 (GRCm39) missense probably damaging 0.96
R1490:Myh6 UTSW 14 55,200,175 (GRCm39) nonsense probably null
R1531:Myh6 UTSW 14 55,193,963 (GRCm39) missense probably damaging 1.00
R1835:Myh6 UTSW 14 55,194,858 (GRCm39) missense probably benign 0.03
R1845:Myh6 UTSW 14 55,182,131 (GRCm39) missense probably damaging 1.00
R2033:Myh6 UTSW 14 55,201,102 (GRCm39) missense probably benign 0.00
R2143:Myh6 UTSW 14 55,190,411 (GRCm39) missense probably damaging 1.00
R2146:Myh6 UTSW 14 55,191,228 (GRCm39) missense probably damaging 1.00
R2155:Myh6 UTSW 14 55,191,251 (GRCm39) missense probably benign
R2484:Myh6 UTSW 14 55,198,699 (GRCm39) nonsense probably null
R3155:Myh6 UTSW 14 55,182,125 (GRCm39) missense probably damaging 0.97
R3156:Myh6 UTSW 14 55,182,125 (GRCm39) missense probably damaging 0.97
R3780:Myh6 UTSW 14 55,201,415 (GRCm39) missense probably benign 0.00
R3906:Myh6 UTSW 14 55,194,412 (GRCm39) missense probably benign 0.04
R3937:Myh6 UTSW 14 55,200,512 (GRCm39) missense probably benign 0.00
R3938:Myh6 UTSW 14 55,200,512 (GRCm39) missense probably benign 0.00
R4236:Myh6 UTSW 14 55,197,819 (GRCm39) missense probably benign 0.15
R4373:Myh6 UTSW 14 55,199,565 (GRCm39) missense probably damaging 0.97
R4374:Myh6 UTSW 14 55,199,565 (GRCm39) missense probably damaging 0.97
R4377:Myh6 UTSW 14 55,199,565 (GRCm39) missense probably damaging 0.97
R4798:Myh6 UTSW 14 55,190,750 (GRCm39) missense probably damaging 1.00
R4844:Myh6 UTSW 14 55,184,651 (GRCm39) missense possibly damaging 0.89
R4908:Myh6 UTSW 14 55,194,419 (GRCm39) missense probably damaging 1.00
R5256:Myh6 UTSW 14 55,190,118 (GRCm39) missense probably damaging 1.00
R5277:Myh6 UTSW 14 55,194,019 (GRCm39) missense probably benign 0.01
R5356:Myh6 UTSW 14 55,191,219 (GRCm39) missense probably damaging 1.00
R5433:Myh6 UTSW 14 55,191,381 (GRCm39) missense probably benign 0.32
R5616:Myh6 UTSW 14 55,194,038 (GRCm39) missense probably benign 0.17
R5784:Myh6 UTSW 14 55,190,521 (GRCm39) missense possibly damaging 0.93
R5820:Myh6 UTSW 14 55,196,137 (GRCm39) missense probably damaging 0.99
R5835:Myh6 UTSW 14 55,187,864 (GRCm39) missense probably damaging 1.00
R5922:Myh6 UTSW 14 55,183,931 (GRCm39) missense probably damaging 0.99
R5975:Myh6 UTSW 14 55,187,965 (GRCm39) missense probably benign 0.31
R5988:Myh6 UTSW 14 55,202,851 (GRCm39) missense probably damaging 1.00
R6630:Myh6 UTSW 14 55,179,458 (GRCm39) missense probably benign 0.01
R6845:Myh6 UTSW 14 55,182,206 (GRCm39) missense probably benign
R7009:Myh6 UTSW 14 55,189,749 (GRCm39) missense probably damaging 0.99
R7154:Myh6 UTSW 14 55,197,764 (GRCm39) missense probably benign 0.43
R7293:Myh6 UTSW 14 55,184,631 (GRCm39) missense probably benign 0.00
R7313:Myh6 UTSW 14 55,197,727 (GRCm39) missense probably benign 0.00
R7339:Myh6 UTSW 14 55,199,025 (GRCm39) splice site probably null
R7348:Myh6 UTSW 14 55,189,716 (GRCm39) missense probably damaging 1.00
R7487:Myh6 UTSW 14 55,190,953 (GRCm39) nonsense probably null
R7680:Myh6 UTSW 14 55,186,190 (GRCm39) missense possibly damaging 0.88
R7726:Myh6 UTSW 14 55,202,822 (GRCm39) missense probably damaging 0.99
R7807:Myh6 UTSW 14 55,179,897 (GRCm39) missense probably damaging 1.00
R7851:Myh6 UTSW 14 55,190,508 (GRCm39) missense possibly damaging 0.94
R8145:Myh6 UTSW 14 55,191,382 (GRCm39) missense probably benign 0.45
R8344:Myh6 UTSW 14 55,190,891 (GRCm39) missense probably damaging 0.99
R8407:Myh6 UTSW 14 55,201,388 (GRCm39) missense probably benign 0.13
R8415:Myh6 UTSW 14 55,181,835 (GRCm39) missense probably damaging 0.98
R8782:Myh6 UTSW 14 55,187,357 (GRCm39) missense possibly damaging 0.76
R9034:Myh6 UTSW 14 55,185,596 (GRCm39) missense possibly damaging 0.47
R9354:Myh6 UTSW 14 55,200,992 (GRCm39) missense probably damaging 0.99
R9441:Myh6 UTSW 14 55,197,771 (GRCm39) missense probably benign 0.02
R9449:Myh6 UTSW 14 55,189,779 (GRCm39) missense possibly damaging 0.50
R9485:Myh6 UTSW 14 55,181,802 (GRCm39) missense probably benign 0.01
R9612:Myh6 UTSW 14 55,201,054 (GRCm39) missense probably benign 0.09
R9738:Myh6 UTSW 14 55,189,759 (GRCm39) missense probably benign 0.03
R9742:Myh6 UTSW 14 55,194,056 (GRCm39) missense probably benign
R9749:Myh6 UTSW 14 55,190,943 (GRCm39) missense probably damaging 0.99
Z1088:Myh6 UTSW 14 55,194,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAATGAATTGCCCCTCAGG -3'
(R):5'- TCATTCCCAACGAGCGAAAG -3'

Sequencing Primer
(F):5'- CTCAGGGATGGCTGCTGG -3'
(R):5'- GCCACAGGGAAGGTTTTAGTC -3'
Posted On 2019-11-26