Incidental Mutation 'R2155:Myh6'
ID 234745
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 040158-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2155 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55191251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 863 (D863E)
Ref Sequence ENSEMBL: ENSMUSP00000154634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297]
AlphaFold Q02566
Predicted Effect probably benign
Transcript: ENSMUST00000081857
AA Change: D863E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: D863E

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 noncoding transcript
Transcript: ENSMUST00000083498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131892
Predicted Effect probably benign
Transcript: ENSMUST00000226297
AA Change: D863E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,939,260 (GRCm39) L41P probably damaging Het
Aff4 C T 11: 53,290,446 (GRCm39) L469F probably damaging Het
AI182371 G A 2: 34,975,366 (GRCm39) H288Y probably benign Het
AK157302 A T 13: 21,679,827 (GRCm39) K118* probably null Het
Arhgef2 G A 3: 88,543,351 (GRCm39) R454Q probably damaging Het
Asb17 C T 3: 153,550,322 (GRCm39) T118M probably damaging Het
Atp7b A G 8: 22,503,600 (GRCm39) V718A possibly damaging Het
Cdca2 A G 14: 67,952,287 (GRCm39) L28S probably damaging Het
Cdh20 G T 1: 109,976,594 (GRCm39) L86F probably damaging Het
Cela2a A T 4: 141,545,350 (GRCm39) probably null Het
Cers3 T A 7: 66,433,162 (GRCm39) Y160N probably damaging Het
Chmp2b A G 16: 65,343,877 (GRCm39) V56A probably benign Het
Cryl1 A G 14: 57,635,880 (GRCm39) V9A unknown Het
Dmbt1 A T 7: 130,699,305 (GRCm39) H978L possibly damaging Het
Dnm1 C T 2: 32,204,949 (GRCm39) V673M probably damaging Het
Dtx4 T A 19: 12,462,646 (GRCm39) K378* probably null Het
Extl1 A T 4: 134,090,491 (GRCm39) M328K possibly damaging Het
Fcgbp T C 7: 27,806,628 (GRCm39) S2199P probably benign Het
Glis3 G T 19: 28,508,702 (GRCm39) N427K probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hesx1 A G 14: 26,723,434 (GRCm39) E88G probably benign Het
Hmcn2 A T 2: 31,350,361 (GRCm39) Q5086L possibly damaging Het
Ier3 A G 17: 36,133,101 (GRCm39) T128A probably benign Het
Igsf10 G T 3: 59,239,101 (GRCm39) T360K probably damaging Het
Ilkap A C 1: 91,312,345 (GRCm39) C2G possibly damaging Het
Itih1 A G 14: 30,660,028 (GRCm39) F231S probably damaging Het
Jrkl A T 9: 13,244,913 (GRCm39) Y249* probably null Het
Kat6a AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 8: 23,425,663 (GRCm39) probably benign Het
Katnal2 A T 18: 77,098,637 (GRCm39) S184R probably benign Het
Kcnh5 T A 12: 74,945,230 (GRCm39) probably null Het
Kcnj11 G T 7: 45,748,781 (GRCm39) L181I probably damaging Het
Klhl2 T C 8: 65,202,804 (GRCm39) T465A probably benign Het
Krt90 T A 15: 101,471,046 (GRCm39) Y72F probably benign Het
Lig4 G A 8: 10,022,766 (GRCm39) T338I probably benign Het
Lrrc37 T C 11: 103,511,285 (GRCm39) T228A unknown Het
Magel2 T C 7: 62,030,540 (GRCm39) V1148A unknown Het
Mak C A 13: 41,186,020 (GRCm39) E549D probably benign Het
Marf1 G T 16: 13,950,293 (GRCm39) S1001Y probably damaging Het
Mcoln1 G A 8: 3,561,787 (GRCm39) V446I probably damaging Het
Meig1 T C 2: 3,410,290 (GRCm39) N70S probably benign Het
Mfsd14a G A 3: 116,441,479 (GRCm39) T108I probably damaging Het
Mocs1 G A 17: 49,761,386 (GRCm39) M493I probably damaging Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Myom2 T A 8: 15,134,555 (GRCm39) Y453N probably damaging Het
Nhlh1 A G 1: 171,881,524 (GRCm39) I114T probably damaging Het
Odr4 A G 1: 150,258,086 (GRCm39) V183A possibly damaging Het
Or12j4 A C 7: 140,046,504 (GRCm39) H130P probably benign Het
Or2y3 G T 17: 38,393,071 (GRCm39) P266Q probably damaging Het
Or4k5 A T 14: 50,386,154 (GRCm39) M59K probably damaging Het
Or5k17 G T 16: 58,746,486 (GRCm39) F149L probably benign Het
Or5p80 C G 7: 108,229,984 (GRCm39) P262A probably damaging Het
Pclo T C 5: 14,764,309 (GRCm39) S976P probably benign Het
Pde3a G A 6: 141,429,640 (GRCm39) E734K possibly damaging Het
Pdzd2 A T 15: 12,375,879 (GRCm39) S1419T probably benign Het
Pdzd8 T A 19: 59,288,853 (GRCm39) Y849F probably damaging Het
Phldb3 A G 7: 24,312,070 (GRCm39) E128G probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Ppp1r35 T C 5: 137,778,267 (GRCm39) M254T probably benign Het
Ppp3ca G T 3: 136,596,211 (GRCm39) R292M possibly damaging Het
Ptk7 T A 17: 46,890,543 (GRCm39) T430S probably benign Het
Ptrh1 T A 2: 32,667,040 (GRCm39) N144K possibly damaging Het
Rbfox1 A G 16: 7,111,946 (GRCm39) T211A possibly damaging Het
Rbpjl A G 2: 164,256,343 (GRCm39) D443G possibly damaging Het
Rcc1 A G 4: 132,065,360 (GRCm39) probably null Het
Rimbp2 G T 5: 128,865,229 (GRCm39) S706R probably damaging Het
Rsph10b G C 5: 143,898,074 (GRCm39) E96D probably benign Het
Scn10a A T 9: 119,438,514 (GRCm39) I1784K probably benign Het
Sfxn2 A G 19: 46,579,985 (GRCm39) probably null Het
Slamf6 T A 1: 171,765,575 (GRCm39) L233Q probably damaging Het
Slc17a5 A T 9: 78,484,455 (GRCm39) Y102N probably damaging Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slco1a8 T C 6: 141,926,670 (GRCm39) D552G probably damaging Het
Smg7 G A 1: 152,716,064 (GRCm39) T1057I possibly damaging Het
Speer2 T A 16: 69,657,485 (GRCm39) T53S possibly damaging Het
Srm A C 4: 148,676,948 (GRCm39) I100L probably benign Het
Stoml3 A C 3: 53,415,008 (GRCm39) N267H probably damaging Het
Thsd7a A C 6: 12,379,632 (GRCm39) C931G probably damaging Het
Tlr11 A G 14: 50,598,139 (GRCm39) I42V probably benign Het
Tmigd1 T C 11: 76,800,999 (GRCm39) V162A probably benign Het
Tmx3 A G 18: 90,528,505 (GRCm39) probably null Het
Topors T A 4: 40,262,790 (GRCm39) R165W possibly damaging Het
Ttc17 A T 2: 94,196,987 (GRCm39) S453R possibly damaging Het
Vmn1r49 G T 6: 90,049,441 (GRCm39) T187N probably damaging Het
Zbtb49 A T 5: 38,371,464 (GRCm39) V139E possibly damaging Het
Zfp11 T C 5: 129,734,216 (GRCm39) H415R probably damaging Het
Zfp677 A T 17: 21,617,970 (GRCm39) K342N probably benign Het
Zfp979 A C 4: 147,697,915 (GRCm39) C265G possibly damaging Het
Zfpl1 T C 19: 6,134,459 (GRCm39) R9G probably damaging Het
Zkscan8 A T 13: 21,704,759 (GRCm39) C321* probably null 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
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
R7743:Myh6 UTSW 14 55,194,607 (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'- ACTCTGGAGATGAGATGGGC -3'
(R):5'- TACAAACTTGCTCAGACAGAGG -3'

Sequencing Primer
(F):5'- TCTGGAGATGAGATGGGCAACAATC -3'
(R):5'- CATGCCTGAGGAGACTTCTTTCTAG -3'
Posted On 2014-10-01