Incidental Mutation 'R7936:Myh7'
ID 648764
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 045982-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R7936 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55216920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1146 (I1146F)
Ref Sequence ENSEMBL: ENSMUSP00000099867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085949] [ENSMUST00000102803] [ENSMUST00000168485]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000085949
Predicted Effect possibly damaging
Transcript: ENSMUST00000102803
AA Change: I1146F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: I1146F

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 possibly damaging
Transcript: ENSMUST00000168485
AA Change: I1146F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: I1146F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,900,445 (GRCm39) L438* probably null Het
Adamts18 T A 8: 114,493,760 (GRCm39) I460F probably damaging Het
Api5 C T 2: 94,268,392 (GRCm39) probably benign Het
Arap2 A G 5: 62,888,048 (GRCm39) S433P probably damaging Het
Arhgap26 T C 18: 39,338,340 (GRCm39) Y371H probably damaging Het
Asf1b T C 8: 84,695,848 (GRCm39) I163T probably benign Het
Cacna2d2 A G 9: 107,401,326 (GRCm39) N696S probably damaging Het
Carns1 A C 19: 4,216,152 (GRCm39) S677A probably benign Het
Cd276 G A 9: 58,448,113 (GRCm39) probably benign Het
Cdk8 T A 5: 146,236,644 (GRCm39) M353K possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chsy3 A G 18: 59,542,418 (GRCm39) I519V probably damaging Het
Chtop T C 3: 90,414,658 (GRCm39) probably benign Het
Clstn3 T A 6: 124,408,972 (GRCm39) D892V possibly damaging Het
Col16a1 A T 4: 129,990,664 (GRCm39) probably null Het
Dnah5 A G 15: 28,345,983 (GRCm39) E2441G possibly damaging Het
Dpy19l2 T G 9: 24,469,454 (GRCm39) D734A probably damaging Het
Dusp2 T A 2: 127,178,812 (GRCm39) Y172* probably null Het
Efcab3 A G 11: 104,890,524 (GRCm39) N4202S possibly damaging Het
Efcab3 G A 11: 104,937,385 (GRCm39) probably null Het
Eml4 G A 17: 83,781,115 (GRCm39) R771Q possibly damaging Het
Fat2 T A 11: 55,200,993 (GRCm39) M694L probably benign Het
Fat2 C A 11: 55,201,986 (GRCm39) E363* probably null Het
Gdpgp1 A G 7: 79,888,826 (GRCm39) I286V probably damaging Het
Gps1 T A 11: 120,677,199 (GRCm39) V166E probably damaging Het
H60b T A 10: 22,162,055 (GRCm39) N93K probably benign Het
Imp4 C T 1: 34,482,114 (GRCm39) T79I probably benign Het
Kank3 A G 17: 34,037,841 (GRCm39) S485G probably benign Het
Kcnv2 A G 19: 27,300,167 (GRCm39) N6S probably benign Het
Krba1 A T 6: 48,388,603 (GRCm39) Q534L probably damaging Het
Lgr4 A G 2: 109,836,863 (GRCm39) N399S probably damaging Het
Lgr5 A G 10: 115,288,952 (GRCm39) V564A probably damaging Het
Lrtm2 A G 6: 119,297,394 (GRCm39) F216L probably benign Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Mboat2 C T 12: 25,005,392 (GRCm39) T389M probably damaging Het
Mcoln1 T G 8: 3,555,924 (GRCm39) I73S probably damaging Het
Naa16 G A 14: 79,578,486 (GRCm39) T666I possibly damaging Het
Ncoa1 A G 12: 4,385,873 (GRCm39) S88P possibly damaging Het
Obscn T C 11: 58,941,334 (GRCm39) T4496A possibly damaging Het
Or13a28 T C 7: 140,217,652 (GRCm39) F13L probably damaging Het
Or7a35 T A 10: 78,853,872 (GRCm39) F239I probably damaging Het
Pdxk G T 10: 78,277,012 (GRCm39) A262D possibly damaging Het
Pebp4 T A 14: 70,089,082 (GRCm39) L68Q probably damaging Het
Pfdn5 C T 15: 102,236,978 (GRCm39) H77Y possibly damaging Het
Pld1 T C 3: 28,130,651 (GRCm39) Y484H probably damaging Het
Pou3f3 C A 1: 42,736,560 (GRCm39) N85K unknown Het
Ppm1m C A 9: 106,075,144 (GRCm39) A134S probably damaging Het
Prdm11 A T 2: 92,806,106 (GRCm39) S281R possibly damaging Het
Prdm2 C A 4: 142,862,434 (GRCm39) L285F probably damaging Het
Ptchd3 C T 11: 121,721,939 (GRCm39) R271* probably null Het
Ptprq A C 10: 107,488,572 (GRCm39) V955G probably damaging Het
Pygb A T 2: 150,657,589 (GRCm39) M351L probably benign Het
Rcl1 G A 19: 29,095,805 (GRCm39) probably null Het
Sgip1 A T 4: 102,786,097 (GRCm39) T351S possibly damaging Het
Slc22a5 T C 11: 53,760,215 (GRCm39) N367S probably damaging Het
Sox6 A G 7: 115,143,830 (GRCm39) V437A probably benign Het
Spata16 T A 3: 26,721,572 (GRCm39) M31K possibly damaging Het
Stab1 C A 14: 30,879,372 (GRCm39) V703F possibly damaging Het
Tbc1d4 C T 14: 101,703,190 (GRCm39) G752R probably damaging Het
Tent4b G A 8: 88,978,913 (GRCm39) G505R probably null Het
Tes3-ps C T 13: 49,647,460 (GRCm39) A112V probably benign Het
Tnfrsf19 T C 14: 61,208,382 (GRCm39) T380A probably benign Het
Trim75 C T 8: 65,435,190 (GRCm39) G420E probably damaging Het
Txlnb A G 10: 17,703,712 (GRCm39) D290G probably benign Het
Unc5c T A 3: 141,534,238 (GRCm39) F920I possibly damaging Het
Vmn1r233 T A 17: 21,214,237 (GRCm39) R238* probably null Het
Vmn2r113 A G 17: 23,176,917 (GRCm39) E567G probably benign Het
Vmn2r97 T A 17: 19,150,662 (GRCm39) I503K probably damaging Het
Wdr62 A G 7: 29,964,584 (GRCm39) W387R probably damaging Het
Zfp36l2 A T 17: 84,495,090 (GRCm39) D11E probably benign 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
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
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'- TCTTTTAGAGCTCCAGGGCC -3'

Sequencing Primer
(F):5'- TGACGTCATCCAGCTCCAG -3'
(R):5'- GGCCGGCCTCAATGGAG -3'
Posted On 2020-09-15