Incidental Mutation 'R8936:Myh7'
ID 680672
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 068779-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R8936 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55228440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 222 (Q222P)
Ref Sequence ENSEMBL: ENSMUSP00000126840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]
AlphaFold Q91Z83
Predicted Effect probably benign
Transcript: ENSMUST00000102803
AA Change: Q222P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: Q222P

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 benign
Transcript: ENSMUST00000168485
AA Change: Q222P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: Q222P

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: 99.6%
  • 20x: 98.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,797,101 (GRCm39) K491E probably benign Het
Abcd3 T C 3: 121,569,117 (GRCm39) I374V probably benign Het
Adam34 G A 8: 44,104,439 (GRCm39) T402I probably benign Het
Angptl7 G T 4: 148,581,790 (GRCm39) H199N probably benign Het
Ankrd11 A G 8: 123,621,840 (GRCm39) C671R possibly damaging Het
Anxa7 G A 14: 20,521,495 (GRCm39) P67L unknown Het
Ap3d1 T A 10: 80,547,952 (GRCm39) Q913H probably benign Het
Arhgef37 A G 18: 61,656,948 (GRCm39) I39T probably damaging Het
Armh4 G A 14: 50,008,024 (GRCm39) T483I probably damaging Het
C3ar1 T A 6: 122,828,044 (GRCm39) T58S probably damaging Het
Caap1 A T 4: 94,389,332 (GRCm39) L334Q probably damaging Het
Ccr1 A T 9: 123,763,882 (GRCm39) I216K probably damaging Het
Cdh9 T A 15: 16,831,162 (GRCm39) probably null Het
Cept1 A G 3: 106,411,921 (GRCm39) F351S possibly damaging Het
Cfap61 A G 2: 145,791,879 (GRCm39) D112G possibly damaging Het
Cul9 T A 17: 46,839,528 (GRCm39) S817C possibly damaging Het
Dido1 A G 2: 180,303,195 (GRCm39) S1570P probably benign Het
Disc1 A G 8: 125,814,754 (GRCm39) D206G probably damaging Het
Dock5 T A 14: 68,083,439 (GRCm39) R157* probably null Het
Dpp6 A G 5: 27,926,140 (GRCm39) D738G probably damaging Het
Enpep A G 3: 129,125,884 (GRCm39) F83L possibly damaging Het
F10 G T 8: 13,095,086 (GRCm39) W81L probably damaging Het
Fam217a T C 13: 35,095,147 (GRCm39) D356G probably damaging Het
Fes T C 7: 80,031,473 (GRCm39) E467G probably damaging Het
Fignl2 A T 15: 100,951,339 (GRCm39) D314E unknown Het
Foxh1 T C 15: 76,552,719 (GRCm39) probably benign Het
Gdpd5 T C 7: 99,109,199 (GRCm39) L573P probably benign Het
Gigyf1 T A 5: 137,523,469 (GRCm39) S934T probably damaging Het
Gm7356 C T 17: 14,221,937 (GRCm39) V31I probably benign Het
Hoatz A G 9: 51,011,298 (GRCm39) probably null Het
Hoxa2 C A 6: 52,140,517 (GRCm39) K156N probably damaging Het
Ifi203 G A 1: 173,756,857 (GRCm39) probably benign Het
Il5ra A T 6: 106,692,604 (GRCm39) D380E possibly damaging Het
Ino80c C A 18: 24,254,865 (GRCm39) probably benign Het
Kif18a T A 2: 109,163,966 (GRCm39) W772R probably benign Het
Lipo3 G T 19: 33,557,880 (GRCm39) Q171K probably damaging Het
Mga A T 2: 119,794,709 (GRCm39) T2798S probably damaging Het
Msantd5l A G 11: 51,145,249 (GRCm39) S113P probably damaging Het
Mybpc1 T A 10: 88,394,437 (GRCm39) T297S probably benign Het
N4bp2l2 T C 5: 150,585,362 (GRCm39) D206G probably benign Het
Nacc2 G C 2: 25,952,216 (GRCm39) T380S probably benign Het
Niban3 T A 8: 72,060,307 (GRCm39) probably benign Het
Nkpd1 T A 7: 19,255,875 (GRCm39) D186E probably damaging Het
Nol10 A T 12: 17,466,863 (GRCm39) E581V probably benign Het
Ntrk1 A T 3: 87,693,366 (GRCm39) N255K possibly damaging Het
Nudt5 T G 2: 5,869,228 (GRCm39) D151E probably benign Het
Obscn A T 11: 58,892,858 (GRCm39) L6796Q probably benign Het
Or10p21 C T 10: 128,847,802 (GRCm39) A216V probably benign Het
Or4k2 A G 14: 50,423,999 (GRCm39) I225T possibly damaging Het
Oxct2b A G 4: 123,010,838 (GRCm39) T253A probably benign Het
Patl1 G A 19: 11,891,725 (GRCm39) C10Y probably damaging Het
Pikfyve A G 1: 65,310,427 (GRCm39) R1905G possibly damaging Het
Pkhd1l1 A G 15: 44,402,312 (GRCm39) E2228G possibly damaging Het
Plcg1 A G 2: 160,589,986 (GRCm39) K135E probably benign Het
Proz A G 8: 13,115,319 (GRCm39) T112A probably benign Het
Prune2 A G 19: 17,099,199 (GRCm39) N1568D probably benign Het
Rbm4 A G 19: 4,837,539 (GRCm39) V431A probably benign Het
Rgs19 G T 2: 181,333,058 (GRCm39) C40* probably null Het
Rimbp3 T A 16: 17,030,884 (GRCm39) I1436K probably benign Het
Rnps1 T A 17: 24,641,176 (GRCm39) M192K probably damaging Het
Rrad C T 8: 105,355,222 (GRCm39) R262Q possibly damaging Het
Slc17a9 G A 2: 180,380,210 (GRCm39) V318I probably benign Het
Slc5a12 A G 2: 110,467,455 (GRCm39) I412V probably damaging Het
Smc4 T A 3: 68,925,491 (GRCm39) N329K probably benign Het
St3gal4 G A 9: 34,964,723 (GRCm39) R165W probably damaging Het
Strbp G A 2: 37,493,949 (GRCm39) R375* probably null Het
Tacc2 A G 7: 130,228,367 (GRCm39) N1684S possibly damaging Het
Tet1 A T 10: 62,676,063 (GRCm39) L671* probably null Het
Tex2 C A 11: 106,458,144 (GRCm39) E429* probably null Het
Tgm4 T C 9: 122,869,541 (GRCm39) I40T possibly damaging Het
Tmem132d C T 5: 127,869,676 (GRCm39) D553N probably damaging Het
Tnks A T 8: 35,320,501 (GRCm39) Y723* probably null Het
Tnks1bp1 A T 2: 84,894,320 (GRCm39) T1416S probably benign Het
Tnxb T A 17: 34,904,646 (GRCm39) L1137Q probably damaging Het
Tor4a A C 2: 25,085,202 (GRCm39) C68G probably damaging Het
Tubb2b A C 13: 34,312,445 (GRCm39) V116G probably damaging Het
Upb1 T A 10: 75,250,827 (GRCm39) S99T probably benign Het
Vmn1r31 T A 6: 58,449,083 (GRCm39) I261F unknown Het
Vmn1r53 T C 6: 90,200,571 (GRCm39) Y251C probably benign Het
Vmn2r58 T C 7: 41,513,981 (GRCm39) R221G Het
Vmn2r88 A T 14: 51,655,983 (GRCm39) I740F possibly damaging Het
Zfp644 C T 5: 106,783,503 (GRCm39) G1015R probably damaging Het
Zfy1 T C Y: 738,726 (GRCm39) D160G unknown Het
Zscan25 T A 5: 145,223,200 (GRCm39) V156E probably damaging Het
Zyg11b A T 4: 108,109,356 (GRCm39) F443I 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
R8926:Myh7 UTSW 14 55,222,533 (GRCm39) missense probably benign 0.33
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'- GCCCCAAAATGGATTCGGATG -3'
(R):5'- ACTGTCAACACTAAGAGGGTCATC -3'

Sequencing Primer
(F):5'- TCGGATGAATTTCCCCTGAAGAG -3'
(R):5'- AGAGGGTCATCCAATATTTTGCTG -3'
Posted On 2021-08-31