Incidental Mutation 'R7869:Myh7'
ID 608010
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 045921-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R7869 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55226530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 410 (Y410H)
Ref Sequence ENSEMBL: ENSMUSP00000099867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]
AlphaFold Q91Z83
Predicted Effect probably damaging
Transcript: ENSMUST00000102803
AA Change: Y410H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: Y410H

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 probably benign
Transcript: ENSMUST00000153783
SMART Domains Protein: ENSMUSP00000116595
Gene: ENSMUSG00000053093

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Myosin_N 34 61 8.8e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168485
AA Change: Y410H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: Y410H

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: ENSMUST00000226424
Predicted Effect probably benign
Transcript: ENSMUST00000227518
Predicted Effect probably benign
Transcript: ENSMUST00000228837
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G A 5: 113,332,001 (GRCm39) R738C possibly damaging Het
Acot12 G A 13: 91,919,844 (GRCm39) V260M probably benign Het
Alkbh8 A T 9: 3,359,503 (GRCm39) H264L probably damaging Het
Arfgef2 C T 2: 166,715,623 (GRCm39) T1356I probably damaging Het
Arhgap27 A T 11: 103,251,130 (GRCm39) N199K probably damaging Het
Asic2 T C 11: 81,858,824 (GRCm39) R63G probably damaging Het
Aspa T A 11: 73,204,378 (GRCm39) M197L probably benign Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Brdt A T 5: 107,518,045 (GRCm39) I723L probably benign Het
C2cd3 T A 7: 100,118,698 (GRCm39) F2312Y probably damaging Het
Cd19 T C 7: 126,009,698 (GRCm39) N456S probably damaging Het
Ceacam1 G T 7: 25,175,954 (GRCm39) A80E probably damaging Het
Cep135 T C 5: 76,788,803 (GRCm39) V1132A probably benign Het
Cep85 A G 4: 133,859,609 (GRCm39) C687R probably damaging Het
Cln5 A G 14: 103,313,501 (GRCm39) Y251C probably damaging Het
Crygc A G 1: 65,111,014 (GRCm39) M91T possibly damaging Het
Ddt T C 10: 75,609,060 (GRCm39) K33R probably damaging Het
Dhfr G A 13: 92,494,471 (GRCm39) W58* probably null Het
Dhx40 T C 11: 86,688,532 (GRCm39) E297G probably benign Het
Dner T C 1: 84,361,602 (GRCm39) Y669C probably benign Het
Dpys G T 15: 39,656,782 (GRCm39) F428L probably damaging Het
Dspp A C 5: 104,323,531 (GRCm39) T225P probably damaging Het
Elac2 A G 11: 64,890,213 (GRCm39) K656E probably damaging Het
Ern1 T A 11: 106,349,845 (GRCm39) R24* probably null Het
F2rl2 T C 13: 95,837,519 (GRCm39) I188T probably damaging Het
Fam83b C T 9: 76,399,426 (GRCm39) C559Y possibly damaging Het
Fat1 T G 8: 45,504,259 (GRCm39) F4584C probably benign Het
Gabra6 G A 11: 42,207,322 (GRCm39) T254I possibly damaging Het
Garem1 T C 18: 21,432,757 (GRCm39) D24G probably damaging Het
Gas2l2 A T 11: 83,312,816 (GRCm39) L832* probably null Het
Gpr68 C T 12: 100,845,497 (GRCm39) D16N probably benign Het
Il17b T C 18: 61,825,480 (GRCm39) I172T probably damaging Het
Ildr2 T G 1: 166,136,861 (GRCm39) S567A probably benign Het
Kalrn A G 16: 33,809,217 (GRCm39) V2557A probably damaging Het
Kif1b A G 4: 149,268,833 (GRCm39) S1627P probably benign Het
Kif5a G A 10: 127,079,343 (GRCm39) T285M probably damaging Het
Lrif1 G A 3: 106,640,459 (GRCm39) probably null Het
Lrrn2 C T 1: 132,867,116 (GRCm39) T727I unknown Het
Lsg1 T C 16: 30,383,540 (GRCm39) E560G probably benign Het
Map4k4 C A 1: 40,013,204 (GRCm39) Q100K unknown Het
Mipep A T 14: 61,040,385 (GRCm39) R302W probably damaging Het
Morf4l1 G T 9: 89,975,844 (GRCm39) T316K probably damaging Het
Mov10 A T 3: 104,711,994 (GRCm39) V126E probably damaging Het
Muc2 T A 7: 141,303,471 (GRCm39) C559S Het
Nf1 T A 11: 79,309,414 (GRCm39) Y433N probably damaging Het
Nmd3 T C 3: 69,633,750 (GRCm39) L79P probably damaging Het
Nol10 G T 12: 17,408,239 (GRCm39) S155I probably null Het
Or2n1 T C 17: 38,486,830 (GRCm39) L285P possibly damaging Het
Or4p8 T C 2: 88,727,408 (GRCm39) I178V probably benign Het
Or52n2c T A 7: 104,574,311 (GRCm39) Y220F probably damaging Het
Or5b12 A G 19: 12,896,911 (GRCm39) I254T probably benign Het
Pde3b T C 7: 114,093,922 (GRCm39) S389P probably benign Het
Polr1c C T 17: 46,555,817 (GRCm39) G188D probably benign Het
Prpf31 A G 7: 3,633,859 (GRCm39) M65V probably benign Het
Pum2 A G 12: 8,763,595 (GRCm39) T251A probably benign Het
Rabgap1 G A 2: 37,377,142 (GRCm39) V325I probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl15 G T 14: 18,269,017 (GRCm38) Y203* probably null Het
Sac3d1 G A 19: 6,168,456 (GRCm39) P54L possibly damaging Het
Serpina3g A G 12: 104,206,510 (GRCm39) I104V probably benign Het
Setd2 C T 9: 110,379,082 (GRCm39) Q966* probably null Het
Simc1 G T 13: 54,651,713 (GRCm39) D9Y unknown Het
Slc5a8 T C 10: 88,757,567 (GRCm39) L519S probably benign Het
Srcap C A 7: 127,138,366 (GRCm39) Q1179K possibly damaging Het
Srd5a3 T C 5: 76,295,583 (GRCm39) L91P probably damaging Het
Stab1 T C 14: 30,876,429 (GRCm39) T887A probably benign Het
Sult2a6 A G 7: 13,988,737 (GRCm39) F8L not run Het
Thsd7a A T 6: 12,471,123 (GRCm39) C498* probably null Het
Timp4 T C 6: 115,227,355 (GRCm39) I75V probably benign Het
Tspyl4 T A 10: 34,174,096 (GRCm39) M196K probably damaging Het
Ubr2 T C 17: 47,301,934 (GRCm39) E172G probably benign Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Unc13c T G 9: 73,602,159 (GRCm39) L1362F probably damaging Het
Vmn2r11 A G 5: 109,199,986 (GRCm39) V489A probably damaging Het
Vps39 T C 2: 120,169,875 (GRCm39) T226A possibly damaging Het
Zan C T 5: 137,471,863 (GRCm39) E185K 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
R1677:Myh7 UTSW 14 55,224,973 (GRCm39) missense probably benign 0.17
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
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'- GACACCTATGAAGTACTGGCG -3'
(R):5'- AAGAAAGCCGTGGAGTCACC -3'

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