Incidental Mutation 'R7851:Myh6'
ID 606955
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 045904-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7851 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55179378-55204384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55190508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1003 (E1003V)
Ref Sequence ENSEMBL: ENSMUSP00000080538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297]
AlphaFold Q02566
Predicted Effect possibly damaging
Transcript: ENSMUST00000081857
AA Change: E1003V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: E1003V

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 possibly damaging
Transcript: ENSMUST00000226297
AA Change: E1003V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,300,838 (GRCm39) probably null Het
Abcc3 A T 11: 94,250,486 (GRCm39) L905* probably null Het
Adamts9 T G 6: 92,885,687 (GRCm39) D401A probably damaging Het
Ankmy1 T C 1: 92,799,444 (GRCm39) K918E probably damaging Het
Arfgef3 T C 10: 18,468,034 (GRCm39) N1722S probably damaging Het
Arhgef18 A G 8: 3,498,409 (GRCm39) I481V possibly damaging Het
Asxl3 T C 18: 22,650,279 (GRCm39) I756T possibly damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Baz2b C A 2: 59,767,060 (GRCm39) E107D probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Cd2ap A G 17: 43,135,363 (GRCm39) probably null Het
Cnn3 T A 3: 121,250,992 (GRCm39) Y304N possibly damaging Het
Cnot2 G A 10: 116,373,337 (GRCm39) S22L possibly damaging Het
Coq6 A T 12: 84,418,929 (GRCm39) H311L possibly damaging Het
Csf2rb2 T C 15: 78,173,137 (GRCm39) N350S probably benign Het
Dhrs9 T A 2: 69,231,600 (GRCm39) N253K probably benign Het
Dok7 T A 5: 35,214,280 (GRCm39) M1K probably null Het
Eogt T A 6: 97,097,162 (GRCm39) E313D probably benign Het
Etl4 T C 2: 20,748,951 (GRCm39) S430P probably damaging Het
Gfod2 T A 8: 106,454,762 (GRCm39) E39D probably benign Het
Gfral T C 9: 76,112,737 (GRCm39) N65D probably benign Het
Gsdmc4 A T 15: 63,774,595 (GRCm39) L62* probably null Het
Gyg1 T G 3: 20,176,911 (GRCm39) M360L probably benign Het
Hsp90ab1 A T 17: 45,881,378 (GRCm39) S255T probably benign Het
Hyal6 T A 6: 24,734,497 (GRCm39) D143E probably benign Het
Ipp C T 4: 116,372,672 (GRCm39) Q234* probably null Het
Ism1 A T 2: 139,599,185 (GRCm39) D386V probably damaging Het
Jrkl T C 9: 13,244,354 (GRCm39) T436A probably benign Het
Mup3 A C 4: 62,003,494 (GRCm39) I125S possibly damaging Het
Neb T A 2: 52,043,076 (GRCm39) I6785F probably benign Het
Odad4 C T 11: 100,436,655 (GRCm39) T10I probably damaging Het
Or11g24 A G 14: 50,662,827 (GRCm39) T284A probably damaging Het
Or11h4b A G 14: 50,918,915 (GRCm39) Y59H probably damaging Het
Or1j4 T A 2: 36,740,428 (GRCm39) Y123* probably null Het
Or2w25 T C 11: 59,504,789 (GRCm39) V333A probably benign Het
Or6c5c G T 10: 129,299,429 (GRCm39) V295L probably benign Het
Pamr1 A T 2: 102,416,945 (GRCm39) T86S probably benign Het
Pced1a A T 2: 130,264,236 (GRCm39) M168K probably damaging Het
Pigs T C 11: 78,227,613 (GRCm39) L259P probably damaging Het
Plch1 T C 3: 63,605,855 (GRCm39) S1350G probably damaging Het
Prickle1 G A 15: 93,398,440 (GRCm39) T796I possibly damaging Het
Ptcd3 T C 6: 71,879,843 (GRCm39) I138M probably damaging Het
Ptprs T C 17: 56,732,482 (GRCm39) E958G probably benign Het
Rcn3 A T 7: 44,736,236 (GRCm39) D157E probably benign Het
Rft1 T C 14: 30,412,540 (GRCm39) S534P probably benign Het
Ryr3 T C 2: 112,508,862 (GRCm39) T3371A probably benign Het
Scn10a A T 9: 119,446,828 (GRCm39) V1399D probably damaging Het
Sec61a1 T C 6: 88,489,147 (GRCm39) T185A probably benign Het
Sgsm3 G A 15: 80,894,954 (GRCm39) V607M probably damaging Het
Smurf2 T C 11: 106,721,752 (GRCm39) Y581C probably damaging Het
Snx8 C A 5: 140,343,914 (GRCm39) V101L probably damaging Het
Sp100 A T 1: 85,634,647 (GRCm39) K180M probably benign Het
Spire2 T A 8: 124,083,438 (GRCm39) probably null Het
St6galnac2 A G 11: 116,576,764 (GRCm39) S86P probably benign Het
Sybu G A 15: 44,609,852 (GRCm39) Q139* probably null Het
Tas2r114 T A 6: 131,666,888 (GRCm39) I47F probably damaging Het
Tcf21 T C 10: 22,695,747 (GRCm39) D19G probably benign Het
Terb2 T C 2: 122,016,794 (GRCm39) F9L probably damaging Het
Tlr1 T C 5: 65,082,307 (GRCm39) T757A possibly damaging Het
Tmco1 C T 1: 167,136,255 (GRCm39) probably benign Het
Tshz3 T C 7: 36,471,014 (GRCm39) F1001S probably damaging Het
Vmn2r62 G A 7: 42,438,539 (GRCm39) T99I probably benign Het
Wdr7 A T 18: 63,853,398 (GRCm39) T33S 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
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
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'- CCAGAGAACAGAGAAGCTCCTG -3'
(R):5'- TATCGGCCTAGTTGGTAGCATC -3'

Sequencing Primer
(F):5'- AAGCTCCTGGGGTCATAGG -3'
(R):5'- ATCGGCCTAGTTGGTAGCATCTATAC -3'
Posted On 2019-12-20