Incidental Mutation 'R5256:Myh7'
ID 399714
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 042827-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R5256 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55216965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1131 (K1131E)
Ref Sequence ENSEMBL: ENSMUSP00000126840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085949] [ENSMUST00000102803] [ENSMUST00000168485]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000085949
Predicted Effect probably damaging
Transcript: ENSMUST00000102803
AA Change: K1131E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: K1131E

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: ENSMUST00000104735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149852
Predicted Effect probably damaging
Transcript: ENSMUST00000168485
AA Change: K1131E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: K1131E

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 noncoding transcript
Transcript: ENSMUST00000228715
Meta Mutation Damage Score 0.8413 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (95/98)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik C A 4: 108,705,262 (GRCm39) probably benign Het
Actr1b T C 1: 36,739,173 (GRCm39) H372R probably benign Het
Ampd2 C A 3: 107,986,865 (GRCm39) probably benign Het
Anapc4 A G 5: 53,020,936 (GRCm39) S612G probably benign Het
Arhgef7 T C 8: 11,850,811 (GRCm39) L141P probably damaging Het
Atl1 A G 12: 70,006,107 (GRCm39) D471G probably damaging Het
Atrn A G 2: 130,787,939 (GRCm39) D247G probably benign Het
Bag1 T A 4: 40,948,022 (GRCm39) R61W probably damaging Het
Card10 C T 15: 78,662,451 (GRCm39) R898H probably damaging Het
Cct6b G A 11: 82,655,046 (GRCm39) A3V probably damaging Het
Cfap54 A T 10: 92,770,953 (GRCm39) L2097* probably null Het
Cfap54 T C 10: 92,880,885 (GRCm39) probably null Het
Chd5 T C 4: 152,456,554 (GRCm39) F964L probably benign Het
Cog5 A G 12: 31,936,204 (GRCm39) T584A probably benign Het
Cpa2 T A 6: 30,547,196 (GRCm39) N157K probably damaging Het
Cpeb1 A T 7: 81,001,587 (GRCm39) M440K probably damaging Het
Cracr2a G A 6: 127,580,992 (GRCm39) C56Y probably damaging Het
Ddb2 A C 2: 91,067,073 (GRCm39) L30R probably damaging Het
Dlk1 T A 12: 109,425,697 (GRCm39) I190N probably damaging Het
Dnaaf4 T C 9: 72,879,362 (GRCm39) probably null Het
Dnajc13 T A 9: 104,080,528 (GRCm39) Y851F possibly damaging Het
Dop1a T A 9: 86,397,381 (GRCm39) L895Q probably damaging Het
F7 G A 8: 13,080,763 (GRCm39) C122Y probably damaging Het
Frrs1 T C 3: 116,696,749 (GRCm39) V573A possibly damaging Het
Galnt2l T C 8: 122,997,175 (GRCm39) probably benign Het
Gm17541 A T 12: 4,739,672 (GRCm39) probably benign Het
Gm5519 A T 19: 33,800,576 (GRCm39) H90L probably damaging Het
Gm5526 T A 1: 45,896,569 (GRCm39) noncoding transcript Het
Gm5709 A T 3: 59,509,971 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,385,569 (GRCm39) V869D possibly damaging Het
Grm7 A T 6: 111,335,182 (GRCm39) Q531L probably benign Het
Hnrnpu C A 1: 178,163,458 (GRCm39) C265F unknown Het
Hoxd3 G A 2: 74,577,211 (GRCm39) V364I possibly damaging Het
Hspb8 T C 5: 116,547,532 (GRCm39) D150G probably damaging Het
Hydin C A 8: 111,313,855 (GRCm39) N4244K possibly damaging Het
Ik A G 18: 36,881,926 (GRCm39) D136G probably benign Het
Il11ra1 T C 4: 41,767,932 (GRCm39) probably benign Het
Jph1 T C 1: 17,161,622 (GRCm39) I347V probably benign Het
Klk1 T A 7: 43,870,985 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,265,087 (GRCm39) probably benign Het
Lnx1 C T 5: 74,846,315 (GRCm39) C45Y probably damaging Het
Macc1 T A 12: 119,410,264 (GRCm39) M344K possibly damaging Het
Madcam1 A G 10: 79,500,779 (GRCm39) E32G possibly damaging Het
Mat2a T C 6: 72,411,316 (GRCm39) D383G probably benign Het
Mpst T A 15: 78,297,849 (GRCm39) I289N probably damaging Het
Myh6 C T 14: 55,190,118 (GRCm39) R1055Q probably damaging Het
Ndrg3 A T 2: 156,773,125 (GRCm39) probably benign Het
Nebl A G 2: 17,438,786 (GRCm39) S209P probably benign Het
Nid2 A G 14: 19,818,276 (GRCm39) probably null Het
Nup188 A T 2: 30,220,761 (GRCm39) S945C probably damaging Het
Or1j21 A G 2: 36,683,685 (GRCm39) M146V probably benign Het
Or5g23 C T 2: 85,438,817 (GRCm39) V146I probably benign Het
Or8c11 A G 9: 38,289,213 (GRCm39) N12S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Patl2 A G 2: 121,959,368 (GRCm39) L32P probably damaging Het
Pcdh20 T A 14: 88,705,813 (GRCm39) M496L probably benign Het
Pdzd2 A G 15: 12,373,028 (GRCm39) V2369A possibly damaging Het
Pfn2 A G 3: 57,754,812 (GRCm39) V31A probably damaging Het
Plxna4 T C 6: 32,228,007 (GRCm39) N533S probably benign Het
Plxnb1 T C 9: 108,943,661 (GRCm39) F1916S probably damaging Het
Ppp4r3b T C 11: 29,138,293 (GRCm39) F214L probably benign Het
Prox1 T C 1: 189,893,638 (GRCm39) D269G probably benign Het
Rapgef4 T C 2: 71,864,378 (GRCm39) F71S probably damaging Het
Rft1 A G 14: 30,383,243 (GRCm39) I94M probably benign Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Serhl T A 15: 82,986,835 (GRCm39) V117E probably damaging Het
Shroom1 G A 11: 53,356,334 (GRCm39) R336Q probably benign Het
Sik3 A T 9: 46,123,552 (GRCm39) Q1067L probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc28a1 G A 7: 80,771,869 (GRCm39) V118M probably damaging Het
Slco1a6 T A 6: 142,078,427 (GRCm39) I153F probably benign Het
Ss18l1 T C 2: 179,703,735 (GRCm39) Y323H unknown Het
Susd4 G T 1: 182,719,824 (GRCm39) A480S possibly damaging Het
Syne3 A T 12: 104,942,139 (GRCm39) M1K probably null Het
Synpo2l A T 14: 20,711,082 (GRCm39) S513T probably benign Het
Tat A T 8: 110,724,966 (GRCm39) N388I probably benign Het
Tbc1d1 A G 5: 64,439,352 (GRCm39) Y619C probably damaging Het
Tbk1 G A 10: 121,406,590 (GRCm39) T216M probably damaging Het
Tns1 C T 1: 74,034,585 (GRCm39) probably benign Het
Trbv5 T C 6: 41,039,318 (GRCm39) V9A possibly damaging Het
Trpm5 A G 7: 142,636,040 (GRCm39) Y575H probably damaging Het
Ttn A T 2: 76,570,045 (GRCm39) Y25203* probably null Het
Tubb3 C A 8: 124,148,391 (GRCm39) D441E probably benign Het
Usp33 T A 3: 152,097,333 (GRCm39) C850* probably null Het
Vdac1 G A 11: 52,274,905 (GRCm39) probably null Het
Vmn1r232 T C 17: 21,133,846 (GRCm39) I251M probably damaging Het
Vmn2r11 T G 5: 109,202,658 (GRCm39) I140L probably benign Het
Vmn2r6 A T 3: 64,464,263 (GRCm39) N190K probably benign Het
Vps51 T A 19: 6,120,518 (GRCm39) H465L probably benign Het
Zfp318 T G 17: 46,722,995 (GRCm39) I1666S probably benign Het
Zfp446 C T 7: 12,713,231 (GRCm39) R90* probably null Het
Zgrf1 T A 3: 127,396,094 (GRCm39) F547I 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
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'- TTGGAGGTGACGTCATCCAG -3'
(R):5'- AGGAAAGTTGACTGGGCTGC -3'

Sequencing Primer
(F):5'- TGACGTCATCCAGCTCCAG -3'
(R):5'- GCTGCGCAAGACACCTTC -3'
Posted On 2016-07-06