Incidental Mutation 'R1531:Myh6'
ID 166243
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 039570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1531 (G1)
Quality Score 168
Status Not validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55193963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 809 (R809C)
Ref Sequence ENSEMBL: ENSMUSP00000154634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297]
AlphaFold Q02566
Predicted Effect probably damaging
Transcript: ENSMUST00000081857
AA Change: R809C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: R809C

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: ENSMUST00000131892
Predicted Effect probably damaging
Transcript: ENSMUST00000226297
AA Change: R809C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T A 13: 59,648,448 (GRCm39) probably null Het
Aldh3b2 T G 19: 4,027,543 (GRCm39) F28C probably damaging Het
Apaf1 T C 10: 90,890,383 (GRCm39) N540S probably damaging Het
Apob T C 12: 8,047,880 (GRCm39) I953T possibly damaging Het
Arhgef1 A G 7: 24,624,423 (GRCm39) T816A probably damaging Het
Arid4a T A 12: 71,122,779 (GRCm39) F1053L probably benign Het
Atxn1l A C 8: 110,458,691 (GRCm39) F524V probably damaging Het
Cad T A 5: 31,233,563 (GRCm39) M1874K probably benign Het
Ccdc40 G A 11: 119,154,015 (GRCm39) V1096I probably benign Het
Ccdc93 A G 1: 121,408,551 (GRCm39) D358G probably benign Het
Cd96 T C 16: 45,938,169 (GRCm39) T99A probably benign Het
Cdc42ep3 A T 17: 79,642,473 (GRCm39) M149K probably benign Het
Cgas A G 9: 78,349,763 (GRCm39) Y200H probably damaging Het
Cog4 A G 8: 111,606,353 (GRCm39) E613G probably benign Het
Crebbp A T 16: 3,902,381 (GRCm39) I2286N probably benign Het
Csf1 T C 3: 107,655,654 (GRCm39) E459G possibly damaging Het
Csrp2 A T 10: 110,771,066 (GRCm39) Y57F probably benign Het
Ctdspl C T 9: 118,869,650 (GRCm39) P244L probably damaging Het
Cyp2c29 A G 19: 39,313,412 (GRCm39) R303G probably damaging Het
Cyp4a10 C A 4: 115,375,632 (GRCm39) Y38* probably null Het
Dmgdh T A 13: 93,880,919 (GRCm39) I783N probably damaging Het
Efcc1 G A 6: 87,708,148 (GRCm39) E92K probably benign Het
Eif2ak4 T A 2: 118,273,691 (GRCm39) L872H probably damaging Het
Elp2 T A 18: 24,764,461 (GRCm39) S603T probably benign Het
Eml2 T A 7: 18,930,179 (GRCm39) L300H probably damaging Het
Esp3 A G 17: 40,946,827 (GRCm39) K50R possibly damaging Het
Esrp1 A G 4: 11,379,375 (GRCm39) F136L probably damaging Het
Exoc1 T A 5: 76,707,011 (GRCm39) D497E probably damaging Het
Fat3 A G 9: 15,908,761 (GRCm39) S2414P probably damaging Het
Foxj3 C T 4: 119,477,398 (GRCm39) P369S unknown Het
Gkn2 G T 6: 87,352,921 (GRCm39) probably null Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gm21905 A T 5: 68,103,724 (GRCm39) probably benign Het
Grhl1 T A 12: 24,632,962 (GRCm39) probably null Het
Grk6 A G 13: 55,599,967 (GRCm39) Y221C probably damaging Het
Hcrtr1 T A 4: 130,024,720 (GRCm39) K389* probably null Het
Hk1 G A 10: 62,120,563 (GRCm39) R545C probably damaging Het
Hsp90b1 A T 10: 86,532,659 (GRCm39) I339N probably benign Het
Ikzf3 T C 11: 98,381,272 (GRCm39) R103G probably damaging Het
Itgad A C 7: 127,777,542 (GRCm39) I141L probably benign Het
Jmjd6 T A 11: 116,733,266 (GRCm39) Y137F probably benign Het
Kcna1 A G 6: 126,619,030 (GRCm39) V430A probably benign Het
Kel A G 6: 41,665,560 (GRCm39) V520A probably damaging Het
Klhl41 G A 2: 69,501,084 (GRCm39) V182I probably benign Het
Ldhb C A 6: 142,447,121 (GRCm39) M64I probably benign Het
Lrrc23 A G 6: 124,753,077 (GRCm39) S190P possibly damaging Het
Mboat2 T C 12: 25,009,029 (GRCm39) V445A probably benign Het
Mlycd G A 8: 120,128,258 (GRCm39) W188* probably null Het
Mpp3 C T 11: 101,899,475 (GRCm39) E349K probably benign Het
Mtres1 A G 10: 43,401,316 (GRCm39) V211A probably benign Het
Myh4 A G 11: 67,141,366 (GRCm39) M780V probably benign Het
Mylip G A 13: 45,560,046 (GRCm39) V161M possibly damaging Het
Nrp1 G A 8: 129,152,450 (GRCm39) V220I probably null Het
Nup210 A T 6: 91,011,823 (GRCm39) N455K probably benign Het
Or14j10 A T 17: 37,935,243 (GRCm39) Y94* probably null Het
Or51f1d C A 7: 102,700,795 (GRCm39) Q97K probably benign Het
Pbld2 G T 10: 62,889,732 (GRCm39) probably null Het
Pclo C G 5: 14,571,917 (GRCm39) P434R probably damaging Het
Pdlim3 A G 8: 46,349,800 (GRCm39) K37E probably damaging Het
Prkdc T A 16: 15,589,970 (GRCm39) I2611N probably benign Het
Prr12 T C 7: 44,677,954 (GRCm39) D2019G unknown Het
Rab27a A G 9: 73,002,685 (GRCm39) T205A probably benign Het
Rcan3 A G 4: 135,152,595 (GRCm39) L42P probably damaging Het
Rchy1 T C 5: 92,103,474 (GRCm39) probably null Het
Sema6a T C 18: 47,382,066 (GRCm39) H827R probably damaging Het
Sertad4 A G 1: 192,533,258 (GRCm39) probably null Het
Smarcd1 T A 15: 99,605,264 (GRCm39) C282S probably damaging Het
Speg A G 1: 75,377,866 (GRCm39) T769A possibly damaging Het
Syne1 T A 10: 5,297,875 (GRCm39) K1141* probably null Het
Synpo2 T C 3: 122,911,315 (GRCm39) E110G probably benign Het
Tg T A 15: 66,722,351 (GRCm39) D333E probably benign Het
Tmem132c A G 5: 127,436,955 (GRCm39) Y148C probably damaging Het
Tmem215 T A 4: 40,473,965 (GRCm39) V14E probably damaging Het
Tmem229b A G 12: 79,011,685 (GRCm39) L82P probably damaging Het
Togaram1 A G 12: 65,013,039 (GRCm39) T97A probably benign Het
Trappc9 G A 15: 72,565,397 (GRCm39) R965* probably null Het
Trio T C 15: 27,833,071 (GRCm39) I104V probably benign Het
Trp73 A G 4: 154,148,352 (GRCm39) F354S probably benign Het
Ttyh2 T C 11: 114,577,278 (GRCm39) L63P probably damaging Het
Ulk4 G C 9: 120,873,841 (GRCm39) P1197A probably damaging Het
Vmn1r176 T C 7: 23,534,536 (GRCm39) M206V possibly damaging Het
Vps8 T A 16: 21,285,226 (GRCm39) Y402* probably null Het
Zbtb41 A G 1: 139,350,931 (GRCm39) I15V probably benign Het
Zc3hav1 T C 6: 38,284,170 (GRCm39) I982V possibly damaging Het
Zmynd19 T A 2: 24,848,123 (GRCm39) N106K probably benign 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
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
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'- AACCAACTCTGTGGATTGTTCTCTGAC -3'
(R):5'- GGAGCTTACTGAACATTCTTCCACCC -3'

Sequencing Primer
(F):5'- ACAGGCCAGCCTTCTTAAATTC -3'
(R):5'- GGCCACCCTTTGTTGATGC -3'
Posted On 2014-04-13