Incidental Mutation 'R0423:Myh7'
ID 186136
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 038625-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R0423 (G1)
Quality Score 49
Status Validated
Chromosome 14
Chromosomal Location 55208141-55232083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55216646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1237 (Q1237L)
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 benign
Transcript: ENSMUST00000102803
AA Change: Q1237L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: Q1237L

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 benign
Transcript: ENSMUST00000168485
AA Change: Q1237L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: Q1237L

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: ENSMUST00000181782
SMART Domains Protein: ENSMUSP00000137786
Gene: ENSMUSG00000097652

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
low complexity region 44 94 N/A INTRINSIC
low complexity region 139 151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228715
Meta Mutation Damage Score 0.1637 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 99% (84/85)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,261,825 (GRCm39) noncoding transcript Het
A630001G21Rik A G 1: 85,654,187 (GRCm39) I50T probably benign Het
Abhd12 T C 2: 150,680,312 (GRCm39) T264A possibly damaging Het
Acsm3 T C 7: 119,376,382 (GRCm39) Y370H probably damaging Het
Ank2 G T 3: 126,723,509 (GRCm39) Y3789* probably null Het
Anxa4 C T 6: 86,737,719 (GRCm39) A1T probably damaging Het
Apba1 T A 19: 23,922,362 (GRCm39) V810D probably damaging Het
Bank1 A G 3: 135,989,778 (GRCm39) I104T possibly damaging Het
Birc6 T C 17: 75,003,292 (GRCm39) Y4721H probably damaging Het
Bmpr2 A G 1: 59,907,669 (GRCm39) T921A probably benign Het
Ccdc102a A C 8: 95,632,554 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,869,794 (GRCm39) D904Y probably damaging Het
Ccdc96 A G 5: 36,642,591 (GRCm39) K199R probably benign Het
Cdh10 G A 15: 18,986,965 (GRCm39) V399I probably benign Het
Cenpk A G 13: 104,370,733 (GRCm39) T85A probably benign Het
Col6a2 A C 10: 76,450,751 (GRCm39) V60G possibly damaging Het
Cops7b A G 1: 86,526,753 (GRCm39) D119G probably benign Het
Cstf2t A G 19: 31,061,676 (GRCm39) E404G possibly damaging Het
Ctnna2 A T 6: 77,630,052 (GRCm39) V134E probably damaging Het
Cwh43 A C 5: 73,574,085 (GRCm39) M250L probably benign Het
Daam2 T A 17: 49,776,449 (GRCm39) K813* probably null Het
Dhcr24 G A 4: 106,443,733 (GRCm39) probably benign Het
Dnah8 G T 17: 30,920,955 (GRCm39) R1182L probably benign Het
Doc2a C T 7: 126,447,830 (GRCm39) P25S probably damaging Het
Dst A G 1: 34,317,116 (GRCm39) S6823G possibly damaging Het
Espl1 T A 15: 102,212,421 (GRCm39) L509* probably null Het
Fbxw19 C T 9: 109,315,134 (GRCm39) V143I probably benign Het
Fbxw5 A G 2: 25,394,538 (GRCm39) T171A possibly damaging Het
Gfra2 C T 14: 71,133,521 (GRCm39) T117M probably damaging Het
Gm454 T A 5: 138,202,403 (GRCm39) noncoding transcript Het
Ilrun A C 17: 28,005,207 (GRCm39) Y117D probably damaging Het
Kcnq4 A G 4: 120,574,705 (GRCm39) S120P probably damaging Het
Krt84 A T 15: 101,437,155 (GRCm39) L336Q probably damaging Het
Lilra6 T A 7: 3,917,774 (GRCm39) probably benign Het
Mbnl2 G A 14: 120,562,736 (GRCm39) R29H probably damaging Het
Mcm3ap G A 10: 76,338,539 (GRCm39) G1389D probably benign Het
Mettl13 A T 1: 162,371,954 (GRCm39) I305N probably damaging Het
Muc6 A G 7: 141,238,548 (GRCm39) S30P probably benign Het
Myo9a T G 9: 59,802,619 (GRCm39) D2035E probably damaging Het
Nat10 A G 2: 103,578,572 (GRCm39) S211P probably damaging Het
Ntm T C 9: 29,090,395 (GRCm39) Y108C probably damaging Het
Or14c39 T C 7: 86,344,434 (GRCm39) Y257H possibly damaging Het
Or7g25 A T 9: 19,160,248 (GRCm39) L149* probably null Het
Pcdhb16 A G 18: 37,613,422 (GRCm39) D794G probably benign Het
Phlpp1 A G 1: 106,267,345 (GRCm39) T753A probably benign Het
Pierce1 T C 2: 28,356,036 (GRCm39) probably benign Het
Pnldc1 T C 17: 13,108,963 (GRCm39) Q511R possibly damaging Het
Ppip5k2 A G 1: 97,689,152 (GRCm39) S38P possibly damaging Het
Pygb A G 2: 150,665,904 (GRCm39) K593E probably benign Het
Rangap1 A T 15: 81,589,664 (GRCm39) F564I probably damaging Het
Rictor A T 15: 6,803,381 (GRCm39) I498F possibly damaging Het
Rnase12 A T 14: 51,294,613 (GRCm39) V22D probably benign Het
Rpl7l1 T A 17: 47,091,324 (GRCm39) M93L probably benign Het
Smg1 T C 7: 117,776,103 (GRCm39) R1396G possibly damaging Het
Snx19 C A 9: 30,347,133 (GRCm39) T692N probably damaging Het
Spag6 A G 2: 18,715,404 (GRCm39) D61G probably benign Het
Spen T A 4: 141,206,647 (GRCm39) N660I unknown Het
Sptan1 T G 2: 29,918,684 (GRCm39) C2246G probably null Het
Svopl A G 6: 38,013,642 (GRCm39) probably benign Het
Taf2 A T 15: 54,928,078 (GRCm39) N108K probably benign Het
Thbs4 T C 13: 92,893,079 (GRCm39) D703G probably damaging Het
Tle6 G T 10: 81,434,457 (GRCm39) N47K possibly damaging Het
Usp48 G T 4: 137,343,722 (GRCm39) V452L probably benign Het
Ust A T 10: 8,173,912 (GRCm39) S198T probably damaging Het
Wnk2 T A 13: 49,248,894 (GRCm39) M386L possibly damaging Het
Ywhaq T C 12: 21,441,382 (GRCm39) probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp316 A G 5: 143,238,993 (GRCm39) S1009P probably damaging Het
Zfp963 A G 8: 70,197,156 (GRCm39) Y29H probably damaging Het
Zmym4 A G 4: 126,776,112 (GRCm39) probably benign Het
Zranb3 A G 1: 128,019,607 (GRCm39) I45T 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
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
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'- ATTGACAGAACGCTGCGTCTCC -3'
(R):5'- ACGTGCTGTTCTCATAGACCAGGG -3'

Sequencing Primer
(F):5'- AAGGTCCGGCACATCTTC -3'
(R):5'- ggaggaggagctggagg -3'
Posted On 2014-05-07