Incidental Mutation 'R1989:Myh8'
ID 223061
Institutional Source Beutler Lab
Gene Symbol Myh8
Ensembl Gene ENSMUSG00000055775
Gene Name myosin, heavy polypeptide 8, skeletal muscle, perinatal
Synonyms Myhsp, MyHC-pn, Myhs-p, 4832426G23Rik
MMRRC Submission 040001-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R1989 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 67167950-67199460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67183550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 754 (I754V)
Ref Sequence ENSEMBL: ENSMUSP00000019625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019625]
AlphaFold P13542
Predicted Effect probably benign
Transcript: ENSMUST00000019625
AA Change: I754V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: I754V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139052
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,394 (GRCm39) D216V possibly damaging Het
Acaca T C 11: 84,153,355 (GRCm39) M921T probably damaging Het
Actn2 A T 13: 12,355,276 (GRCm39) W36R probably benign Het
Adcy9 A T 16: 4,116,591 (GRCm39) V643D probably damaging Het
Agbl4 A T 4: 111,423,879 (GRCm39) T302S possibly damaging Het
Akap13 A G 7: 75,354,264 (GRCm39) N1795S probably benign Het
Ang T A 14: 51,339,008 (GRCm39) C50S probably damaging Het
Anxa13 T A 15: 58,205,344 (GRCm39) noncoding transcript Het
Asxl3 T C 18: 22,585,420 (GRCm39) V115A probably damaging Het
B4galt5 A T 2: 167,146,923 (GRCm39) W304R probably damaging Het
Bptf T C 11: 106,965,652 (GRCm39) K1118E probably damaging Het
Cacna1b T C 2: 24,611,386 (GRCm39) Y335C probably damaging Het
Catsperb A T 12: 101,568,970 (GRCm39) I881F probably damaging Het
Ccn1 A T 3: 145,353,498 (GRCm39) Y355N probably benign Het
Chrm5 A G 2: 112,310,597 (GRCm39) V173A probably damaging Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Cyp2f2 A G 7: 26,828,628 (GRCm39) D90G probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
E2f8 T C 7: 48,523,028 (GRCm39) E349G probably benign Het
Ebf1 T C 11: 44,512,793 (GRCm39) M134T probably damaging Het
Fn1 T C 1: 71,690,784 (GRCm39) H59R probably damaging Het
Focad T C 4: 88,151,021 (GRCm39) probably null Het
Gabra1 A T 11: 42,045,842 (GRCm39) D89E probably damaging Het
Hip1r G T 5: 124,127,761 (GRCm39) V90F probably damaging Het
Ifi213 C A 1: 173,396,374 (GRCm39) probably null Het
Kcnj9 A G 1: 172,153,716 (GRCm39) I136T probably benign Het
Kmt2c A G 5: 25,703,542 (GRCm39) S3P possibly damaging Het
Lrrc4b GAGAAG GAG 7: 44,111,654 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,931,432 (GRCm39) S43L probably damaging Het
Macf1 A G 4: 123,391,519 (GRCm39) probably null Het
Mad1l1 A G 5: 140,289,425 (GRCm39) S167P probably benign Het
Maml3 G T 3: 51,605,179 (GRCm39) A64D probably damaging Het
Mgat4c T C 10: 102,214,020 (GRCm39) M1T probably null Het
Mkrn2os G T 6: 115,566,311 (GRCm39) T88K probably damaging Het
Mob3c T C 4: 115,688,754 (GRCm39) Y96H probably damaging Het
Mpo T A 11: 87,694,298 (GRCm39) I96N probably damaging Het
Mup17 T A 4: 61,511,860 (GRCm39) Y138F probably benign Het
Naa30 T A 14: 49,415,597 (GRCm39) L289* probably null Het
Nap1l4 A C 7: 143,080,921 (GRCm39) F292V probably damaging Het
Nek5 T A 8: 22,601,185 (GRCm39) N129Y probably damaging Het
Nlrp9a A G 7: 26,273,338 (GRCm39) E880G probably benign Het
Nsun6 G T 2: 15,042,995 (GRCm39) N155K probably benign Het
Or2aj5 A T 16: 19,425,407 (GRCm39) Y4N probably benign Het
Or4c102 T A 2: 88,422,943 (GRCm39) I265K probably damaging Het
Or4f62 T A 2: 111,986,722 (GRCm39) I142N probably benign Het
Or52a33 A T 7: 103,288,702 (GRCm39) I215K probably damaging Het
Or52ad1 T A 7: 102,995,316 (GRCm39) Y273F possibly damaging Het
Or5p5 A T 7: 107,413,907 (GRCm39) I39L probably benign Het
Or8d23 T C 9: 38,842,171 (GRCm39) S235P possibly damaging Het
Palm3 G A 8: 84,756,651 (GRCm39) S721N possibly damaging Het
Ppp2r5d C T 17: 46,995,025 (GRCm39) V559M probably benign Het
Ptgfr A T 3: 151,540,976 (GRCm39) Y177* probably null Het
Rnase10 A T 14: 51,247,095 (GRCm39) I121L probably benign Het
Sall2 G A 14: 52,551,896 (GRCm39) P431L probably damaging Het
Sbf2 A G 7: 109,948,130 (GRCm39) V1194A possibly damaging Het
Scimp T C 11: 70,682,402 (GRCm39) K105E possibly damaging Het
Scrt2 A T 2: 151,924,007 (GRCm39) D13V probably damaging Het
Snx19 A G 9: 30,339,404 (GRCm39) S181G possibly damaging Het
Spata2 G A 2: 167,326,234 (GRCm39) T195M possibly damaging Het
Sptbn4 A G 7: 27,067,127 (GRCm39) V614A probably damaging Het
Srpk2 G A 5: 23,723,421 (GRCm39) A565V probably damaging Het
Stard9 A G 2: 120,531,887 (GRCm39) I2715V probably benign Het
Sval1 A G 6: 41,932,425 (GRCm39) T92A possibly damaging Het
Synrg T C 11: 83,910,781 (GRCm39) probably null Het
Tlr12 T C 4: 128,510,862 (GRCm39) T463A probably benign Het
Tnxb A G 17: 34,902,351 (GRCm39) H945R probably benign Het
Tnxb A T 17: 34,912,859 (GRCm39) D1791V probably damaging Het
Topaz1 C T 9: 122,579,190 (GRCm39) T700I possibly damaging Het
Trappc8 A G 18: 20,978,708 (GRCm39) V796A probably benign Het
Trpm1 A T 7: 63,858,780 (GRCm39) probably null Het
Ttll4 G T 1: 74,724,527 (GRCm39) V566L possibly damaging Het
Ttn T A 2: 76,581,285 (GRCm39) N23203Y probably damaging Het
Ttn A T 2: 76,601,131 (GRCm39) Y18781N probably damaging Het
Tuba3a T C 6: 125,258,216 (GRCm39) N258S probably damaging Het
Upk1b A T 16: 38,604,603 (GRCm39) W141R possibly damaging Het
Vars1 T C 17: 35,230,814 (GRCm39) F567L possibly damaging Het
Vcpip1 G C 1: 9,815,788 (GRCm39) A865G probably benign Het
Vmn2r22 A T 6: 123,614,500 (GRCm39) F363L probably damaging Het
Vmn2r66 A T 7: 84,661,201 (GRCm39) F10I probably benign Het
Wbp2 C T 11: 115,971,047 (GRCm39) probably null Het
Yy1 T C 12: 108,772,534 (GRCm39) L270P probably damaging Het
Zan A T 5: 137,418,268 (GRCm39) C2943* probably null Het
Zfp51 T A 17: 21,676,582 (GRCm39) Y18N possibly damaging Het
Other mutations in Myh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Myh8 APN 11 67,174,644 (GRCm39) missense probably damaging 0.97
IGL01020:Myh8 APN 11 67,174,229 (GRCm39) missense probably damaging 0.99
IGL01348:Myh8 APN 11 67,188,606 (GRCm39) missense probably damaging 1.00
IGL01382:Myh8 APN 11 67,192,799 (GRCm39) missense probably damaging 1.00
IGL01454:Myh8 APN 11 67,174,422 (GRCm39) missense probably damaging 1.00
IGL01457:Myh8 APN 11 67,183,505 (GRCm39) missense probably benign 0.00
IGL01472:Myh8 APN 11 67,179,205 (GRCm39) splice site probably benign
IGL01473:Myh8 APN 11 67,192,651 (GRCm39) critical splice donor site probably null
IGL01613:Myh8 APN 11 67,192,536 (GRCm39) missense probably benign 0.11
IGL01763:Myh8 APN 11 67,177,245 (GRCm39) missense probably benign 0.01
IGL01828:Myh8 APN 11 67,194,652 (GRCm39) missense possibly damaging 0.82
IGL01862:Myh8 APN 11 67,180,520 (GRCm39) nonsense probably null
IGL01905:Myh8 APN 11 67,175,477 (GRCm39) missense possibly damaging 0.90
IGL02280:Myh8 APN 11 67,174,198 (GRCm39) unclassified probably benign
IGL02386:Myh8 APN 11 67,185,266 (GRCm39) missense probably damaging 0.99
IGL02449:Myh8 APN 11 67,185,440 (GRCm39) critical splice donor site probably null
IGL02500:Myh8 APN 11 67,196,536 (GRCm39) missense probably benign 0.00
IGL02745:Myh8 APN 11 67,188,327 (GRCm39) missense possibly damaging 0.88
IGL02799:Myh8 APN 11 67,192,418 (GRCm39) splice site probably benign
IGL03063:Myh8 APN 11 67,179,031 (GRCm39) missense probably benign 0.00
IGL03223:Myh8 APN 11 67,174,644 (GRCm39) missense probably damaging 0.97
IGL03336:Myh8 APN 11 67,175,528 (GRCm39) missense probably damaging 1.00
IGL03338:Myh8 APN 11 67,189,172 (GRCm39) missense probably damaging 1.00
IGL03351:Myh8 APN 11 67,194,739 (GRCm39) missense possibly damaging 0.94
IGL03392:Myh8 APN 11 67,185,244 (GRCm39) missense probably damaging 1.00
BB003:Myh8 UTSW 11 67,169,732 (GRCm39) missense possibly damaging 0.94
BB009:Myh8 UTSW 11 67,185,430 (GRCm39) missense probably benign 0.00
BB013:Myh8 UTSW 11 67,169,732 (GRCm39) missense possibly damaging 0.94
BB019:Myh8 UTSW 11 67,185,430 (GRCm39) missense probably benign 0.00
PIT4354001:Myh8 UTSW 11 67,180,456 (GRCm39) missense probably benign 0.01
R0012:Myh8 UTSW 11 67,190,847 (GRCm39) missense probably benign 0.02
R0016:Myh8 UTSW 11 67,189,351 (GRCm39) missense probably damaging 1.00
R0016:Myh8 UTSW 11 67,189,351 (GRCm39) missense probably damaging 1.00
R0115:Myh8 UTSW 11 67,197,090 (GRCm39) splice site probably benign
R0131:Myh8 UTSW 11 67,183,014 (GRCm39) missense probably damaging 0.96
R0131:Myh8 UTSW 11 67,183,014 (GRCm39) missense probably damaging 0.96
R0132:Myh8 UTSW 11 67,183,014 (GRCm39) missense probably damaging 0.96
R0238:Myh8 UTSW 11 67,192,518 (GRCm39) missense probably benign 0.00
R0238:Myh8 UTSW 11 67,192,518 (GRCm39) missense probably benign 0.00
R0239:Myh8 UTSW 11 67,192,518 (GRCm39) missense probably benign 0.00
R0239:Myh8 UTSW 11 67,192,518 (GRCm39) missense probably benign 0.00
R0393:Myh8 UTSW 11 67,196,843 (GRCm39) splice site probably benign
R0453:Myh8 UTSW 11 67,183,731 (GRCm39) missense probably benign 0.03
R0454:Myh8 UTSW 11 67,194,591 (GRCm39) nonsense probably null
R0466:Myh8 UTSW 11 67,189,405 (GRCm39) missense probably benign 0.01
R0487:Myh8 UTSW 11 67,192,837 (GRCm39) missense probably benign
R0511:Myh8 UTSW 11 67,175,333 (GRCm39) missense probably benign 0.01
R0557:Myh8 UTSW 11 67,192,624 (GRCm39) missense possibly damaging 0.88
R0589:Myh8 UTSW 11 67,189,453 (GRCm39) missense probably benign 0.00
R0658:Myh8 UTSW 11 67,175,358 (GRCm39) critical splice donor site probably null
R0782:Myh8 UTSW 11 67,180,580 (GRCm39) missense probably benign 0.16
R0829:Myh8 UTSW 11 67,174,326 (GRCm39) unclassified probably benign
R0845:Myh8 UTSW 11 67,177,090 (GRCm39) missense probably damaging 1.00
R0930:Myh8 UTSW 11 67,196,824 (GRCm39) missense possibly damaging 0.93
R0972:Myh8 UTSW 11 67,188,585 (GRCm39) missense probably damaging 1.00
R1132:Myh8 UTSW 11 67,187,957 (GRCm39) nonsense probably null
R1417:Myh8 UTSW 11 67,197,011 (GRCm39) missense probably damaging 1.00
R1478:Myh8 UTSW 11 67,183,551 (GRCm39) missense probably benign 0.23
R1497:Myh8 UTSW 11 67,180,638 (GRCm39) missense probably benign 0.00
R1605:Myh8 UTSW 11 67,192,497 (GRCm39) missense probably damaging 0.99
R1701:Myh8 UTSW 11 67,170,964 (GRCm39) missense probably damaging 1.00
R1950:Myh8 UTSW 11 67,169,830 (GRCm39) missense possibly damaging 0.75
R2010:Myh8 UTSW 11 67,187,990 (GRCm39) nonsense probably null
R2095:Myh8 UTSW 11 67,177,050 (GRCm39) missense probably benign 0.00
R2132:Myh8 UTSW 11 67,183,702 (GRCm39) missense probably damaging 1.00
R2152:Myh8 UTSW 11 67,185,295 (GRCm39) missense probably damaging 0.97
R2229:Myh8 UTSW 11 67,199,174 (GRCm39) missense probably damaging 0.98
R2302:Myh8 UTSW 11 67,177,065 (GRCm39) missense probably damaging 1.00
R2364:Myh8 UTSW 11 67,185,344 (GRCm39) missense probably benign 0.03
R2429:Myh8 UTSW 11 67,194,723 (GRCm39) missense probably benign 0.21
R2880:Myh8 UTSW 11 67,188,090 (GRCm39) missense probably damaging 0.97
R3692:Myh8 UTSW 11 67,192,744 (GRCm39) missense probably damaging 0.98
R3756:Myh8 UTSW 11 67,175,443 (GRCm39) unclassified probably benign
R3924:Myh8 UTSW 11 67,187,963 (GRCm39) missense probably damaging 0.99
R4172:Myh8 UTSW 11 67,183,247 (GRCm39) missense probably damaging 1.00
R4255:Myh8 UTSW 11 67,190,560 (GRCm39) missense probably benign
R4621:Myh8 UTSW 11 67,177,084 (GRCm39) missense probably damaging 1.00
R4623:Myh8 UTSW 11 67,177,084 (GRCm39) missense probably damaging 1.00
R4790:Myh8 UTSW 11 67,170,789 (GRCm39) missense probably damaging 0.99
R4914:Myh8 UTSW 11 67,183,510 (GRCm39) missense probably damaging 1.00
R5074:Myh8 UTSW 11 67,196,742 (GRCm39) missense possibly damaging 0.79
R5119:Myh8 UTSW 11 67,189,184 (GRCm39) missense probably damaging 1.00
R5159:Myh8 UTSW 11 67,179,179 (GRCm39) missense probably damaging 0.99
R5229:Myh8 UTSW 11 67,175,310 (GRCm39) missense probably damaging 0.96
R5320:Myh8 UTSW 11 67,177,089 (GRCm39) missense probably damaging 1.00
R5455:Myh8 UTSW 11 67,192,244 (GRCm39) missense possibly damaging 0.59
R5523:Myh8 UTSW 11 67,196,788 (GRCm39) missense possibly damaging 0.95
R5540:Myh8 UTSW 11 67,177,266 (GRCm39) missense probably benign 0.00
R5726:Myh8 UTSW 11 67,185,392 (GRCm39) missense possibly damaging 0.79
R5770:Myh8 UTSW 11 67,188,026 (GRCm39) missense probably damaging 1.00
R6135:Myh8 UTSW 11 67,188,326 (GRCm39) missense possibly damaging 0.51
R6253:Myh8 UTSW 11 67,192,793 (GRCm39) missense probably benign 0.06
R6318:Myh8 UTSW 11 67,190,167 (GRCm39) missense probably benign 0.00
R6432:Myh8 UTSW 11 67,189,405 (GRCm39) missense probably benign 0.01
R6452:Myh8 UTSW 11 67,196,565 (GRCm39) missense possibly damaging 0.88
R6452:Myh8 UTSW 11 67,183,275 (GRCm39) missense probably benign 0.27
R6512:Myh8 UTSW 11 67,180,488 (GRCm39) nonsense probably null
R6714:Myh8 UTSW 11 67,197,775 (GRCm39) missense probably damaging 1.00
R6842:Myh8 UTSW 11 67,175,481 (GRCm39) missense probably damaging 1.00
R7007:Myh8 UTSW 11 67,179,142 (GRCm39) missense probably benign 0.03
R7025:Myh8 UTSW 11 67,188,365 (GRCm39) missense probably benign 0.02
R7086:Myh8 UTSW 11 67,183,453 (GRCm39) splice site probably null
R7098:Myh8 UTSW 11 67,169,879 (GRCm39) missense probably benign 0.03
R7498:Myh8 UTSW 11 67,174,263 (GRCm39) missense possibly damaging 0.80
R7716:Myh8 UTSW 11 67,189,478 (GRCm39) missense possibly damaging 0.51
R7765:Myh8 UTSW 11 67,194,481 (GRCm39) missense probably benign 0.44
R7825:Myh8 UTSW 11 67,194,538 (GRCm39) missense possibly damaging 0.94
R7921:Myh8 UTSW 11 67,174,644 (GRCm39) missense probably damaging 0.97
R7926:Myh8 UTSW 11 67,169,732 (GRCm39) missense possibly damaging 0.94
R7932:Myh8 UTSW 11 67,185,430 (GRCm39) missense probably benign 0.00
R8003:Myh8 UTSW 11 67,190,586 (GRCm39) missense probably damaging 1.00
R8028:Myh8 UTSW 11 67,194,502 (GRCm39) missense possibly damaging 0.65
R8121:Myh8 UTSW 11 67,180,647 (GRCm39) missense probably benign 0.00
R8125:Myh8 UTSW 11 67,190,598 (GRCm39) missense possibly damaging 0.94
R8170:Myh8 UTSW 11 67,179,092 (GRCm39) missense probably benign 0.30
R8277:Myh8 UTSW 11 67,183,735 (GRCm39) missense probably benign 0.10
R8304:Myh8 UTSW 11 67,195,162 (GRCm39) missense possibly damaging 0.72
R8431:Myh8 UTSW 11 67,174,440 (GRCm39) missense possibly damaging 0.94
R8535:Myh8 UTSW 11 67,169,741 (GRCm39) missense probably damaging 1.00
R8795:Myh8 UTSW 11 67,174,203 (GRCm39) critical splice acceptor site probably benign
R8858:Myh8 UTSW 11 67,192,820 (GRCm39) missense possibly damaging 0.67
R8927:Myh8 UTSW 11 67,174,081 (GRCm39) missense probably benign 0.10
R8928:Myh8 UTSW 11 67,174,081 (GRCm39) missense probably benign 0.10
R9031:Myh8 UTSW 11 67,190,141 (GRCm39) missense possibly damaging 0.49
R9172:Myh8 UTSW 11 67,183,260 (GRCm39) missense possibly damaging 0.82
R9252:Myh8 UTSW 11 67,177,302 (GRCm39) missense probably damaging 1.00
R9365:Myh8 UTSW 11 67,174,632 (GRCm39) missense probably benign 0.42
R9468:Myh8 UTSW 11 67,197,730 (GRCm39) missense probably damaging 1.00
R9564:Myh8 UTSW 11 67,177,215 (GRCm39) missense probably benign 0.40
R9565:Myh8 UTSW 11 67,177,215 (GRCm39) missense probably benign 0.40
T0722:Myh8 UTSW 11 67,195,262 (GRCm39) missense probably benign 0.41
Z1088:Myh8 UTSW 11 67,189,418 (GRCm39) missense probably damaging 1.00
Z1176:Myh8 UTSW 11 67,194,500 (GRCm39) missense probably damaging 1.00
Z1177:Myh8 UTSW 11 67,199,181 (GRCm39) missense possibly damaging 0.64
Z1177:Myh8 UTSW 11 67,192,250 (GRCm39) missense probably damaging 0.99
Z1187:Myh8 UTSW 11 67,188,312 (GRCm39) missense probably benign
Z1188:Myh8 UTSW 11 67,188,312 (GRCm39) missense probably benign
Z1190:Myh8 UTSW 11 67,188,312 (GRCm39) missense probably benign
Z1191:Myh8 UTSW 11 67,188,312 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCAGTCCTCTTTGCCGAATAG -3'
(R):5'- ATCTGGGCCAGCTTTTCATC -3'

Sequencing Primer
(F):5'- CCTCTTTGCCGAATAGCATTAAATG -3'
(R):5'- CTCTCATTTCTTCCAGGAGACCCAG -3'
Posted On 2014-08-25