Incidental Mutation 'R1537:Myh7b'
ID 169576
Institutional Source Beutler Lab
Gene Symbol Myh7b
Ensembl Gene ENSMUSG00000074652
Gene Name myosin, heavy chain 7B, cardiac muscle, beta
Synonyms Myh14
MMRRC Submission 039576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1537 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 155453132-155476227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 155473707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 1580 (D1580A)
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: D1580A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: D1580A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154656
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,124 (GRCm39) H86L possibly damaging Het
4930519G04Rik A G 5: 115,008,278 (GRCm39) T31A probably benign Het
Ahcyl1 A G 3: 107,603,505 (GRCm39) F30S probably benign Het
Alox5ap G A 5: 149,201,993 (GRCm39) probably null Het
Amtn A G 5: 88,526,729 (GRCm39) S53G probably null Het
Arap3 A T 18: 38,122,737 (GRCm39) probably null Het
Ash1l T A 3: 88,979,783 (GRCm39) V2769E probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bhlha9 C T 11: 76,563,457 (GRCm39) S28L probably benign Het
Bltp2 T A 11: 78,180,169 (GRCm39) Y2150N probably damaging Het
Bmpr2 A G 1: 59,907,285 (GRCm39) T793A probably benign Het
Ccdc80 G A 16: 44,916,299 (GRCm39) A352T probably benign Het
Chst2 A T 9: 95,288,194 (GRCm39) F51I probably benign Het
Col14a1 A G 15: 55,244,163 (GRCm39) N412S unknown Het
Dclk2 T C 3: 86,713,491 (GRCm39) I451V probably damaging Het
Ddb2 A G 2: 91,065,234 (GRCm39) S64P probably benign Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnai3 T C 3: 145,748,504 (GRCm39) E870G probably damaging Het
Dusp4 G T 8: 35,285,570 (GRCm39) R277L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Garem1 A T 18: 21,301,931 (GRCm39) probably null Het
Gnpat A G 8: 125,597,555 (GRCm39) E39G probably damaging Het
Golgb1 A T 16: 36,719,150 (GRCm39) Q352L possibly damaging Het
Hdlbp T C 1: 93,345,096 (GRCm39) D803G probably benign Het
Hps1 A G 19: 42,748,143 (GRCm39) probably null Het
Ilvbl G A 10: 78,415,565 (GRCm39) R327H probably benign Het
Itpr3 A G 17: 27,333,121 (GRCm39) D1911G possibly damaging Het
Lmo7 T A 14: 102,166,700 (GRCm39) probably benign Het
Mcm10 G A 2: 5,003,591 (GRCm39) T542I possibly damaging Het
Med1 A G 11: 98,051,772 (GRCm39) V497A probably damaging Het
Mn1 G A 5: 111,602,646 (GRCm39) A1295T probably damaging Het
Naa20 A G 2: 145,754,438 (GRCm39) I101V probably benign Het
Nav3 T C 10: 109,702,846 (GRCm39) Y229C probably damaging Het
Obscn T C 11: 58,891,575 (GRCm39) R6986G unknown Het
Or51h7 G A 7: 102,591,547 (GRCm39) T79I probably damaging Het
Or8b4 A G 9: 37,830,570 (GRCm39) I211V probably benign Het
P2rx3 A G 2: 84,853,825 (GRCm39) probably null Het
Pcdhac2 G A 18: 37,279,539 (GRCm39) G840R possibly damaging Het
Pclo A G 5: 14,762,489 (GRCm39) N3654S unknown Het
Pcnx2 T A 8: 126,604,188 (GRCm39) E689D possibly damaging Het
Pds5a A G 5: 65,804,464 (GRCm39) S532P probably benign Het
Phf1 G A 17: 27,154,372 (GRCm39) probably null Het
Pkp4 G A 2: 59,045,147 (GRCm39) V41M probably damaging Het
Prlr T G 15: 10,328,364 (GRCm39) probably null Het
Prr12 G T 7: 44,678,366 (GRCm39) A1954D unknown Het
Prtg A G 9: 72,717,039 (GRCm39) T127A probably benign Het
Ptprh A G 7: 4,552,698 (GRCm39) L884P probably damaging Het
Rnf170 T A 8: 26,629,076 (GRCm39) D183E probably benign Het
Rrp12 A T 19: 41,875,242 (GRCm39) H339Q probably damaging Het
Rubcnl T G 14: 75,278,267 (GRCm39) S350R possibly damaging Het
Sgo2b T A 8: 64,379,536 (GRCm39) T1099S possibly damaging Het
Ska2 T C 11: 87,006,945 (GRCm39) S17P probably damaging Het
Slc38a2 A G 15: 96,591,034 (GRCm39) I243T possibly damaging Het
Sptan1 T A 2: 29,916,034 (GRCm39) D2007E possibly damaging Het
Taar5 T A 10: 23,846,620 (GRCm39) L6H probably benign Het
Tbata G T 10: 61,019,270 (GRCm39) probably null Het
Tent2 C T 13: 93,312,076 (GRCm39) G208D probably damaging Het
Tmem107 T C 11: 68,963,284 (GRCm39) S98P probably damaging Het
Tpst2 A G 5: 112,456,286 (GRCm39) D275G possibly damaging Het
Ttc28 G T 5: 111,433,184 (GRCm39) G2073W probably damaging Het
Ttc7 T C 17: 87,629,891 (GRCm39) V291A possibly damaging Het
Vps13b T A 15: 35,792,327 (GRCm39) N2198K possibly damaging Het
Wdr37 A T 13: 8,887,039 (GRCm39) D249E probably benign Het
Xirp2 G T 2: 67,340,357 (GRCm39) C866F probably damaging Het
Zfp990 A G 4: 145,263,566 (GRCm39) E188G possibly damaging Het
Zkscan2 A G 7: 123,099,064 (GRCm39) S43P possibly damaging Het
Zscan5b A G 7: 6,236,850 (GRCm39) R200G probably benign 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
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
R7652:Myh7b UTSW 2 155,474,156 (GRCm39) missense probably damaging 0.99
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'- AAGAGTGAGCTGCAAGCTGCACTG -3'
(R):5'- TCAAGGACCCACAGACTTGGGAAC -3'

Sequencing Primer
(F):5'- TGCACTGGAGGAGGCTG -3'
(R):5'- AAGACTGCTTTCCAGAGACC -3'
Posted On 2014-04-13