Incidental Mutation 'R7652:Myh7b'
ID 590892
Institutional Source Beutler Lab
Gene Symbol Myh7b
Ensembl Gene ENSMUSG00000074652
Gene Name myosin, heavy chain 7B, cardiac muscle, beta
Synonyms Myh14
MMRRC Submission 045729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7652 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155453132-155476227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155474156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1624 (K1624E)
Ref Sequence ENSEMBL: ENSMUSP00000090672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041059] [ENSMUST00000092995] [ENSMUST00000103140]
AlphaFold A2AQP0
Predicted Effect probably benign
Transcript: ENSMUST00000041059
SMART Domains Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
low complexity region 38 53 N/A INTRINSIC
Pfam:DUF3689 407 714 5.2e-135 PFAM
low complexity region 724 735 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092995
AA Change: K1624E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: K1624E

DomainStartEndE-ValueType
Pfam:Myosin_N 32 72 4.7e-14 PFAM
MYSc 78 786 N/A SMART
IQ 787 809 2.6e0 SMART
Pfam:Myosin_tail_1 850 1931 5.5e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103140
SMART Domains Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324

DomainStartEndE-ValueType
low complexity region 2 35 N/A INTRINSIC
low complexity region 38 53 N/A INTRINSIC
Pfam:DUF3689 399 710 1.1e-138 PFAM
low complexity region 716 727 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer comprised of two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,253,675 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Anxa2r2 A T 13: 120,488,529 (GRCm39) S7T possibly damaging Het
Aph1b T C 9: 66,691,823 (GRCm39) T195A probably benign Het
Apoe G T 7: 19,430,535 (GRCm39) R236S possibly damaging Het
Arap3 G T 18: 38,111,505 (GRCm39) T1137K probably damaging Het
Arhgap45 C T 10: 79,864,672 (GRCm39) A908V probably benign Het
Atp13a1 T C 8: 70,258,209 (GRCm39) C965R probably damaging Het
C7 A G 15: 5,041,587 (GRCm39) Y440H probably damaging Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Ddah2 C A 17: 35,280,026 (GRCm39) R173S possibly damaging Het
Dnajc11 T C 4: 152,058,682 (GRCm39) Y337H probably damaging Het
Dnajc25 A G 4: 59,020,483 (GRCm39) K302R probably benign Het
Dnajc6 A T 4: 101,463,874 (GRCm39) Q209L probably damaging Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Ebf2 G T 14: 67,628,016 (GRCm39) probably null Het
Epx A G 11: 87,766,160 (GRCm39) probably null Het
Eqtn T C 4: 94,816,574 (GRCm39) Y73C probably damaging Het
Fam107b A G 2: 3,773,884 (GRCm39) N21S probably benign Het
Fasn G A 11: 120,707,154 (GRCm39) S857F probably damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Gas8 A G 8: 124,253,275 (GRCm39) I208V probably benign Het
Gm3269 T C 14: 16,026,209 (GRCm39) I88T probably benign Het
Gm8005 C A 14: 42,258,919 (GRCm39) L136F Het
Grid2ip C A 5: 143,368,393 (GRCm39) P743Q probably damaging Het
H2-T15 A T 17: 36,367,675 (GRCm39) V221D probably damaging Het
Hbs1l C T 10: 21,240,659 (GRCm39) T626I probably benign Het
Hdac3 T A 18: 38,087,972 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,496,400 (GRCm39) Y94C probably damaging Het
Homer2 T C 7: 81,299,414 (GRCm39) D17G probably damaging Het
Ikbke C T 1: 131,199,569 (GRCm39) R308Q probably damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Klhl3 G A 13: 58,261,146 (GRCm39) probably benign Het
Klk1b9 A T 7: 43,445,514 (GRCm39) T235S probably benign Het
Kmt2c T C 5: 25,520,717 (GRCm39) T1798A probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Krtap4-6 T C 11: 99,556,440 (GRCm39) I96V unknown Het
Lef1 A C 3: 130,994,003 (GRCm39) R354S probably damaging Het
Lrp6 A T 6: 134,488,208 (GRCm39) L296* probably null Het
Maml2 T C 9: 13,532,945 (GRCm39) Y720H Het
Mmrn1 A G 6: 60,954,490 (GRCm39) N924D probably benign Het
Nos3 T A 5: 24,588,610 (GRCm39) V1112D probably damaging Het
Or2y14 T C 11: 49,404,512 (GRCm39) F16L probably damaging Het
Or4c111 C T 2: 88,843,893 (GRCm39) V172I probably benign Het
Or5an1b C A 19: 12,299,651 (GRCm39) C180F probably damaging Het
Or5w13 A G 2: 87,523,704 (GRCm39) I174T probably damaging Het
Or6c70 A T 10: 129,710,346 (GRCm39) N93K probably damaging Het
Phospho1 T C 11: 95,721,645 (GRCm39) L105S probably damaging Het
Prss35 T A 9: 86,638,023 (GRCm39) N264K probably benign Het
Ptpn13 A G 5: 103,677,578 (GRCm39) D732G probably benign Het
Rab18 A T 18: 6,783,123 (GRCm39) T64S possibly damaging Het
Rft1 A G 14: 30,399,773 (GRCm39) Q319R probably benign Het
Rgs7 T A 1: 174,921,396 (GRCm39) M220L probably benign Het
Rnf13 A G 3: 57,671,772 (GRCm39) N28S probably benign Het
Setd3 A T 12: 108,078,548 (GRCm39) I311N probably damaging Het
Setd5 G A 6: 113,098,725 (GRCm39) R786H probably damaging Het
Slc26a6 T C 9: 108,733,143 (GRCm39) probably null Het
Slc26a9 A T 1: 131,691,634 (GRCm39) T626S probably benign Het
Stambp A T 6: 83,540,910 (GRCm39) probably null Het
Stom A T 2: 35,206,041 (GRCm39) N229K probably benign Het
Tlr1 A T 5: 65,084,130 (GRCm39) L149* probably null Het
Trpc3 C A 3: 36,692,677 (GRCm39) V772F probably benign Het
Ube3a A G 7: 58,893,102 (GRCm39) probably benign Het
Ugt2b35 T A 5: 87,149,369 (GRCm39) F207I probably damaging Het
Usp53 A T 3: 122,746,884 (GRCm39) D360E possibly damaging Het
Vmn2r96 T G 17: 18,793,832 (GRCm39) S59A probably benign Het
Wdr70 A G 15: 8,108,700 (GRCm39) C149R probably benign Het
Wnt3 A G 11: 103,703,290 (GRCm39) T258A possibly damaging Het
Zfp729b T C 13: 67,739,371 (GRCm39) T965A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Myh7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Myh7b APN 2 155,472,212 (GRCm39) missense probably damaging 0.99
IGL01604:Myh7b APN 2 155,474,327 (GRCm39) missense probably damaging 0.96
IGL02179:Myh7b APN 2 155,456,411 (GRCm39) missense probably benign 0.02
IGL02729:Myh7b APN 2 155,467,609 (GRCm39) missense probably damaging 1.00
IGL02804:Myh7b APN 2 155,467,643 (GRCm39) missense probably damaging 1.00
IGL02851:Myh7b APN 2 155,470,747 (GRCm39) missense probably damaging 1.00
IGL02956:Myh7b APN 2 155,467,874 (GRCm39) missense possibly damaging 0.95
IGL02956:Myh7b APN 2 155,474,823 (GRCm39) missense probably damaging 1.00
IGL02992:Myh7b APN 2 155,463,330 (GRCm39) missense probably damaging 0.99
IGL03060:Myh7b APN 2 155,474,671 (GRCm39) missense probably damaging 1.00
IGL03061:Myh7b APN 2 155,462,031 (GRCm39) missense possibly damaging 0.93
IGL03226:Myh7b APN 2 155,462,403 (GRCm39) nonsense probably null
IGL03246:Myh7b APN 2 155,459,792 (GRCm39) missense probably damaging 1.00
IGL03382:Myh7b APN 2 155,465,399 (GRCm39) missense probably damaging 1.00
euclidian UTSW 2 155,475,319 (GRCm39) missense probably benign 0.32
imaginary UTSW 2 155,474,175 (GRCm39) missense probably benign 0.36
Irrational UTSW 2 155,472,592 (GRCm39) unclassified probably benign
Muscoli UTSW 2 155,462,038 (GRCm39) nonsense probably null
R0015:Myh7b UTSW 2 155,464,206 (GRCm39) missense probably damaging 1.00
R0015:Myh7b UTSW 2 155,464,206 (GRCm39) missense probably damaging 1.00
R0109:Myh7b UTSW 2 155,453,594 (GRCm39) missense possibly damaging 0.92
R0309:Myh7b UTSW 2 155,472,592 (GRCm39) unclassified probably benign
R0567:Myh7b UTSW 2 155,468,318 (GRCm39) missense probably damaging 1.00
R0619:Myh7b UTSW 2 155,453,642 (GRCm39) missense probably benign 0.00
R0927:Myh7b UTSW 2 155,462,040 (GRCm39) missense probably damaging 1.00
R0973:Myh7b UTSW 2 155,462,347 (GRCm39) missense probably benign
R0973:Myh7b UTSW 2 155,462,347 (GRCm39) missense probably benign
R0974:Myh7b UTSW 2 155,462,347 (GRCm39) missense probably benign
R1137:Myh7b UTSW 2 155,464,634 (GRCm39) missense probably damaging 1.00
R1261:Myh7b UTSW 2 155,463,003 (GRCm39) missense probably benign 0.00
R1268:Myh7b UTSW 2 155,455,966 (GRCm39) nonsense probably null
R1537:Myh7b UTSW 2 155,473,707 (GRCm39) missense probably damaging 0.96
R1632:Myh7b UTSW 2 155,462,445 (GRCm39) missense probably benign 0.04
R1694:Myh7b UTSW 2 155,455,113 (GRCm39) missense probably damaging 0.99
R1697:Myh7b UTSW 2 155,462,054 (GRCm39) missense probably damaging 1.00
R1730:Myh7b UTSW 2 155,467,592 (GRCm39) missense possibly damaging 0.73
R1762:Myh7b UTSW 2 155,472,778 (GRCm39) missense probably damaging 0.96
R1783:Myh7b UTSW 2 155,467,592 (GRCm39) missense possibly damaging 0.73
R2105:Myh7b UTSW 2 155,471,377 (GRCm39) missense probably benign 0.00
R2140:Myh7b UTSW 2 155,462,043 (GRCm39) missense probably damaging 1.00
R2971:Myh7b UTSW 2 155,474,175 (GRCm39) missense probably benign 0.36
R3838:Myh7b UTSW 2 155,474,909 (GRCm39) missense probably damaging 1.00
R4074:Myh7b UTSW 2 155,460,678 (GRCm39) missense probably damaging 0.96
R4191:Myh7b UTSW 2 155,475,319 (GRCm39) missense probably benign 0.32
R4689:Myh7b UTSW 2 155,472,434 (GRCm39) missense possibly damaging 0.75
R4695:Myh7b UTSW 2 155,456,097 (GRCm39) missense probably damaging 1.00
R4697:Myh7b UTSW 2 155,471,242 (GRCm39) missense probably damaging 1.00
R4771:Myh7b UTSW 2 155,468,314 (GRCm39) nonsense probably null
R4794:Myh7b UTSW 2 155,465,186 (GRCm39) missense probably benign 0.00
R4842:Myh7b UTSW 2 155,475,909 (GRCm39) missense probably benign 0.45
R4871:Myh7b UTSW 2 155,455,420 (GRCm39) missense probably benign 0.18
R5022:Myh7b UTSW 2 155,474,293 (GRCm39) missense possibly damaging 0.75
R5023:Myh7b UTSW 2 155,474,293 (GRCm39) missense possibly damaging 0.75
R5025:Myh7b UTSW 2 155,474,293 (GRCm39) missense possibly damaging 0.75
R5050:Myh7b UTSW 2 155,473,670 (GRCm39) missense probably benign 0.00
R5055:Myh7b UTSW 2 155,474,293 (GRCm39) missense possibly damaging 0.75
R5056:Myh7b UTSW 2 155,474,293 (GRCm39) missense possibly damaging 0.75
R5161:Myh7b UTSW 2 155,474,293 (GRCm39) missense possibly damaging 0.75
R5284:Myh7b UTSW 2 155,474,234 (GRCm39) missense probably benign
R5422:Myh7b UTSW 2 155,472,954 (GRCm39) missense probably damaging 0.99
R5505:Myh7b UTSW 2 155,474,592 (GRCm39) missense probably benign 0.01
R5946:Myh7b UTSW 2 155,463,315 (GRCm39) missense probably damaging 1.00
R6089:Myh7b UTSW 2 155,464,409 (GRCm39) missense probably damaging 1.00
R6103:Myh7b UTSW 2 155,460,663 (GRCm39) missense probably damaging 1.00
R6233:Myh7b UTSW 2 155,473,719 (GRCm39) missense possibly damaging 0.85
R6292:Myh7b UTSW 2 155,474,316 (GRCm39) missense probably damaging 1.00
R6350:Myh7b UTSW 2 155,470,680 (GRCm39) missense probably benign 0.00
R6484:Myh7b UTSW 2 155,470,563 (GRCm39) missense probably benign 0.05
R6760:Myh7b UTSW 2 155,462,038 (GRCm39) nonsense probably null
R6896:Myh7b UTSW 2 155,464,488 (GRCm39) critical splice donor site probably null
R6945:Myh7b UTSW 2 155,464,152 (GRCm39) missense possibly damaging 0.95
R7020:Myh7b UTSW 2 155,473,671 (GRCm39) missense possibly damaging 0.56
R7052:Myh7b UTSW 2 155,456,053 (GRCm39) missense probably damaging 1.00
R7102:Myh7b UTSW 2 155,464,119 (GRCm39) missense probably damaging 1.00
R7248:Myh7b UTSW 2 155,464,106 (GRCm39) missense probably damaging 1.00
R7303:Myh7b UTSW 2 155,460,660 (GRCm39) missense probably damaging 1.00
R7360:Myh7b UTSW 2 155,474,460 (GRCm39) missense probably benign 0.38
R7678:Myh7b UTSW 2 155,459,698 (GRCm39) splice site probably null
R7703:Myh7b UTSW 2 155,462,356 (GRCm39) missense probably null 1.00
R7711:Myh7b UTSW 2 155,462,323 (GRCm39) missense probably damaging 1.00
R7923:Myh7b UTSW 2 155,467,886 (GRCm39) missense probably benign
R7967:Myh7b UTSW 2 155,456,119 (GRCm39) splice site probably null
R8045:Myh7b UTSW 2 155,455,101 (GRCm39) missense probably benign 0.00
R8176:Myh7b UTSW 2 155,467,886 (GRCm39) missense probably benign 0.06
R8272:Myh7b UTSW 2 155,474,824 (GRCm39) missense probably damaging 1.00
R8560:Myh7b UTSW 2 155,465,124 (GRCm39) missense possibly damaging 0.93
R8706:Myh7b UTSW 2 155,453,669 (GRCm39) critical splice donor site probably null
R8824:Myh7b UTSW 2 155,472,301 (GRCm39) missense probably benign 0.02
R8832:Myh7b UTSW 2 155,475,182 (GRCm39) missense probably benign 0.00
R9079:Myh7b UTSW 2 155,465,174 (GRCm39) missense probably damaging 0.97
R9151:Myh7b UTSW 2 155,474,439 (GRCm39) missense probably damaging 1.00
R9311:Myh7b UTSW 2 155,463,253 (GRCm39) missense probably damaging 1.00
R9332:Myh7b UTSW 2 155,470,722 (GRCm39) missense probably damaging 1.00
R9357:Myh7b UTSW 2 155,463,268 (GRCm39) missense probably damaging 1.00
R9388:Myh7b UTSW 2 155,472,983 (GRCm39) missense probably benign 0.28
R9583:Myh7b UTSW 2 155,459,641 (GRCm39) missense probably damaging 1.00
R9657:Myh7b UTSW 2 155,455,963 (GRCm39) missense probably damaging 1.00
R9738:Myh7b UTSW 2 155,455,963 (GRCm39) missense probably damaging 1.00
X0013:Myh7b UTSW 2 155,473,089 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTCTGTGGGTCCTTGAG -3'
(R):5'- AACATCTTTGGCGCATCCCC -3'

Sequencing Primer
(F):5'- TGGGTCCTTGAGCATGGCAC -3'
(R):5'- CAGTAGGTTGAGGCGCTC -3'
Posted On 2019-10-24