Incidental Mutation 'R0364:Myh6'
ID 65563
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 038570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0364 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 55185804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1490 (Y1490*)
Ref Sequence ENSEMBL: ENSMUSP00000154634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297] [ENSMUST00000228731]
AlphaFold Q02566
Predicted Effect probably null
Transcript: ENSMUST00000081857
AA Change: Y1490*
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: Y1490*

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 probably null
Transcript: ENSMUST00000226297
AA Change: Y1490*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227905
Predicted Effect probably benign
Transcript: ENSMUST00000228731
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (86/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Arhgef12 A T 9: 42,929,697 (GRCm39) N199K probably damaging Het
Arpc2 A G 1: 74,276,046 (GRCm39) N26S probably null Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc178 C T 18: 22,048,119 (GRCm39) R757H probably damaging Het
Cfap52 A C 11: 67,844,436 (GRCm39) I93S possibly damaging Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dnah12 A G 14: 26,445,628 (GRCm39) T730A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,221,097 (GRCm39) probably benign Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fbxw17 T C 13: 50,586,477 (GRCm39) S40P possibly damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Fyb1 A G 15: 6,610,272 (GRCm39) K282E probably damaging Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,594 (GRCm39) Y628C probably damaging Het
Hexa A G 9: 59,471,218 (GRCm39) N491D probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hpx G T 7: 105,245,471 (GRCm39) Q101K probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b A T 8: 82,723,943 (GRCm39) T492S probably benign Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Itga9 A G 9: 118,670,210 (GRCm39) T177A probably benign Het
Itpkc A C 7: 26,927,174 (GRCm39) S247A possibly damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Kiz T G 2: 146,784,076 (GRCm39) S536R probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Kprp A T 3: 92,731,642 (GRCm39) Y469* probably null Het
Ksr1 A T 11: 78,919,851 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Ltf A T 9: 110,854,235 (GRCm39) N350I probably benign Het
Msl3l2 G A 10: 55,991,947 (GRCm39) R224Q possibly damaging Het
Necap1 A G 6: 122,857,728 (GRCm39) probably benign Het
Nf1 A T 11: 79,332,783 (GRCm39) K810* probably null Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or7g32 G A 9: 19,389,268 (GRCm39) Q90* probably null Het
Or8b40 A G 9: 38,027,325 (GRCm39) T78A probably benign Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Pcdhb17 C A 18: 37,618,888 (GRCm39) A226E possibly damaging Het
Phldb1 A T 9: 44,610,632 (GRCm39) probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Prr14 G A 7: 127,073,751 (GRCm39) R205H probably benign Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rusf1 C T 7: 127,889,786 (GRCm39) R1H probably damaging Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Slc7a5 A G 8: 122,611,754 (GRCm39) F425L probably benign Het
Slk T A 19: 47,608,628 (GRCm39) L527* probably null Het
Stpg4 T A 17: 87,697,142 (GRCm39) probably null Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tas2r123 T A 6: 132,824,644 (GRCm39) S180R probably benign Het
Tmc2 C T 2: 130,044,023 (GRCm39) R86W probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz1 A T 18: 84,034,249 (GRCm39) I53N probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Ttll7 C A 3: 146,650,936 (GRCm39) R719S possibly damaging Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vps39 T G 2: 120,176,119 (GRCm39) K76T probably damaging Het
Whamm A G 7: 81,243,799 (GRCm39) T674A probably benign Het
Zbtb16 A G 9: 48,654,876 (GRCm39) probably benign Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P 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
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
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
Posted On 2013-08-08