Incidental Mutation 'R0453:Myh8'
ID 39795
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 038653-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R0453 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 67167950-67199460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67183731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 787 (I787F)
Ref Sequence ENSEMBL: ENSMUSP00000019625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019625]
AlphaFold P13542
Predicted Effect probably benign
Transcript: ENSMUST00000019625
AA Change: I787F

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: I787F

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
Meta Mutation Damage Score 0.0920 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,765,445 (GRCm39) K843* probably null Het
Adam26b T C 8: 43,973,387 (GRCm39) I538M probably benign Het
Adamtsl1 T C 4: 86,150,852 (GRCm39) Y337H probably damaging Het
Ak7 T C 12: 105,682,307 (GRCm39) M156T probably damaging Het
Aldh3a1 A G 11: 61,106,338 (GRCm39) M238V probably benign Het
Asic4 T A 1: 75,450,155 (GRCm39) probably benign Het
AW551984 A G 9: 39,511,937 (GRCm39) S25P probably damaging Het
Bbs7 T A 3: 36,661,818 (GRCm39) Y127F possibly damaging Het
Bco1 G A 8: 117,835,516 (GRCm39) E156K possibly damaging Het
Becn1 T C 11: 101,181,275 (GRCm39) D342G probably damaging Het
Birc6 T A 17: 74,956,749 (GRCm39) I3575N probably damaging Het
Brd10 T C 19: 29,731,068 (GRCm39) Y715C probably damaging Het
Cc2d2a A T 5: 43,860,636 (GRCm39) M522L probably benign Het
Cerkl A G 2: 79,172,795 (GRCm39) F293L probably benign Het
Chil3 T G 3: 106,056,221 (GRCm39) N311T probably benign Het
Cpeb2 T A 5: 43,443,056 (GRCm39) probably benign Het
Cpxm2 A G 7: 131,730,134 (GRCm39) S162P probably damaging Het
Cracr2b A C 7: 141,044,176 (GRCm39) E136A probably damaging Het
Cyp2a4 T A 7: 26,012,258 (GRCm39) M347K probably benign Het
Dicer1 C A 12: 104,668,889 (GRCm39) R1264S probably benign Het
Dlgap1 T A 17: 71,068,341 (GRCm39) N609K probably benign Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egfl8 T C 17: 34,833,856 (GRCm39) Y74C probably damaging Het
Esyt1 A G 10: 128,348,078 (GRCm39) S901P probably benign Het
Fam83e A T 7: 45,373,372 (GRCm39) D246V probably damaging Het
Galnt2 T C 8: 125,065,323 (GRCm39) probably benign Het
Hdc A G 2: 126,436,871 (GRCm39) probably benign Het
Herc1 A C 9: 66,307,054 (GRCm39) Q958P probably benign Het
Iqcg T A 16: 32,870,213 (GRCm39) probably benign Het
Iqub A T 6: 24,450,829 (GRCm39) F590Y probably damaging Het
Jak2 T C 19: 29,289,238 (GRCm39) I1130T probably benign Het
Kbtbd11 G A 8: 15,077,499 (GRCm39) A33T probably benign Het
Kcnip4 A G 5: 48,667,054 (GRCm39) L37P probably damaging Het
Klk6 A G 7: 43,477,963 (GRCm39) N112D probably damaging Het
Kmt2c G A 5: 25,559,745 (GRCm39) T1011I probably damaging Het
Knl1 A T 2: 118,898,869 (GRCm39) K190M probably damaging Het
Lama3 T A 18: 12,598,535 (GRCm39) S981T possibly damaging Het
Lrrc18 T C 14: 32,730,608 (GRCm39) L49P probably damaging Het
Lrrc31 T C 3: 30,741,674 (GRCm39) E245G probably damaging Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Macf1 T C 4: 123,338,737 (GRCm39) I2456M probably benign Het
Mcm6 T A 1: 128,261,292 (GRCm39) T771S probably benign Het
Met A C 6: 17,534,197 (GRCm39) Y680S possibly damaging Het
Mixl1 T A 1: 180,524,211 (GRCm39) T123S probably damaging Het
Myocd A G 11: 65,087,051 (GRCm39) F292S probably damaging Het
Neb T C 2: 52,203,902 (GRCm39) probably null Het
Nfe2l1 A G 11: 96,718,194 (GRCm39) S114P probably damaging Het
Nrxn2 T C 19: 6,541,551 (GRCm39) S986P probably damaging Het
Oprl1 T C 2: 181,360,527 (GRCm39) probably null Het
Or11h6 T C 14: 50,880,461 (GRCm39) V241A possibly damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
Or5b101 T G 19: 13,005,295 (GRCm39) T133P probably damaging Het
Or6c8 A G 10: 128,915,640 (GRCm39) F64S probably damaging Het
Or8b53 G A 9: 38,667,425 (GRCm39) G147D probably damaging Het
Or8c9 A T 9: 38,241,467 (GRCm39) T195S probably benign Het
Panx2 T A 15: 88,952,610 (GRCm39) I359N probably damaging Het
Pik3c2b T A 1: 133,005,134 (GRCm39) V545E probably damaging Het
Piwil4 T C 9: 14,638,748 (GRCm39) N259S probably benign Het
Plcxd2 A T 16: 45,800,919 (GRCm39) F102I probably damaging Het
Pld5 A T 1: 175,917,522 (GRCm39) M75K possibly damaging Het
Pmp22 T A 11: 63,041,929 (GRCm39) probably benign Het
Polr2a A G 11: 69,631,845 (GRCm39) S1074P possibly damaging Het
Pop1 T A 15: 34,526,352 (GRCm39) V649E possibly damaging Het
Prc1 A G 7: 79,962,850 (GRCm39) N548S probably damaging Het
Prss51 T C 14: 64,334,588 (GRCm39) L202P probably damaging Het
Rhpn1 T C 15: 75,585,428 (GRCm39) S576P possibly damaging Het
Rictor A G 15: 6,738,123 (GRCm39) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,018,645 (GRCm39) L177* probably null Het
Rpl23a-ps1 T G 1: 46,021,087 (GRCm39) noncoding transcript Het
Saa2 A G 7: 46,402,902 (GRCm39) D51G probably damaging Het
Sec31a A T 5: 100,551,977 (GRCm39) probably benign Het
Secisbp2 G A 13: 51,837,361 (GRCm39) E841K possibly damaging Het
Serinc1 A G 10: 57,393,306 (GRCm39) Y437H probably damaging Het
Slc39a12 A T 2: 14,440,492 (GRCm39) H481L probably benign Het
Suz12 T A 11: 79,920,859 (GRCm39) N586K probably damaging Het
Synm T C 7: 67,386,630 (GRCm39) Y344C possibly damaging Het
Tas2r104 A G 6: 131,662,304 (GRCm39) V135A probably benign Het
Tdrd9 T C 12: 112,034,673 (GRCm39) S1371P probably benign Het
Tg T A 15: 66,700,382 (GRCm39) D893E probably benign Het
Thoc5 C A 11: 4,868,217 (GRCm39) D423E possibly damaging Het
Trim11 G A 11: 58,881,361 (GRCm39) R418H probably damaging Het
Trim52 T G 14: 106,344,399 (GRCm39) V19G probably damaging Het
Tuba4a C A 1: 75,192,502 (GRCm39) V371L probably damaging Het
Ugt8a A G 3: 125,708,606 (GRCm39) V168A probably benign Het
Ulk1 C T 5: 110,938,951 (GRCm39) G496R probably damaging Het
Usp40 A G 1: 87,874,320 (GRCm39) *1236Q probably null Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,757,350 (GRCm39) probably null Het
Vmn2r53 A G 7: 12,316,338 (GRCm39) Y494H probably damaging Het
Vmn2r65 T A 7: 84,595,442 (GRCm39) D414V probably benign Het
Wdr26 A T 1: 181,010,444 (GRCm39) L519* probably null Het
Wnk1 A G 6: 119,940,112 (GRCm39) V173A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp318 T C 17: 46,707,634 (GRCm39) S231P probably damaging Het
Zfp398 T C 6: 47,842,782 (GRCm39) V146A probably benign Het
Zfp410 T C 12: 84,378,486 (GRCm39) M270T probably damaging Het
Zfp445 A T 9: 122,682,578 (GRCm39) H454Q 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
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
R1989:Myh8 UTSW 11 67,183,550 (GRCm39) missense probably benign 0.00
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'- TCCAGAGGGACAGTTCATCGACAG -3'
(R):5'- TCTAGCCTGAAGGGTGACACTAAGG -3'

Sequencing Primer
(F):5'- TTCATCGACAGCAAGAAGGC -3'
(R):5'- GGGTGAAAGCTCATGCTAATCTC -3'
Posted On 2013-05-23