Incidental Mutation 'R9031:Myh8'
ID 687074
Institutional Source Beutler Lab
Gene Symbol Myh8
Ensembl Gene ENSMUSG00000055775
Gene Name myosin, heavy polypeptide 8, skeletal muscle, perinatal
Synonyms Myhsp, 4832426G23Rik, MyHC-pn, Myhs-p
MMRRC Submission 068860-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R9031 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 67277124-67308634 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67299315 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1260 (S1260R)
Ref Sequence ENSEMBL: ENSMUSP00000019625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019625]
AlphaFold P13542
Predicted Effect possibly damaging
Transcript: ENSMUST00000019625
AA Change: S1260R

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: S1260R

DomainStartEndE-ValueType
Pfam:Myosin_N 37 76 2.1e-13 PFAM
MYSc 82 782 N/A SMART
IQ 783 805 5.44e-3 SMART
Pfam:Myosin_tail_1 846 1927 2.4e-164 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer with two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. This gene is located in a cluster of related genes on chromosome 11. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,822,027 (GRCm38) R921H probably benign Het
Adcy5 A G 16: 35,299,489 (GRCm38) I1123V probably damaging Het
Agr2 G C 12: 35,995,566 (GRCm38) G17A probably benign Het
Akap6 A T 12: 53,142,048 (GRCm38) T2082S probably benign Het
Asxl3 G T 18: 22,524,344 (GRCm38) V1804F probably damaging Het
Atat1 A G 17: 35,909,489 (GRCm38) V37A probably benign Het
Atp1a3 A T 7: 24,989,787 (GRCm38) probably null Het
Bpifb1 A G 2: 154,209,928 (GRCm38) T218A probably benign Het
C030006K11Rik T A 15: 76,723,761 (GRCm38) Q19L probably benign Het
Ccdc138 T C 10: 58,545,071 (GRCm38) F508S probably damaging Het
Ccdc81 T A 7: 89,893,150 (GRCm38) M173L probably benign Het
Cdhr1 T C 14: 37,094,019 (GRCm38) I141V probably benign Het
Chia1 T C 3: 106,128,461 (GRCm38) F206L probably benign Het
Clca3a2 C T 3: 144,805,714 (GRCm38) G640E probably damaging Het
Clcn7 T C 17: 25,157,523 (GRCm38) V609A probably damaging Het
Cmklr2 T C 1: 63,183,986 (GRCm38) E30G probably benign Het
Col22a1 C A 15: 71,881,674 (GRCm38) G126* probably null Het
Cpne7 C T 8: 123,130,212 (GRCm38) P402L probably damaging Het
Ctcfl A T 2: 173,117,251 (GRCm38) D227E probably benign Het
Cwf19l2 A G 9: 3,417,942 (GRCm38) D134G probably benign Het
Cyp2c65 C A 19: 39,073,219 (GRCm38) C216* probably null Het
Cyp2d12 T A 15: 82,559,222 (GRCm38) C462S probably null Het
Cyp4a12a A C 4: 115,332,002 (GRCm38) *509Y probably null Het
Cyp4a12b A G 4: 115,433,668 (GRCm38) M298V probably benign Het
Dennd4b T C 3: 90,270,881 (GRCm38) V471A probably benign Het
Dlc1 A G 8: 36,937,901 (GRCm38) S245P possibly damaging Het
Dnah1 C T 14: 31,279,171 (GRCm38) G2406S probably benign Het
Dnah8 A G 17: 30,737,427 (GRCm38) K2127R probably damaging Het
Dusp13b G A 14: 21,740,165 (GRCm38) R38C probably benign Het
Ebf2 T A 14: 67,235,145 (GRCm38) I4N probably benign Het
Eef1ece2 C T 16: 20,640,625 (GRCm38) P570L probably damaging Het
Fcgbp A G 7: 28,091,483 (GRCm38) N723S possibly damaging Het
Galnt15 T A 14: 32,048,070 (GRCm38) V368E probably damaging Het
Garem2 A G 5: 30,108,264 (GRCm38) E42G possibly damaging Het
Gcc1 C T 6: 28,418,183 (GRCm38) S717N probably damaging Het
Gfm2 T C 13: 97,172,693 (GRCm38) probably null Het
Helb T C 10: 120,084,885 (GRCm38) D1051G possibly damaging Het
Helz2 T A 2: 181,232,468 (GRCm38) I2078F possibly damaging Het
Hsph1 A T 5: 149,629,805 (GRCm38) V297D probably damaging Het
Ifnar1 A G 16: 91,505,191 (GRCm38) Y518C probably benign Het
Kcnip2 T A 19: 45,794,771 (GRCm38) D153V probably damaging Het
Kif15 A T 9: 123,017,427 (GRCm38) probably benign Het
Kif21b T C 1: 136,145,304 (GRCm38) F147L probably damaging Het
Klhl29 T C 12: 5,090,537 (GRCm38) R702G probably damaging Het
Lemd3 C T 10: 120,931,973 (GRCm38) E667K possibly damaging Het
Loxl3 T C 6: 83,035,522 (GRCm38) L14P probably damaging Het
Lrrd1 A T 5: 3,850,963 (GRCm38) K423* probably null Het
Mia2 A G 12: 59,108,800 (GRCm38) D433G probably damaging Het
Mpp2 G T 11: 102,063,273 (GRCm38) A216E probably benign Het
Mro T C 18: 73,876,840 (GRCm38) probably null Het
Mybpc1 T G 10: 88,523,044 (GRCm38) Y1081S probably damaging Het
Myo3b T C 2: 70,251,750 (GRCm38) V618A probably damaging Het
Naip2 T G 13: 100,178,268 (GRCm38) D334A possibly damaging Het
Naip5 T A 13: 100,219,830 (GRCm38) E1092D probably benign Het
Nlrp4c T C 7: 6,104,609 (GRCm38) *983Q probably null Het
Nlrp9a T G 7: 26,558,273 (GRCm38) F439V probably damaging Het
Nploc4 A T 11: 120,428,542 (GRCm38) L64H probably damaging Het
Ola1 T C 2: 73,093,716 (GRCm38) E246G probably benign Het
Otof G A 5: 30,380,188 (GRCm38) S1259F probably benign Het
Pde4dip T C 3: 97,692,359 (GRCm38) T2438A probably damaging Het
Pex1 A G 5: 3,636,844 (GRCm38) T1242A probably damaging Het
Pink1 A T 4: 138,315,745 (GRCm38) probably benign Het
Prkcq A G 2: 11,247,008 (GRCm38) T219A probably damaging Het
Ptcd3 A T 6: 71,903,474 (GRCm38) Y88* probably null Het
Ptpru A G 4: 131,788,380 (GRCm38) Y888H probably damaging Het
Rapgef6 A G 11: 54,687,841 (GRCm38) N1063S probably benign Het
Slc1a4 G A 11: 20,332,532 (GRCm38) probably benign Het
Slc4a4 T C 5: 89,057,709 (GRCm38) probably benign Het
Slc6a18 A T 13: 73,671,703 (GRCm38) N249K possibly damaging Het
Slco2b1 T G 7: 99,689,007 (GRCm38) I104L probably damaging Het
Syne3 A T 12: 104,939,612 (GRCm38) S897R probably benign Het
Tlcd5 C T 9: 43,111,369 (GRCm38) R230Q probably benign Het
Tnni3k A G 3: 155,038,509 (GRCm38) S69P probably damaging Het
Tnpo2 A G 8: 85,053,534 (GRCm38) K700E probably benign Het
Top3a T C 11: 60,745,869 (GRCm38) K657E probably damaging Het
Trgv4 C T 13: 19,184,999 (GRCm38) Q7* probably null Het
Trim6 T C 7: 104,225,952 (GRCm38) L132P probably damaging Het
Tshz1 T C 18: 84,014,862 (GRCm38) T474A probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 116,068,172 (GRCm38) probably benign Het
Vmn1r179 A T 7: 23,928,809 (GRCm38) I142L probably benign Het
Zbtb2 A T 10: 4,369,183 (GRCm38) F281Y probably damaging Het
Zfp318 T C 17: 46,412,507 (GRCm38) V1812A probably benign Het
Other mutations in Myh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Myh8 APN 11 67,283,818 (GRCm38) missense probably damaging 0.97
IGL01020:Myh8 APN 11 67,283,403 (GRCm38) missense probably damaging 0.99
IGL01348:Myh8 APN 11 67,297,780 (GRCm38) missense probably damaging 1.00
IGL01382:Myh8 APN 11 67,301,973 (GRCm38) missense probably damaging 1.00
IGL01454:Myh8 APN 11 67,283,596 (GRCm38) missense probably damaging 1.00
IGL01457:Myh8 APN 11 67,292,679 (GRCm38) missense probably benign 0.00
IGL01472:Myh8 APN 11 67,288,379 (GRCm38) splice site probably benign
IGL01473:Myh8 APN 11 67,301,825 (GRCm38) critical splice donor site probably null
IGL01613:Myh8 APN 11 67,301,710 (GRCm38) missense probably benign 0.11
IGL01763:Myh8 APN 11 67,286,419 (GRCm38) missense probably benign 0.01
IGL01828:Myh8 APN 11 67,303,826 (GRCm38) missense possibly damaging 0.82
IGL01862:Myh8 APN 11 67,289,694 (GRCm38) nonsense probably null
IGL01905:Myh8 APN 11 67,284,651 (GRCm38) missense possibly damaging 0.90
IGL02280:Myh8 APN 11 67,283,372 (GRCm38) unclassified probably benign
IGL02386:Myh8 APN 11 67,294,440 (GRCm38) missense probably damaging 0.99
IGL02449:Myh8 APN 11 67,294,614 (GRCm38) critical splice donor site probably null
IGL02500:Myh8 APN 11 67,305,710 (GRCm38) missense probably benign 0.00
IGL02745:Myh8 APN 11 67,297,501 (GRCm38) missense possibly damaging 0.88
IGL02799:Myh8 APN 11 67,301,592 (GRCm38) splice site probably benign
IGL03063:Myh8 APN 11 67,288,205 (GRCm38) missense probably benign 0.00
IGL03223:Myh8 APN 11 67,283,818 (GRCm38) missense probably damaging 0.97
IGL03336:Myh8 APN 11 67,284,702 (GRCm38) missense probably damaging 1.00
IGL03338:Myh8 APN 11 67,298,346 (GRCm38) missense probably damaging 1.00
IGL03351:Myh8 APN 11 67,303,913 (GRCm38) missense possibly damaging 0.94
IGL03392:Myh8 APN 11 67,294,418 (GRCm38) missense probably damaging 1.00
BB003:Myh8 UTSW 11 67,278,906 (GRCm38) missense possibly damaging 0.94
BB009:Myh8 UTSW 11 67,294,604 (GRCm38) missense probably benign 0.00
BB013:Myh8 UTSW 11 67,278,906 (GRCm38) missense possibly damaging 0.94
BB019:Myh8 UTSW 11 67,294,604 (GRCm38) missense probably benign 0.00
PIT4354001:Myh8 UTSW 11 67,289,630 (GRCm38) missense probably benign 0.01
R0012:Myh8 UTSW 11 67,300,021 (GRCm38) missense probably benign 0.02
R0016:Myh8 UTSW 11 67,298,525 (GRCm38) missense probably damaging 1.00
R0016:Myh8 UTSW 11 67,298,525 (GRCm38) missense probably damaging 1.00
R0115:Myh8 UTSW 11 67,306,264 (GRCm38) splice site probably benign
R0131:Myh8 UTSW 11 67,292,188 (GRCm38) missense probably damaging 0.96
R0131:Myh8 UTSW 11 67,292,188 (GRCm38) missense probably damaging 0.96
R0132:Myh8 UTSW 11 67,292,188 (GRCm38) missense probably damaging 0.96
R0238:Myh8 UTSW 11 67,301,692 (GRCm38) missense probably benign 0.00
R0238:Myh8 UTSW 11 67,301,692 (GRCm38) missense probably benign 0.00
R0239:Myh8 UTSW 11 67,301,692 (GRCm38) missense probably benign 0.00
R0239:Myh8 UTSW 11 67,301,692 (GRCm38) missense probably benign 0.00
R0393:Myh8 UTSW 11 67,306,017 (GRCm38) splice site probably benign
R0453:Myh8 UTSW 11 67,292,905 (GRCm38) missense probably benign 0.03
R0454:Myh8 UTSW 11 67,303,765 (GRCm38) nonsense probably null
R0466:Myh8 UTSW 11 67,298,579 (GRCm38) missense probably benign 0.01
R0487:Myh8 UTSW 11 67,302,011 (GRCm38) missense probably benign
R0511:Myh8 UTSW 11 67,284,507 (GRCm38) missense probably benign 0.01
R0557:Myh8 UTSW 11 67,301,798 (GRCm38) missense possibly damaging 0.88
R0589:Myh8 UTSW 11 67,298,627 (GRCm38) missense probably benign 0.00
R0658:Myh8 UTSW 11 67,284,532 (GRCm38) critical splice donor site probably null
R0782:Myh8 UTSW 11 67,289,754 (GRCm38) missense probably benign 0.16
R0829:Myh8 UTSW 11 67,283,500 (GRCm38) unclassified probably benign
R0845:Myh8 UTSW 11 67,286,264 (GRCm38) missense probably damaging 1.00
R0930:Myh8 UTSW 11 67,305,998 (GRCm38) missense possibly damaging 0.93
R0972:Myh8 UTSW 11 67,297,759 (GRCm38) missense probably damaging 1.00
R1132:Myh8 UTSW 11 67,297,131 (GRCm38) nonsense probably null
R1417:Myh8 UTSW 11 67,306,185 (GRCm38) missense probably damaging 1.00
R1478:Myh8 UTSW 11 67,292,725 (GRCm38) missense probably benign 0.23
R1497:Myh8 UTSW 11 67,289,812 (GRCm38) missense probably benign 0.00
R1605:Myh8 UTSW 11 67,301,671 (GRCm38) missense probably damaging 0.99
R1701:Myh8 UTSW 11 67,280,138 (GRCm38) missense probably damaging 1.00
R1950:Myh8 UTSW 11 67,279,004 (GRCm38) missense possibly damaging 0.75
R1989:Myh8 UTSW 11 67,292,724 (GRCm38) missense probably benign 0.00
R2010:Myh8 UTSW 11 67,297,164 (GRCm38) nonsense probably null
R2095:Myh8 UTSW 11 67,286,224 (GRCm38) missense probably benign 0.00
R2132:Myh8 UTSW 11 67,292,876 (GRCm38) missense probably damaging 1.00
R2152:Myh8 UTSW 11 67,294,469 (GRCm38) missense probably damaging 0.97
R2229:Myh8 UTSW 11 67,308,348 (GRCm38) missense probably damaging 0.98
R2302:Myh8 UTSW 11 67,286,239 (GRCm38) missense probably damaging 1.00
R2364:Myh8 UTSW 11 67,294,518 (GRCm38) missense probably benign 0.03
R2429:Myh8 UTSW 11 67,303,897 (GRCm38) missense probably benign 0.21
R2880:Myh8 UTSW 11 67,297,264 (GRCm38) missense probably damaging 0.97
R3692:Myh8 UTSW 11 67,301,918 (GRCm38) missense probably damaging 0.98
R3756:Myh8 UTSW 11 67,284,617 (GRCm38) unclassified probably benign
R3924:Myh8 UTSW 11 67,297,137 (GRCm38) missense probably damaging 0.99
R4172:Myh8 UTSW 11 67,292,421 (GRCm38) missense probably damaging 1.00
R4255:Myh8 UTSW 11 67,299,734 (GRCm38) missense probably benign
R4621:Myh8 UTSW 11 67,286,258 (GRCm38) missense probably damaging 1.00
R4623:Myh8 UTSW 11 67,286,258 (GRCm38) missense probably damaging 1.00
R4790:Myh8 UTSW 11 67,279,963 (GRCm38) missense probably damaging 0.99
R4914:Myh8 UTSW 11 67,292,684 (GRCm38) missense probably damaging 1.00
R5074:Myh8 UTSW 11 67,305,916 (GRCm38) missense possibly damaging 0.79
R5119:Myh8 UTSW 11 67,298,358 (GRCm38) missense probably damaging 1.00
R5159:Myh8 UTSW 11 67,288,353 (GRCm38) missense probably damaging 0.99
R5229:Myh8 UTSW 11 67,284,484 (GRCm38) missense probably damaging 0.96
R5320:Myh8 UTSW 11 67,286,263 (GRCm38) missense probably damaging 1.00
R5455:Myh8 UTSW 11 67,301,418 (GRCm38) missense possibly damaging 0.59
R5523:Myh8 UTSW 11 67,305,962 (GRCm38) missense possibly damaging 0.95
R5540:Myh8 UTSW 11 67,286,440 (GRCm38) missense probably benign 0.00
R5726:Myh8 UTSW 11 67,294,566 (GRCm38) missense possibly damaging 0.79
R5770:Myh8 UTSW 11 67,297,200 (GRCm38) missense probably damaging 1.00
R6135:Myh8 UTSW 11 67,297,500 (GRCm38) missense possibly damaging 0.51
R6253:Myh8 UTSW 11 67,301,967 (GRCm38) missense probably benign 0.06
R6318:Myh8 UTSW 11 67,299,341 (GRCm38) missense probably benign 0.00
R6432:Myh8 UTSW 11 67,298,579 (GRCm38) missense probably benign 0.01
R6452:Myh8 UTSW 11 67,305,739 (GRCm38) missense possibly damaging 0.88
R6452:Myh8 UTSW 11 67,292,449 (GRCm38) missense probably benign 0.27
R6512:Myh8 UTSW 11 67,289,662 (GRCm38) nonsense probably null
R6714:Myh8 UTSW 11 67,306,949 (GRCm38) missense probably damaging 1.00
R6842:Myh8 UTSW 11 67,284,655 (GRCm38) missense probably damaging 1.00
R7007:Myh8 UTSW 11 67,288,316 (GRCm38) missense probably benign 0.03
R7025:Myh8 UTSW 11 67,297,539 (GRCm38) missense probably benign 0.02
R7086:Myh8 UTSW 11 67,292,627 (GRCm38) splice site probably null
R7098:Myh8 UTSW 11 67,279,053 (GRCm38) missense probably benign 0.03
R7498:Myh8 UTSW 11 67,283,437 (GRCm38) missense possibly damaging 0.80
R7716:Myh8 UTSW 11 67,298,652 (GRCm38) missense possibly damaging 0.51
R7765:Myh8 UTSW 11 67,303,655 (GRCm38) missense probably benign 0.44
R7825:Myh8 UTSW 11 67,303,712 (GRCm38) missense possibly damaging 0.94
R7921:Myh8 UTSW 11 67,283,818 (GRCm38) missense probably damaging 0.97
R7926:Myh8 UTSW 11 67,278,906 (GRCm38) missense possibly damaging 0.94
R7932:Myh8 UTSW 11 67,294,604 (GRCm38) missense probably benign 0.00
R8003:Myh8 UTSW 11 67,299,760 (GRCm38) missense probably damaging 1.00
R8028:Myh8 UTSW 11 67,303,676 (GRCm38) missense possibly damaging 0.65
R8121:Myh8 UTSW 11 67,289,821 (GRCm38) missense probably benign 0.00
R8125:Myh8 UTSW 11 67,299,772 (GRCm38) missense possibly damaging 0.94
R8170:Myh8 UTSW 11 67,288,266 (GRCm38) missense probably benign 0.30
R8277:Myh8 UTSW 11 67,292,909 (GRCm38) missense probably benign 0.10
R8304:Myh8 UTSW 11 67,304,336 (GRCm38) missense possibly damaging 0.72
R8431:Myh8 UTSW 11 67,283,614 (GRCm38) missense possibly damaging 0.94
R8535:Myh8 UTSW 11 67,278,915 (GRCm38) missense probably damaging 1.00
R8795:Myh8 UTSW 11 67,283,377 (GRCm38) critical splice acceptor site probably benign
R8858:Myh8 UTSW 11 67,301,994 (GRCm38) missense possibly damaging 0.67
R8927:Myh8 UTSW 11 67,283,255 (GRCm38) missense probably benign 0.10
R8928:Myh8 UTSW 11 67,283,255 (GRCm38) missense probably benign 0.10
R9172:Myh8 UTSW 11 67,292,434 (GRCm38) missense possibly damaging 0.82
R9252:Myh8 UTSW 11 67,286,476 (GRCm38) missense probably damaging 1.00
R9365:Myh8 UTSW 11 67,283,806 (GRCm38) missense probably benign 0.42
R9468:Myh8 UTSW 11 67,306,904 (GRCm38) missense probably damaging 1.00
R9564:Myh8 UTSW 11 67,286,389 (GRCm38) missense probably benign 0.40
R9565:Myh8 UTSW 11 67,286,389 (GRCm38) missense probably benign 0.40
T0722:Myh8 UTSW 11 67,304,436 (GRCm38) missense probably benign 0.41
Z1088:Myh8 UTSW 11 67,298,592 (GRCm38) missense probably damaging 1.00
Z1176:Myh8 UTSW 11 67,303,674 (GRCm38) missense probably damaging 1.00
Z1177:Myh8 UTSW 11 67,308,355 (GRCm38) missense possibly damaging 0.64
Z1177:Myh8 UTSW 11 67,301,424 (GRCm38) missense probably damaging 0.99
Z1187:Myh8 UTSW 11 67,297,486 (GRCm38) missense probably benign
Z1188:Myh8 UTSW 11 67,297,486 (GRCm38) missense probably benign
Z1190:Myh8 UTSW 11 67,297,486 (GRCm38) missense probably benign
Z1191:Myh8 UTSW 11 67,297,486 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCAAACACCAACTTTCTG -3'
(R):5'- CCTGACTTCCCTATTTGATGAGAG -3'

Sequencing Primer
(F):5'- AACACCAACTTTCTGCTTAATATCTC -3'
(R):5'- CCCTATTTGATGAGAGTATTACGGC -3'
Posted On 2021-11-19