Incidental Mutation 'R5256:Myh6'
ID 399712
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 042827-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5256 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55190118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1055 (R1055Q)
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: R1055Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: R1055Q

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 damaging
Transcript: ENSMUST00000145322
AA Change: R1055Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115326
Gene: ENSMUSG00000040752
AA Change: R1055Q

DomainStartEndE-ValueType
Pfam:Myosin_N 34 75 5.3e-17 PFAM
MYSc 79 781 N/A SMART
IQ 782 804 1.15e-1 SMART
IQ 808 830 3.32e2 SMART
coiled coil region 842 1112 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226297
AA Change: R1055Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2595 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (95/98)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik C A 4: 108,705,262 (GRCm39) probably benign Het
Actr1b T C 1: 36,739,173 (GRCm39) H372R probably benign Het
Ampd2 C A 3: 107,986,865 (GRCm39) probably benign Het
Anapc4 A G 5: 53,020,936 (GRCm39) S612G probably benign Het
Arhgef7 T C 8: 11,850,811 (GRCm39) L141P probably damaging Het
Atl1 A G 12: 70,006,107 (GRCm39) D471G probably damaging Het
Atrn A G 2: 130,787,939 (GRCm39) D247G probably benign Het
Bag1 T A 4: 40,948,022 (GRCm39) R61W probably damaging Het
Card10 C T 15: 78,662,451 (GRCm39) R898H probably damaging Het
Cct6b G A 11: 82,655,046 (GRCm39) A3V probably damaging Het
Cfap54 A T 10: 92,770,953 (GRCm39) L2097* probably null Het
Cfap54 T C 10: 92,880,885 (GRCm39) probably null Het
Chd5 T C 4: 152,456,554 (GRCm39) F964L probably benign Het
Cog5 A G 12: 31,936,204 (GRCm39) T584A probably benign Het
Cpa2 T A 6: 30,547,196 (GRCm39) N157K probably damaging Het
Cpeb1 A T 7: 81,001,587 (GRCm39) M440K probably damaging Het
Cracr2a G A 6: 127,580,992 (GRCm39) C56Y probably damaging Het
Ddb2 A C 2: 91,067,073 (GRCm39) L30R probably damaging Het
Dlk1 T A 12: 109,425,697 (GRCm39) I190N probably damaging Het
Dnaaf4 T C 9: 72,879,362 (GRCm39) probably null Het
Dnajc13 T A 9: 104,080,528 (GRCm39) Y851F possibly damaging Het
Dop1a T A 9: 86,397,381 (GRCm39) L895Q probably damaging Het
F7 G A 8: 13,080,763 (GRCm39) C122Y probably damaging Het
Frrs1 T C 3: 116,696,749 (GRCm39) V573A possibly damaging Het
Galnt2l T C 8: 122,997,175 (GRCm39) probably benign Het
Gm17541 A T 12: 4,739,672 (GRCm39) probably benign Het
Gm5519 A T 19: 33,800,576 (GRCm39) H90L probably damaging Het
Gm5526 T A 1: 45,896,569 (GRCm39) noncoding transcript Het
Gm5709 A T 3: 59,509,971 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,385,569 (GRCm39) V869D possibly damaging Het
Grm7 A T 6: 111,335,182 (GRCm39) Q531L probably benign Het
Hnrnpu C A 1: 178,163,458 (GRCm39) C265F unknown Het
Hoxd3 G A 2: 74,577,211 (GRCm39) V364I possibly damaging Het
Hspb8 T C 5: 116,547,532 (GRCm39) D150G probably damaging Het
Hydin C A 8: 111,313,855 (GRCm39) N4244K possibly damaging Het
Ik A G 18: 36,881,926 (GRCm39) D136G probably benign Het
Il11ra1 T C 4: 41,767,932 (GRCm39) probably benign Het
Jph1 T C 1: 17,161,622 (GRCm39) I347V probably benign Het
Klk1 T A 7: 43,870,985 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,265,087 (GRCm39) probably benign Het
Lnx1 C T 5: 74,846,315 (GRCm39) C45Y probably damaging Het
Macc1 T A 12: 119,410,264 (GRCm39) M344K possibly damaging Het
Madcam1 A G 10: 79,500,779 (GRCm39) E32G possibly damaging Het
Mat2a T C 6: 72,411,316 (GRCm39) D383G probably benign Het
Mpst T A 15: 78,297,849 (GRCm39) I289N probably damaging Het
Myh7 T C 14: 55,216,965 (GRCm39) K1131E probably damaging Het
Ndrg3 A T 2: 156,773,125 (GRCm39) probably benign Het
Nebl A G 2: 17,438,786 (GRCm39) S209P probably benign Het
Nid2 A G 14: 19,818,276 (GRCm39) probably null Het
Nup188 A T 2: 30,220,761 (GRCm39) S945C probably damaging Het
Or1j21 A G 2: 36,683,685 (GRCm39) M146V probably benign Het
Or5g23 C T 2: 85,438,817 (GRCm39) V146I probably benign Het
Or8c11 A G 9: 38,289,213 (GRCm39) N12S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Patl2 A G 2: 121,959,368 (GRCm39) L32P probably damaging Het
Pcdh20 T A 14: 88,705,813 (GRCm39) M496L probably benign Het
Pdzd2 A G 15: 12,373,028 (GRCm39) V2369A possibly damaging Het
Pfn2 A G 3: 57,754,812 (GRCm39) V31A probably damaging Het
Plxna4 T C 6: 32,228,007 (GRCm39) N533S probably benign Het
Plxnb1 T C 9: 108,943,661 (GRCm39) F1916S probably damaging Het
Ppp4r3b T C 11: 29,138,293 (GRCm39) F214L probably benign Het
Prox1 T C 1: 189,893,638 (GRCm39) D269G probably benign Het
Rapgef4 T C 2: 71,864,378 (GRCm39) F71S probably damaging Het
Rft1 A G 14: 30,383,243 (GRCm39) I94M probably benign Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Serhl T A 15: 82,986,835 (GRCm39) V117E probably damaging Het
Shroom1 G A 11: 53,356,334 (GRCm39) R336Q probably benign Het
Sik3 A T 9: 46,123,552 (GRCm39) Q1067L probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc28a1 G A 7: 80,771,869 (GRCm39) V118M probably damaging Het
Slco1a6 T A 6: 142,078,427 (GRCm39) I153F probably benign Het
Ss18l1 T C 2: 179,703,735 (GRCm39) Y323H unknown Het
Susd4 G T 1: 182,719,824 (GRCm39) A480S possibly damaging Het
Syne3 A T 12: 104,942,139 (GRCm39) M1K probably null Het
Synpo2l A T 14: 20,711,082 (GRCm39) S513T probably benign Het
Tat A T 8: 110,724,966 (GRCm39) N388I probably benign Het
Tbc1d1 A G 5: 64,439,352 (GRCm39) Y619C probably damaging Het
Tbk1 G A 10: 121,406,590 (GRCm39) T216M probably damaging Het
Tns1 C T 1: 74,034,585 (GRCm39) probably benign Het
Trbv5 T C 6: 41,039,318 (GRCm39) V9A possibly damaging Het
Trpm5 A G 7: 142,636,040 (GRCm39) Y575H probably damaging Het
Ttn A T 2: 76,570,045 (GRCm39) Y25203* probably null Het
Tubb3 C A 8: 124,148,391 (GRCm39) D441E probably benign Het
Usp33 T A 3: 152,097,333 (GRCm39) C850* probably null Het
Vdac1 G A 11: 52,274,905 (GRCm39) probably null Het
Vmn1r232 T C 17: 21,133,846 (GRCm39) I251M probably damaging Het
Vmn2r11 T G 5: 109,202,658 (GRCm39) I140L probably benign Het
Vmn2r6 A T 3: 64,464,263 (GRCm39) N190K probably benign Het
Vps51 T A 19: 6,120,518 (GRCm39) H465L probably benign Het
Zfp318 T G 17: 46,722,995 (GRCm39) I1666S probably benign Het
Zfp446 C T 7: 12,713,231 (GRCm39) R90* probably null Het
Zgrf1 T A 3: 127,396,094 (GRCm39) F547I 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
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'- TTTCAGTGTGTCCAGGGAAG -3'
(R):5'- TATGACCCCAGGAGCTTCTCTG -3'

Sequencing Primer
(F):5'- TGTGTCCAGGGAAGCCAAGC -3'
(R):5'- GTTCTCTGGGATTCCTCATCAGG -3'
Posted On 2016-07-06