Incidental Mutation 'R1677:Myh7'
ID 188210
Institutional Source Beutler Lab
Gene Symbol Myh7
Ensembl Gene ENSMUSG00000053093
Gene Name myosin, heavy polypeptide 7, cardiac muscle, beta
Synonyms beta-MHC, MyHC-I, MYH-beta/slow, betaMHC, Myhcb, Myhc-b, B-MHC
MMRRC Submission 039713-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R1677 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55224973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 531 (M531I)
Ref Sequence ENSEMBL: ENSMUSP00000126840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000168485] [ENSMUST00000227518] [ENSMUST00000228837]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000102803
AA Change: M531I

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: M531I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Myosin_N 34 73 3.8e-16 PFAM
MYSc 79 779 N/A SMART
IQ 780 802 2.5e-2 SMART
Pfam:Myosin_tail_1 843 1924 5.6e-168 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149852
Predicted Effect probably benign
Transcript: ENSMUST00000168485
AA Change: M531I

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: M531I

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Myosin_N 34 75 1.6e-17 PFAM
MYSc 79 779 N/A SMART
IQ 780 802 2.5e-2 SMART
PDB:2FXO|D 838 963 6e-53 PDB
Pfam:Myosin_tail_1 1068 1926 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228715
Predicted Effect probably benign
Transcript: ENSMUST00000228837
Meta Mutation Damage Score 0.1120 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (95/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
4931406C07Rik T C 9: 15,212,660 (GRCm39) probably null Het
A430005L14Rik G A 4: 154,045,357 (GRCm39) V129M probably damaging Het
Actg2 T C 6: 83,499,801 (GRCm39) T150A possibly damaging Het
Actn1 A T 12: 80,306,806 (GRCm39) D20E probably benign Het
Alcam C T 16: 52,091,136 (GRCm39) E461K probably damaging Het
Anapc1 G A 2: 128,518,128 (GRCm39) P242L probably benign Het
Ankrd49 A T 9: 14,692,674 (GRCm39) D163E probably benign Het
Atp8b5 G A 4: 43,372,903 (GRCm39) R1149Q possibly damaging Het
Cacnb3 G T 15: 98,540,455 (GRCm39) V328F probably damaging Het
Camk4 T C 18: 33,309,275 (GRCm39) I226T probably damaging Het
Ccdc148 T C 2: 58,892,176 (GRCm39) D172G probably damaging Het
Cdh12 A G 15: 21,520,491 (GRCm39) I319V probably damaging Het
Cenpc1 T C 5: 86,209,857 (GRCm39) probably benign Het
Cfap69 A C 5: 5,632,457 (GRCm39) N15K probably damaging Het
Ckap2l A C 2: 129,127,087 (GRCm39) S364A possibly damaging Het
Clic6 G A 16: 92,324,972 (GRCm39) G36R probably damaging Het
Col6a3 T C 1: 90,749,583 (GRCm39) Y417C probably benign Het
Cstf3 T A 2: 104,494,623 (GRCm39) probably benign Het
Cyp4f39 G A 17: 32,711,304 (GRCm39) A484T probably benign Het
Dnah3 T C 7: 119,527,963 (GRCm39) N3829D probably damaging Het
Dntt C A 19: 41,017,923 (GRCm39) P16T probably benign Het
Dym T A 18: 75,258,583 (GRCm39) I447N probably damaging Het
Elmo1 T C 13: 20,773,841 (GRCm39) V617A probably benign Het
Elovl7 G A 13: 108,419,160 (GRCm39) G264D probably damaging Het
Epha7 T A 4: 28,947,571 (GRCm39) Y610* probably null Het
Fn1 T C 1: 71,636,814 (GRCm39) I178V probably benign Het
Fndc9 T C 11: 46,129,152 (GRCm39) Y224H probably benign Het
Gad1 T C 2: 70,404,521 (GRCm39) V137A probably damaging Het
Gapvd1 A G 2: 34,590,773 (GRCm39) probably null Het
Gbp11 C T 5: 105,475,277 (GRCm39) C357Y probably damaging Het
Gcc1 G A 6: 28,419,163 (GRCm39) A390V probably benign Het
Gm6811 A G 17: 21,314,185 (GRCm39) noncoding transcript Het
Htt A T 5: 34,985,918 (GRCm39) D1063V probably damaging Het
Igfn1 C T 1: 135,898,839 (GRCm39) A576T probably damaging Het
Il12rb2 T C 6: 67,280,485 (GRCm39) Y240C probably damaging Het
Itga3 T C 11: 94,946,585 (GRCm39) D747G probably damaging Het
Kcnip2 A C 19: 45,782,979 (GRCm39) D134E probably damaging Het
Kif2b C A 11: 91,466,798 (GRCm39) R495I probably damaging Het
Lef1 T C 3: 130,993,938 (GRCm39) probably benign Het
Lias C T 5: 65,548,981 (GRCm39) R4C probably damaging Het
Lpcat2 T C 8: 93,591,560 (GRCm39) V68A probably benign Het
Lrrc37 A T 11: 103,505,768 (GRCm39) S2067T probably benign Het
Lrrc8e A T 8: 4,284,190 (GRCm39) K138N probably damaging Het
Map4k5 G A 12: 69,852,082 (GRCm39) H767Y probably benign Het
Mga C A 2: 119,791,333 (GRCm39) T2406K possibly damaging Het
Mtx1 A T 3: 89,116,648 (GRCm39) S418T probably benign Het
Myorg C T 4: 41,497,947 (GRCm39) R561H probably benign Het
Ncaph2 T A 15: 89,255,427 (GRCm39) M555K probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Ncoa6 T C 2: 155,244,584 (GRCm39) probably benign Het
Nrp2 A G 1: 62,822,479 (GRCm39) S691G probably benign Het
Odad2 T C 18: 7,222,554 (GRCm39) T572A probably benign Het
Odf2l A T 3: 144,845,543 (GRCm39) probably null Het
Or5aq6 T A 2: 86,923,081 (GRCm39) H220L probably benign Het
Pcdh20 A G 14: 88,705,410 (GRCm39) V630A probably damaging Het
Pebp4 T C 14: 70,285,923 (GRCm39) probably null Het
Ppfia3 T A 7: 45,006,090 (GRCm39) M301L probably benign Het
Ppp1r21 C A 17: 88,858,097 (GRCm39) Q203K probably benign Het
Prr23a1 T C 9: 98,725,406 (GRCm39) V256A probably benign Het
Rbfox1 A G 16: 7,110,091 (GRCm39) R150G possibly damaging Het
Rnps1-ps A T 6: 7,982,943 (GRCm39) noncoding transcript Het
Robo3 T C 9: 37,329,005 (GRCm39) R1238G possibly damaging Het
Rp9 T G 9: 22,365,097 (GRCm39) Q35P probably damaging Het
Rsrc1 C A 3: 67,262,808 (GRCm39) A254E probably damaging Het
Shtn1 T A 19: 58,998,222 (GRCm39) K390N probably damaging Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Sirt7 A G 11: 120,515,365 (GRCm39) V97A possibly damaging Het
Slc14a2 A G 18: 78,206,419 (GRCm39) S466P probably benign Het
Slc2a10 T A 2: 165,357,361 (GRCm39) D340E probably benign Het
Slc36a2 A C 11: 55,075,735 (GRCm39) N17K probably benign Het
Slc4a10 A C 2: 62,155,071 (GRCm39) N1086T probably benign Het
Sptb T C 12: 76,676,423 (GRCm39) D177G probably damaging Het
Srpk2 A T 5: 23,730,748 (GRCm39) probably null Het
Sucla2 T G 14: 73,830,121 (GRCm39) V386G probably damaging Het
Susd1 G T 4: 59,424,089 (GRCm39) N45K possibly damaging Het
Tbxas1 T C 6: 38,994,822 (GRCm39) probably benign Het
Topors C T 4: 40,261,776 (GRCm39) E503K probably damaging Het
Trpv5 T C 6: 41,634,731 (GRCm39) R533G probably benign Het
Tshr A G 12: 91,504,115 (GRCm39) H351R possibly damaging Het
Ube2f G A 1: 91,203,037 (GRCm39) V94M probably damaging Het
Ugdh A G 5: 65,580,521 (GRCm39) S216P probably damaging Het
Unc45b T A 11: 82,802,531 (GRCm39) probably null Het
Vmn1r226 A G 17: 20,908,335 (GRCm39) E189G probably damaging Het
Xrcc6 T G 15: 81,913,900 (GRCm39) D75E probably benign Het
Ypel1 A G 16: 16,921,474 (GRCm39) L70P probably damaging Het
Zcwpw1 A T 5: 137,795,022 (GRCm39) R73W probably damaging Het
Zfp219 T C 14: 52,246,512 (GRCm39) E160G probably damaging Het
Zfp804b G T 5: 7,229,533 (GRCm39) probably benign Het
Zscan22 C A 7: 12,640,730 (GRCm39) P325T probably damaging Het
Other mutations in Myh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Myh7 APN 14 55,224,845 (GRCm39) missense probably damaging 1.00
IGL01025:Myh7 APN 14 55,216,994 (GRCm39) missense probably damaging 1.00
IGL01092:Myh7 APN 14 55,209,089 (GRCm39) missense possibly damaging 0.91
IGL01384:Myh7 APN 14 55,208,916 (GRCm39) missense probably damaging 1.00
IGL01457:Myh7 APN 14 55,226,336 (GRCm39) missense possibly damaging 0.66
IGL01671:Myh7 APN 14 55,210,381 (GRCm39) missense probably damaging 1.00
IGL01923:Myh7 APN 14 55,222,916 (GRCm39) critical splice donor site probably null
IGL02183:Myh7 APN 14 55,212,188 (GRCm39) missense probably benign
IGL02379:Myh7 APN 14 55,216,925 (GRCm39) missense probably damaging 1.00
IGL02884:Myh7 APN 14 55,230,276 (GRCm39) missense probably benign 0.26
IGL02898:Myh7 APN 14 55,221,197 (GRCm39) missense probably damaging 1.00
IGL03027:Myh7 APN 14 55,221,007 (GRCm39) missense probably damaging 1.00
IGL03061:Myh7 APN 14 55,228,661 (GRCm39) unclassified probably benign
IGL03145:Myh7 APN 14 55,220,802 (GRCm39) missense probably damaging 1.00
IGL03250:Myh7 APN 14 55,229,704 (GRCm39) missense probably damaging 1.00
IGL03394:Myh7 APN 14 55,212,818 (GRCm39) missense probably damaging 1.00
BB008:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
BB018:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
R0019:Myh7 UTSW 14 55,221,191 (GRCm39) missense possibly damaging 0.91
R0030:Myh7 UTSW 14 55,229,427 (GRCm39) missense probably benign 0.00
R0183:Myh7 UTSW 14 55,216,333 (GRCm39) missense probably benign 0.02
R0230:Myh7 UTSW 14 55,211,390 (GRCm39) missense probably benign 0.03
R0295:Myh7 UTSW 14 55,222,278 (GRCm39) splice site probably benign
R0423:Myh7 UTSW 14 55,216,646 (GRCm39) missense probably benign 0.06
R0537:Myh7 UTSW 14 55,228,256 (GRCm39) missense possibly damaging 0.81
R0541:Myh7 UTSW 14 55,212,158 (GRCm39) missense probably benign
R0581:Myh7 UTSW 14 55,222,953 (GRCm39) missense probably benign 0.02
R0786:Myh7 UTSW 14 55,230,330 (GRCm39) start codon destroyed probably null
R0866:Myh7 UTSW 14 55,210,596 (GRCm39) missense probably benign
R1068:Myh7 UTSW 14 55,224,776 (GRCm39) missense possibly damaging 0.93
R1075:Myh7 UTSW 14 55,224,860 (GRCm39) missense probably benign
R1124:Myh7 UTSW 14 55,211,327 (GRCm39) missense possibly damaging 0.78
R1140:Myh7 UTSW 14 55,210,339 (GRCm39) missense probably damaging 1.00
R1260:Myh7 UTSW 14 55,225,908 (GRCm39) missense probably benign 0.00
R1653:Myh7 UTSW 14 55,228,246 (GRCm39) missense probably benign 0.00
R1760:Myh7 UTSW 14 55,210,170 (GRCm39) missense probably damaging 1.00
R1838:Myh7 UTSW 14 55,210,637 (GRCm39) missense possibly damaging 0.91
R1839:Myh7 UTSW 14 55,210,637 (GRCm39) missense possibly damaging 0.91
R2483:Myh7 UTSW 14 55,210,838 (GRCm39) missense probably damaging 0.99
R2566:Myh7 UTSW 14 55,220,699 (GRCm39) missense probably damaging 1.00
R3623:Myh7 UTSW 14 55,210,838 (GRCm39) missense probably damaging 0.99
R3916:Myh7 UTSW 14 55,211,503 (GRCm39) missense probably damaging 0.97
R4236:Myh7 UTSW 14 55,228,575 (GRCm39) missense probably benign 0.34
R4471:Myh7 UTSW 14 55,229,311 (GRCm39) nonsense probably null
R4700:Myh7 UTSW 14 55,225,778 (GRCm39) missense possibly damaging 0.85
R4805:Myh7 UTSW 14 55,222,590 (GRCm39) missense probably benign 0.27
R4880:Myh7 UTSW 14 55,216,045 (GRCm39) missense probably benign 0.18
R4975:Myh7 UTSW 14 55,209,128 (GRCm39) missense probably damaging 1.00
R4982:Myh7 UTSW 14 55,210,224 (GRCm39) missense probably damaging 0.98
R5004:Myh7 UTSW 14 55,209,140 (GRCm39) missense probably damaging 0.99
R5107:Myh7 UTSW 14 55,223,881 (GRCm39) intron probably benign
R5124:Myh7 UTSW 14 55,223,199 (GRCm39) nonsense probably null
R5256:Myh7 UTSW 14 55,216,965 (GRCm39) missense probably damaging 1.00
R5335:Myh7 UTSW 14 55,224,020 (GRCm39) intron probably benign
R5581:Myh7 UTSW 14 55,216,411 (GRCm39) missense probably benign 0.00
R5861:Myh7 UTSW 14 55,226,347 (GRCm39) missense possibly damaging 0.89
R5957:Myh7 UTSW 14 55,226,535 (GRCm39) missense probably damaging 1.00
R6027:Myh7 UTSW 14 55,208,259 (GRCm39) missense probably benign 0.01
R6184:Myh7 UTSW 14 55,226,315 (GRCm39) missense probably damaging 1.00
R6232:Myh7 UTSW 14 55,226,753 (GRCm39) missense probably benign 0.00
R6268:Myh7 UTSW 14 55,226,741 (GRCm39) missense probably benign 0.00
R6274:Myh7 UTSW 14 55,216,943 (GRCm39) missense probably damaging 0.97
R6345:Myh7 UTSW 14 55,221,149 (GRCm39) missense probably damaging 1.00
R6383:Myh7 UTSW 14 55,226,351 (GRCm39) missense probably benign 0.00
R6641:Myh7 UTSW 14 55,219,737 (GRCm39) missense probably benign 0.37
R6755:Myh7 UTSW 14 55,229,770 (GRCm39) missense possibly damaging 0.71
R6952:Myh7 UTSW 14 55,229,197 (GRCm39) missense probably damaging 1.00
R7025:Myh7 UTSW 14 55,212,101 (GRCm39) nonsense probably null
R7201:Myh7 UTSW 14 55,228,402 (GRCm39) missense possibly damaging 0.58
R7257:Myh7 UTSW 14 55,209,947 (GRCm39) splice site probably null
R7296:Myh7 UTSW 14 55,227,482 (GRCm39) missense probably benign 0.05
R7709:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7710:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7711:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7712:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7817:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7858:Myh7 UTSW 14 55,227,500 (GRCm39) missense probably benign 0.09
R7869:Myh7 UTSW 14 55,226,530 (GRCm39) missense probably damaging 0.99
R7870:Myh7 UTSW 14 55,226,258 (GRCm39) missense probably damaging 1.00
R7887:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
R7931:Myh7 UTSW 14 55,221,119 (GRCm39) missense possibly damaging 0.79
R7936:Myh7 UTSW 14 55,216,920 (GRCm39) missense possibly damaging 0.93
R8056:Myh7 UTSW 14 55,210,776 (GRCm39) nonsense probably null
R8061:Myh7 UTSW 14 55,228,398 (GRCm39) missense probably benign
R8101:Myh7 UTSW 14 55,210,776 (GRCm39) nonsense probably null
R8202:Myh7 UTSW 14 55,227,497 (GRCm39) missense probably benign
R8504:Myh7 UTSW 14 55,227,786 (GRCm39) missense probably damaging 0.98
R8560:Myh7 UTSW 14 55,213,405 (GRCm39) missense possibly damaging 0.93
R8843:Myh7 UTSW 14 55,212,752 (GRCm39) missense probably damaging 0.98
R8903:Myh7 UTSW 14 55,230,228 (GRCm39) nonsense probably null
R8926:Myh7 UTSW 14 55,222,533 (GRCm39) missense probably benign 0.33
R8936:Myh7 UTSW 14 55,228,440 (GRCm39) missense probably benign 0.00
R9182:Myh7 UTSW 14 55,226,374 (GRCm39) missense probably damaging 1.00
R9260:Myh7 UTSW 14 55,224,842 (GRCm39) missense probably damaging 0.99
R9264:Myh7 UTSW 14 55,213,454 (GRCm39) missense probably benign 0.01
R9288:Myh7 UTSW 14 55,222,932 (GRCm39) missense probably benign 0.35
R9362:Myh7 UTSW 14 55,222,932 (GRCm39) missense probably benign 0.00
R9497:Myh7 UTSW 14 55,217,841 (GRCm39) missense probably benign 0.12
R9561:Myh7 UTSW 14 55,216,146 (GRCm39) missense probably damaging 1.00
R9663:Myh7 UTSW 14 55,221,098 (GRCm39) missense probably damaging 1.00
R9789:Myh7 UTSW 14 55,229,384 (GRCm39) missense possibly damaging 0.87
Z1192:Myh7 UTSW 14 55,220,748 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGCTGAGCAGCTTGAGGGAAGAC -3'
(R):5'- ATCCCCACTTGTGGAAAGCTTGAC -3'

Sequencing Primer
(F):5'- GCCCAGGATATTGTAGTCCACAG -3'
(R):5'- CTTGACAAGTGTCAAACATTAGGC -3'
Posted On 2014-05-09