Incidental Mutation 'IGL02956:Myh7b'
ID365119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myh7b
Ensembl Gene ENSMUSG00000074652
Gene Namemyosin, heavy chain 7B, cardiac muscle, beta
SynonymsMyh14
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02956
Quality Score
Status
Chromosome2
Chromosomal Location155611212-155634307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 155625954 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 804 (M804K)
Ref Sequence ENSEMBL: ENSMUSP00000090672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092995]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092995
AA Change: M804K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: M804K

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 noncoding transcript
Transcript: ENSMUST00000102357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124415
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik A G 14: 12,287,326 N29S probably benign Het
5830473C10Rik A G 5: 90,579,638 I372V possibly damaging Het
Adamts13 C T 2: 26,983,037 A339V probably benign Het
Adck2 T C 6: 39,576,502 V349A probably benign Het
Akna G T 4: 63,386,279 T546K probably benign Het
Ankrd29 T C 18: 12,260,936 K274E probably damaging Het
Apc2 A T 10: 80,306,375 N376I probably damaging Het
Cadps A G 14: 12,418,047 probably benign Het
Cbl T C 9: 44,169,034 T243A probably damaging Het
Cfap52 T C 11: 67,954,075 E56G probably benign Het
Chd5 C A 4: 152,379,956 P1561Q probably benign Het
Dscam A G 16: 96,801,272 S657P probably damaging Het
Ece1 T C 4: 137,962,838 F732L probably damaging Het
Eno2 T C 6: 124,763,119 D199G probably damaging Het
Enpp3 A G 10: 24,774,943 probably benign Het
Fbxl15 G T 19: 46,329,251 C124F probably damaging Het
Fermt3 T C 19: 7,002,344 S474G probably benign Het
Fkbp6 T C 5: 135,339,496 E252G probably damaging Het
Gm6625 A T 8: 89,147,039 noncoding transcript Het
Gnl1 T C 17: 35,987,612 I416T probably benign Het
Gp1bb C A 16: 18,620,925 A140S probably benign Het
Grin2c A G 11: 115,257,959 V271A possibly damaging Het
Heatr1 T A 13: 12,416,059 S1012T possibly damaging Het
Ighv5-6 T A 12: 113,625,903 probably benign Het
Itga10 A G 3: 96,655,113 E737G possibly damaging Het
Lmod2 A C 6: 24,603,632 N202T probably damaging Het
Lrp1 C T 10: 127,544,559 V3908I probably benign Het
Lrrtm4 T C 6: 80,021,650 V15A probably benign Het
Mup4 A T 4: 59,959,263 D77E probably benign Het
Nup133 T C 8: 123,949,083 S32G probably benign Het
Olfr145 A G 9: 37,898,108 K235E probably damaging Het
Olfr159 T A 4: 43,770,399 N204I probably benign Het
Olfr648 T C 7: 104,180,127 I94V probably damaging Het
Olfr77 T C 9: 19,921,052 V281A possibly damaging Het
Polr2m T C 9: 71,483,629 D97G possibly damaging Het
Pou2f3 A G 9: 43,142,805 probably benign Het
Rex1bd C A 8: 70,505,902 V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 T261A possibly damaging Het
Satb2 A G 1: 56,948,175 F84L probably damaging Het
Sec14l1 G A 11: 117,153,147 D494N probably benign Het
Spn G A 7: 127,137,260 T25M probably damaging Het
Trp73 G A 4: 154,064,463 probably benign Het
Tsc22d2 A G 3: 58,417,546 T620A unknown Het
Zfp276 T C 8: 123,254,744 L10P probably damaging Het
Zfp93 T A 7: 24,274,975 N128K probably benign Het
Other mutations in Myh7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Myh7b APN 2 155630292 missense probably damaging 0.99
IGL01604:Myh7b APN 2 155632407 missense probably damaging 0.96
IGL02179:Myh7b APN 2 155614491 missense probably benign 0.02
IGL02729:Myh7b APN 2 155625689 missense probably damaging 1.00
IGL02804:Myh7b APN 2 155625723 missense probably damaging 1.00
IGL02851:Myh7b APN 2 155628827 missense probably damaging 1.00
IGL02956:Myh7b APN 2 155632903 missense probably damaging 1.00
IGL02992:Myh7b APN 2 155621410 missense probably damaging 0.99
IGL03060:Myh7b APN 2 155632751 missense probably damaging 1.00
IGL03061:Myh7b APN 2 155620111 missense possibly damaging 0.93
IGL03226:Myh7b APN 2 155620483 nonsense probably null
IGL03246:Myh7b APN 2 155617872 missense probably damaging 1.00
IGL03382:Myh7b APN 2 155623479 missense probably damaging 1.00
euclidian UTSW 2 155633399 missense probably benign 0.32
imaginary UTSW 2 155632255 missense probably benign 0.36
irrational UTSW 2 155630672 unclassified probably benign
muscoli UTSW 2 155620118 nonsense probably null
R0015:Myh7b UTSW 2 155622286 missense probably damaging 1.00
R0015:Myh7b UTSW 2 155622286 missense probably damaging 1.00
R0109:Myh7b UTSW 2 155611674 missense possibly damaging 0.92
R0309:Myh7b UTSW 2 155630672 unclassified probably benign
R0567:Myh7b UTSW 2 155626398 missense probably damaging 1.00
R0619:Myh7b UTSW 2 155611722 missense probably benign 0.00
R0927:Myh7b UTSW 2 155620120 missense probably damaging 1.00
R0973:Myh7b UTSW 2 155620427 missense probably benign
R0973:Myh7b UTSW 2 155620427 missense probably benign
R0974:Myh7b UTSW 2 155620427 missense probably benign
R1137:Myh7b UTSW 2 155622714 missense probably damaging 1.00
R1261:Myh7b UTSW 2 155621083 missense probably benign 0.00
R1268:Myh7b UTSW 2 155614046 nonsense probably null
R1537:Myh7b UTSW 2 155631787 missense probably damaging 0.96
R1632:Myh7b UTSW 2 155620525 missense probably benign 0.04
R1694:Myh7b UTSW 2 155613193 missense probably damaging 0.99
R1697:Myh7b UTSW 2 155620134 missense probably damaging 1.00
R1730:Myh7b UTSW 2 155625672 missense possibly damaging 0.73
R1762:Myh7b UTSW 2 155630858 missense probably damaging 0.96
R1783:Myh7b UTSW 2 155625672 missense possibly damaging 0.73
R2105:Myh7b UTSW 2 155629457 missense probably benign 0.00
R2140:Myh7b UTSW 2 155620123 missense probably damaging 1.00
R2971:Myh7b UTSW 2 155632255 missense probably benign 0.36
R3838:Myh7b UTSW 2 155632989 missense probably damaging 1.00
R4074:Myh7b UTSW 2 155618758 missense probably damaging 0.96
R4191:Myh7b UTSW 2 155633399 missense probably benign 0.32
R4689:Myh7b UTSW 2 155630514 missense possibly damaging 0.75
R4695:Myh7b UTSW 2 155614177 missense probably damaging 1.00
R4697:Myh7b UTSW 2 155629322 missense probably damaging 1.00
R4771:Myh7b UTSW 2 155626394 nonsense probably null
R4794:Myh7b UTSW 2 155623266 missense probably benign 0.00
R4842:Myh7b UTSW 2 155633989 missense probably benign 0.45
R4871:Myh7b UTSW 2 155613500 missense probably benign 0.18
R5022:Myh7b UTSW 2 155632373 missense possibly damaging 0.75
R5023:Myh7b UTSW 2 155632373 missense possibly damaging 0.75
R5025:Myh7b UTSW 2 155632373 missense possibly damaging 0.75
R5050:Myh7b UTSW 2 155631750 missense probably benign 0.00
R5055:Myh7b UTSW 2 155632373 missense possibly damaging 0.75
R5056:Myh7b UTSW 2 155632373 missense possibly damaging 0.75
R5161:Myh7b UTSW 2 155632373 missense possibly damaging 0.75
R5284:Myh7b UTSW 2 155632314 missense probably benign
R5422:Myh7b UTSW 2 155631034 missense probably damaging 0.99
R5505:Myh7b UTSW 2 155632672 missense probably benign 0.01
R5946:Myh7b UTSW 2 155621395 missense probably damaging 1.00
R6089:Myh7b UTSW 2 155622489 missense probably damaging 1.00
R6103:Myh7b UTSW 2 155618743 missense probably damaging 1.00
R6233:Myh7b UTSW 2 155631799 missense possibly damaging 0.85
R6292:Myh7b UTSW 2 155632396 missense probably damaging 1.00
R6350:Myh7b UTSW 2 155628760 missense probably benign 0.00
R6484:Myh7b UTSW 2 155628643 missense probably benign 0.05
R6760:Myh7b UTSW 2 155620118 nonsense probably null
R6896:Myh7b UTSW 2 155622568 critical splice donor site probably null
R6945:Myh7b UTSW 2 155622232 missense possibly damaging 0.95
R7020:Myh7b UTSW 2 155631751 missense possibly damaging 0.56
R7052:Myh7b UTSW 2 155614133 missense probably damaging 1.00
R7102:Myh7b UTSW 2 155622199 missense probably damaging 1.00
R7248:Myh7b UTSW 2 155622186 missense probably damaging 1.00
R7303:Myh7b UTSW 2 155618740 missense probably damaging 1.00
R7360:Myh7b UTSW 2 155632540 missense probably benign 0.38
X0013:Myh7b UTSW 2 155631169 missense probably damaging 1.00
Posted On2015-12-18