Incidental Mutation 'R1845:Myh6'
ID 207676
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 039870-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1845 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55182131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1759 (K1759R)
Ref Sequence ENSEMBL: ENSMUSP00000154634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297] [ENSMUST00000228731]
AlphaFold Q02566
Predicted Effect probably damaging
Transcript: ENSMUST00000081857
AA Change: K1759R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: K1759R

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 damaging
Transcript: ENSMUST00000226297
AA Change: K1759R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227905
Predicted Effect probably benign
Transcript: ENSMUST00000228731
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Abca17 A T 17: 24,486,690 (GRCm39) C1446S probably damaging Het
Asb16 C A 11: 102,167,582 (GRCm39) A316E possibly damaging Het
Axdnd1 C T 1: 156,204,114 (GRCm39) V384I possibly damaging Het
BC024139 A T 15: 76,009,461 (GRCm39) L207* probably null Het
Bcl3 T G 7: 19,543,552 (GRCm39) S305R probably damaging Het
Cachd1 T C 4: 100,634,555 (GRCm39) V77A probably benign Het
Cd101 C T 3: 100,936,764 (GRCm39) probably null Het
Cela1 T C 15: 100,583,048 (GRCm39) N64S probably benign Het
Cep128 T C 12: 91,256,372 (GRCm39) D366G probably benign Het
Col12a1 A G 9: 79,604,823 (GRCm39) V675A probably benign Het
Copg1 A G 6: 87,870,800 (GRCm39) Y201C probably damaging Het
Cyp24a1 T C 2: 170,329,837 (GRCm39) R372G probably benign Het
Dcaf1 A C 9: 106,729,161 (GRCm39) I567L probably benign Het
Dcn A G 10: 97,342,536 (GRCm39) D164G probably benign Het
Dnase2a T A 8: 85,635,951 (GRCm39) H113Q probably benign Het
Espl1 T C 15: 102,207,448 (GRCm39) V304A probably benign Het
Fam193a A G 5: 34,600,716 (GRCm39) D315G possibly damaging Het
Fkbp8 T A 8: 70,983,685 (GRCm39) probably null Het
Foxp4 T A 17: 48,188,884 (GRCm39) T321S probably null Het
Fut10 A G 8: 31,726,328 (GRCm39) N361S probably damaging Het
Gyg1 A T 3: 20,205,286 (GRCm39) V94D probably damaging Het
Has2 T C 15: 56,531,974 (GRCm39) K247R probably damaging Het
Helz2 G T 2: 180,873,878 (GRCm39) D2205E probably benign Het
Hps6 T A 19: 45,993,409 (GRCm39) S449T probably benign Het
Ints10 T C 8: 69,247,323 (GRCm39) Y64H probably damaging Het
Kalrn T C 16: 34,177,331 (GRCm39) H278R probably damaging Het
Klhdc8a T C 1: 132,231,548 (GRCm39) V280A possibly damaging Het
Klk1b5 A G 7: 43,869,549 (GRCm39) M210V probably benign Het
Kmt2c G A 5: 25,578,434 (GRCm39) A614V probably benign Het
Lck T A 4: 129,451,879 (GRCm39) I45F probably benign Het
Lin7a A C 10: 107,247,920 (GRCm39) E75A probably damaging Het
Lrp1 A T 10: 127,414,542 (GRCm39) C1070S probably damaging Het
Mapk8ip3 G T 17: 25,133,557 (GRCm39) N289K probably benign Het
Mbtps1 T C 8: 120,249,232 (GRCm39) D686G probably benign Het
Mknk1 T A 4: 115,730,428 (GRCm39) C178* probably null Het
Mtmr6 A G 14: 60,534,184 (GRCm39) N474S probably damaging Het
Mvb12b A G 2: 33,730,169 (GRCm39) probably null Het
Nfatc1 T C 18: 80,678,746 (GRCm39) K881E possibly damaging Het
Nlrp10 A G 7: 108,526,248 (GRCm39) F30S probably damaging Het
Nop14 G T 5: 34,807,672 (GRCm39) A430E possibly damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j18 A T 2: 36,624,854 (GRCm39) I174F probably damaging Het
Or4c107 A G 2: 88,789,211 (GRCm39) I134V probably damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Or6c205 A G 10: 129,086,463 (GRCm39) E20G probably benign Het
Or6c88 A T 10: 129,407,217 (GRCm39) Q231L probably damaging Het
Or7g17 A T 9: 18,768,782 (GRCm39) Y287F possibly damaging Het
Osbpl7 C A 11: 96,949,954 (GRCm39) S378R probably damaging Het
Otof A T 5: 30,529,067 (GRCm39) Y1775* probably null Het
Parp16 T C 9: 65,122,876 (GRCm39) S46P possibly damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pi16 A T 17: 29,538,361 (GRCm39) Q58L possibly damaging Het
Pld3 C A 7: 27,238,877 (GRCm39) M190I probably benign Het
Plscr4 T G 9: 92,372,099 (GRCm39) I290S probably damaging Het
Ppip5k2 T C 1: 97,651,531 (GRCm39) D928G possibly damaging Het
Ppp1r13l T A 7: 19,102,536 (GRCm39) L15Q probably damaging Het
Prorp T A 12: 55,351,117 (GRCm39) I142N possibly damaging Het
Ptpn14 C A 1: 189,571,699 (GRCm39) S263R possibly damaging Het
Sema7a G A 9: 57,862,182 (GRCm39) V178I possibly damaging Het
Sesn2 A T 4: 132,224,381 (GRCm39) Y342* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sltm A G 9: 70,450,314 (GRCm39) N38S possibly damaging Het
Smg1 T C 7: 117,753,845 (GRCm39) probably benign Het
Spsb1 A T 4: 149,991,367 (GRCm39) V67E probably damaging Het
Suox A G 10: 128,506,408 (GRCm39) V540A possibly damaging Het
Tbc1d12 T A 19: 38,899,529 (GRCm39) I483N probably damaging Het
Tbcb A T 7: 29,923,924 (GRCm39) D198E possibly damaging Het
Tbce T C 13: 14,194,294 (GRCm39) K122E probably benign Het
Tcap T A 11: 98,275,205 (GRCm39) L113H probably damaging Het
Thsd7a A T 6: 12,321,040 (GRCm39) I1545N probably damaging Het
Tmed10 T C 12: 85,421,277 (GRCm39) T55A possibly damaging Het
Tmem268 T A 4: 63,498,180 (GRCm39) V200D probably damaging Het
Tmem45b A C 9: 31,342,651 (GRCm39) I50M probably damaging Het
Trp53bp2 T C 1: 182,286,468 (GRCm39) W1103R probably damaging Het
Ttn C T 2: 76,594,377 (GRCm39) V20524M probably damaging Het
Ulk2 A T 11: 61,703,564 (GRCm39) N379K probably benign Het
Vmn1r59 A G 7: 5,457,553 (GRCm39) V69A probably benign Het
Vmn2r10 A T 5: 109,149,861 (GRCm39) Y394* probably null Het
Zfp212 T C 6: 47,908,475 (GRCm39) S485P probably benign Het
Zfp512b A T 2: 181,227,528 (GRCm39) C776S probably damaging Het
Zfp518b A G 5: 38,829,084 (GRCm39) Y974H 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
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'- TTCTTCATGCGCTCCAGGTG -3'
(R):5'- GCCATCTCCTCAGCCTTAGATG -3'

Sequencing Primer
(F):5'- TGGGCGCTGGTGTCCTG -3'
(R):5'- AGATGGAGTCAGACCTGA -3'
Posted On 2014-06-23