Incidental Mutation 'R8926:Myh7'
ID 679569
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 068770-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R8926 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55222533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 801 (F801L)
Ref Sequence ENSEMBL: ENSMUSP00000099867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000168485]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000102803
AA Change: F801L

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: F801L

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: ENSMUST00000168485
AA Change: F801L

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: F801L

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: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (69/69)
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
Adgrf3 T A 5: 30,405,446 (GRCm39) D296V possibly damaging Het
Ahi1 T C 10: 20,930,982 (GRCm39) Y941H probably damaging Het
Bscl2 T C 19: 8,825,348 (GRCm39) probably null Het
C1s1 C T 6: 124,510,325 (GRCm39) G374D probably damaging Het
C1s1 T C 6: 124,513,322 (GRCm39) D235G possibly damaging Het
Cacna1e C T 1: 154,577,080 (GRCm39) V106I possibly damaging Het
Ccdc97 G A 7: 25,412,494 (GRCm39) A316V probably benign Het
Ces1a A G 8: 93,751,841 (GRCm39) V431A probably benign Het
Cftr C T 6: 18,268,003 (GRCm39) S684L possibly damaging Het
Cgnl1 T A 9: 71,632,535 (GRCm39) N272I probably benign Het
Csf2rb C T 15: 78,224,749 (GRCm39) S169L probably benign Het
Cux1 T A 5: 136,338,404 (GRCm39) probably benign Het
Cyp11b1 T A 15: 74,711,087 (GRCm39) Y197F probably benign Het
Cyp1a2 T C 9: 57,588,361 (GRCm39) K288E probably benign Het
Dapk1 T A 13: 60,908,734 (GRCm39) W1116R probably damaging Het
Dclre1c A T 2: 3,434,827 (GRCm39) D97V probably damaging Het
Efcc1 A G 6: 87,726,169 (GRCm39) R323G probably benign Het
Epha6 T A 16: 59,659,662 (GRCm39) I819F probably benign Het
Fam118b A T 9: 35,146,732 (GRCm39) L45Q probably damaging Het
Fcgbpl1 G A 7: 27,853,869 (GRCm39) C1611Y probably damaging Het
Fsd1l T G 4: 53,686,493 (GRCm39) I302S probably benign Het
Fsip2 T A 2: 82,823,927 (GRCm39) D6553E possibly damaging Het
Gje1 C T 10: 14,592,435 (GRCm39) V116I probably benign Het
H2-T9 T A 17: 36,420,626 (GRCm39) probably null Het
Helz C A 11: 107,563,509 (GRCm39) H1650N unknown Het
Hltf T G 3: 20,123,323 (GRCm39) probably null Het
Intu T A 3: 40,608,139 (GRCm39) D50E possibly damaging Het
Ipo9 C T 1: 135,313,952 (GRCm39) probably benign Het
Lama5 G A 2: 179,835,783 (GRCm39) T1217I probably benign Het
Lct T A 1: 128,228,148 (GRCm39) Y1115F probably damaging Het
Lpgat1 T C 1: 191,492,120 (GRCm39) L202P probably damaging Het
Lrp1 C T 10: 127,381,671 (GRCm39) R3801H probably benign Het
Mtfmt T A 9: 65,344,414 (GRCm39) Y113* probably null Het
Myl4 G T 11: 104,476,572 (GRCm39) M191I probably benign Het
Myo3a C A 2: 22,401,074 (GRCm39) N614K possibly damaging Het
Naa30 A G 14: 49,425,059 (GRCm39) N337S probably benign Het
Nol10 C A 12: 17,466,871 (GRCm39) Q584K probably benign Het
Nup210 C A 6: 91,030,434 (GRCm39) G919C probably damaging Het
Or13a20 G A 7: 140,232,113 (GRCm39) V74M probably benign Het
Or5p57 G A 7: 107,665,513 (GRCm39) T134I probably benign Het
Pdcd6ip T A 9: 113,514,493 (GRCm39) Q244L probably benign Het
Pde4d T C 13: 110,074,625 (GRCm39) V410A probably benign Het
Plekha7 A T 7: 115,756,223 (GRCm39) probably benign Het
Plpp4 A T 7: 128,923,211 (GRCm39) probably null Het
Poln T C 5: 34,286,769 (GRCm39) N133S probably benign Het
Ppfibp1 A G 6: 146,920,986 (GRCm39) N575D probably damaging Het
Prex2 T A 1: 11,159,930 (GRCm39) probably null Het
Prkar2b A G 12: 32,111,080 (GRCm39) M1T probably null Het
Ptcd3 A G 6: 71,869,464 (GRCm39) F378S probably damaging Het
Rab27b C A 18: 70,129,144 (GRCm39) R50L probably damaging Het
Rpl7a T G 2: 26,801,557 (GRCm39) F83C probably damaging Het
Slc8a2 A G 7: 15,868,194 (GRCm39) E142G probably damaging Het
Slc9a4 A T 1: 40,619,928 (GRCm39) I85L possibly damaging Het
Sorcs1 C A 19: 50,241,096 (GRCm39) W430L possibly damaging Het
Spaca6 T A 17: 18,058,790 (GRCm39) probably null Het
Synrg C A 11: 83,881,567 (GRCm39) A301E possibly damaging Het
Tcl1 G A 12: 105,184,969 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,153,780 (GRCm39) V158M probably damaging Het
Tex2 T G 11: 106,459,230 (GRCm39) T67P Het
Tlr9 A T 9: 106,103,213 (GRCm39) I835L probably benign Het
Tmem185b G C 1: 119,454,406 (GRCm39) V56L probably benign Het
Tssk2 C T 16: 17,717,562 (GRCm39) R322W probably benign Het
Ttn T A 2: 76,571,735 (GRCm39) Y26386F probably benign Het
Txndc16 C A 14: 45,406,771 (GRCm39) R228I possibly damaging Het
Uspl1 T G 5: 149,138,701 (GRCm39) probably null Het
Vmn1r113 A T 7: 20,521,874 (GRCm39) H222L possibly damaging Het
Vnn1 T G 10: 23,776,587 (GRCm39) S313A probably benign Het
Zc3hc1 A T 6: 30,374,887 (GRCm39) L218Q possibly damaging Het
Znrf1 T G 8: 112,264,143 (GRCm39) L124R probably damaging Het
Zzz3 A T 3: 152,133,529 (GRCm39) N196Y possibly 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
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
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'- TGGTGCTTTCCATCTGAGGC -3'
(R):5'- TAAGTTATCCCCAGATGCCCAC -3'

Sequencing Primer
(F):5'- GAGGCCCTTATTCCTAGATAAGTC -3'
(R):5'- AGATGCCCACCACGTCTG -3'
Posted On 2021-08-02