Incidental Mutation 'R4601:Myh4'
ID 345644
Institutional Source Beutler Lab
Gene Symbol Myh4
Ensembl Gene ENSMUSG00000057003
Gene Name myosin, heavy polypeptide 4, skeletal muscle
Synonyms MYH-2B, MM, MHC2B, MyHC-IIb, Myhsf, Minimsc, Minmus
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.386) question?
Stock # R4601 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 67128855-67151272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67141136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 733 (A733T)
Ref Sequence ENSEMBL: ENSMUSP00000127514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018632] [ENSMUST00000170942]
AlphaFold Q5SX39
Predicted Effect possibly damaging
Transcript: ENSMUST00000018632
AA Change: A733T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: A733T

DomainStartEndE-ValueType
Pfam:Myosin_N 35 74 4.7e-14 PFAM
MYSc 80 783 N/A SMART
IQ 784 806 8.84e-3 SMART
Pfam:Myosin_tail_1 847 1928 2.5e-168 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170942
AA Change: A733T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: A733T

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 1.1e-15 PFAM
MYSc 80 783 N/A SMART
IQ 784 806 8.84e-3 SMART
low complexity region 928 942 N/A INTRINSIC
Pfam:Myosin_tail_1 1072 1930 N/A PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit decreased growth and muscle defects including reduced muscle mass, muscle fiber loss, compensatory fiber hypertrophy, and impaired strength. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,827,847 (GRCm39) D555E probably damaging Het
Abca16 T G 7: 120,035,920 (GRCm39) F334L probably damaging Het
Abcc4 T A 14: 118,869,575 (GRCm39) M186L probably benign Het
Agap3 T C 5: 24,681,406 (GRCm39) L120P probably damaging Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Aldh1a7 A T 19: 20,693,343 (GRCm39) V192D probably damaging Het
Ankrd36 A G 11: 5,520,102 (GRCm39) D59G probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cacna1e A G 1: 154,347,359 (GRCm39) V936A probably benign Het
Camkv T C 9: 107,823,295 (GRCm39) V107A probably damaging Het
Camp T C 9: 109,677,730 (GRCm39) E80G probably damaging Het
Cblif A C 19: 11,729,554 (GRCm39) D171A probably damaging Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd101 G A 3: 100,901,204 (GRCm39) T960M possibly damaging Het
Cdk18 A G 1: 132,044,657 (GRCm39) V323A possibly damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cemip T C 7: 83,600,826 (GRCm39) I932V probably damaging Het
Cep250 C A 2: 155,803,973 (GRCm39) Q28K probably benign Het
Ces2f T C 8: 105,676,596 (GRCm39) C97R probably damaging Het
Cfap126 G T 1: 170,941,627 (GRCm39) G41C possibly damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Chat T C 14: 32,146,112 (GRCm39) M354V probably benign Het
Clca4b A T 3: 144,632,945 (GRCm39) D168E possibly damaging Het
Cpxm1 T A 2: 130,235,496 (GRCm39) M499L possibly damaging Het
Dennd3 T A 15: 73,439,009 (GRCm39) W1126R probably damaging Het
Dgkb T C 12: 38,652,819 (GRCm39) S735P probably damaging Het
Dlec1 T C 9: 118,976,202 (GRCm39) probably null Het
Dnajc6 T C 4: 101,468,461 (GRCm39) F166L probably damaging Het
Dph5 A G 3: 115,693,426 (GRCm39) N115D possibly damaging Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Erich3 A T 3: 154,470,375 (GRCm39) D136V unknown Het
Exoc2 T C 13: 31,066,251 (GRCm39) N475S probably benign Het
Fam217a T C 13: 35,095,285 (GRCm39) D310G probably damaging Het
Fam53a C T 5: 33,758,007 (GRCm39) S372N probably benign Het
Fbn2 C G 18: 58,186,805 (GRCm39) G1699R probably damaging Het
Fbxo46 T C 7: 18,869,489 (GRCm39) V36A probably benign Het
Fhip1a T C 3: 85,648,487 (GRCm39) M26V probably damaging Het
G6pc1 A G 11: 101,263,567 (GRCm39) Y127C probably damaging Het
Gba2 A G 4: 43,573,810 (GRCm39) F161L probably damaging Het
Gja1 T C 10: 56,264,325 (GRCm39) L228P probably damaging Het
Gm20834 A G Y: 10,323,178 (GRCm39) V86A probably benign Het
Hmcn1 A T 1: 150,614,396 (GRCm39) C1337S probably damaging Het
Il1rl1 T A 1: 40,480,460 (GRCm39) S30T possibly damaging Het
Itgb4 A G 11: 115,896,548 (GRCm39) T1436A probably damaging Het
Itk T A 11: 46,227,342 (GRCm39) Q427L probably benign Het
Klhdc4 T C 8: 122,526,266 (GRCm39) E291G probably damaging Het
Map4 T A 9: 109,881,887 (GRCm39) S250R possibly damaging Het
Mnt T A 11: 74,727,285 (GRCm39) V57E possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtcl2 T C 2: 156,881,844 (GRCm39) K736R probably benign Het
Musk A T 4: 58,301,625 (GRCm39) I128F probably damaging Het
Myo5a T A 9: 75,043,670 (GRCm39) F220I probably damaging Het
Npas3 A G 12: 54,091,361 (GRCm39) H305R probably damaging Het
Nrcam A T 12: 44,637,839 (GRCm39) Y1132F probably damaging Het
Nt5c3b A C 11: 100,323,744 (GRCm39) D189E probably benign Het
Nuf2 A G 1: 169,333,683 (GRCm39) L331P probably damaging Het
Nup214 C T 2: 31,887,977 (GRCm39) T646I probably benign Het
Or14j9 T C 17: 37,875,076 (GRCm39) N42S probably damaging Het
Pcdh18 T C 3: 49,699,174 (GRCm39) E1096G probably damaging Het
Pgm2 T A 5: 64,265,070 (GRCm39) F364I probably benign Het
Pikfyve A G 1: 65,273,421 (GRCm39) N612S probably damaging Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Prkd2 G T 7: 16,577,573 (GRCm39) probably benign Het
Rnf133 T C 6: 23,649,041 (GRCm39) E296G possibly damaging Het
Sav1 A T 12: 70,031,095 (GRCm39) D142E probably benign Het
Scn3b C A 9: 40,199,719 (GRCm39) P212T probably damaging Het
Sel1l A T 12: 91,799,827 (GRCm39) probably null Het
Septin9 A G 11: 117,251,310 (GRCm39) K543E probably damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Snrpa A G 7: 26,894,958 (GRCm39) M1T probably null Het
Sptlc3 G A 2: 139,478,600 (GRCm39) V520I probably benign Het
Srpk3 A G X: 72,818,547 (GRCm39) H79R possibly damaging Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Stradb G A 1: 59,032,731 (GRCm39) S361N probably damaging Het
Sult3a2 T C 10: 33,658,083 (GRCm39) K10R probably benign Het
Susd4 A G 1: 182,686,025 (GRCm39) N192D probably damaging Het
Tcp10a T A 17: 7,593,374 (GRCm39) D32E probably benign Het
Tdpoz4 T A 3: 93,704,339 (GRCm39) V212D probably damaging Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tex55 A G 16: 38,648,380 (GRCm39) V243A probably benign Het
Traj37 T C 14: 54,418,996 (GRCm39) probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Vmn2r115 T A 17: 23,565,373 (GRCm39) L420Q probably benign Het
Wdr24 T A 17: 26,047,181 (GRCm39) probably null Het
Wdr81 T A 11: 75,336,484 (GRCm39) Q516L probably damaging Het
Zfp516 A G 18: 82,974,164 (GRCm39) T121A probably benign Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
Other mutations in Myh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Myh4 APN 11 67,146,205 (GRCm39) missense probably damaging 1.00
IGL01600:Myh4 APN 11 67,151,015 (GRCm39) missense possibly damaging 0.85
IGL01737:Myh4 APN 11 67,134,245 (GRCm39) splice site probably benign
IGL02208:Myh4 APN 11 67,142,760 (GRCm39) missense possibly damaging 0.96
IGL02334:Myh4 APN 11 67,136,373 (GRCm39) missense probably damaging 1.00
IGL02376:Myh4 APN 11 67,136,554 (GRCm39) missense probably benign 0.00
IGL02429:Myh4 APN 11 67,149,808 (GRCm39) nonsense probably null
IGL02450:Myh4 APN 11 67,142,635 (GRCm39) missense probably damaging 1.00
IGL02524:Myh4 APN 11 67,140,066 (GRCm39) missense possibly damaging 0.79
IGL02612:Myh4 APN 11 67,147,305 (GRCm39) missense probably benign
IGL03024:Myh4 APN 11 67,139,305 (GRCm39) missense probably damaging 1.00
IGL03065:Myh4 APN 11 67,149,982 (GRCm39) missense probably benign 0.12
IGL03084:Myh4 APN 11 67,142,777 (GRCm39) splice site probably null
IGL03188:Myh4 APN 11 67,137,369 (GRCm39) critical splice donor site probably null
IGL03204:Myh4 APN 11 67,141,122 (GRCm39) missense possibly damaging 0.63
IGL03252:Myh4 APN 11 67,143,042 (GRCm39) missense probably damaging 0.99
IGL03345:Myh4 APN 11 67,146,304 (GRCm39) missense probably damaging 1.00
Mr_chicken UTSW 11 67,140,711 (GRCm39) missense possibly damaging 0.74
Mrs_muir UTSW 11 67,136,339 (GRCm39) missense probably damaging 1.00
Willies UTSW 11 67,132,335 (GRCm39) missense probably damaging 1.00
F6893:Myh4 UTSW 11 67,146,283 (GRCm39) missense probably null 0.12
PIT1430001:Myh4 UTSW 11 67,149,658 (GRCm39) missense probably benign 0.01
PIT4458001:Myh4 UTSW 11 67,131,821 (GRCm39) missense possibly damaging 0.56
R0099:Myh4 UTSW 11 67,150,173 (GRCm39) missense probably benign
R0194:Myh4 UTSW 11 67,143,162 (GRCm39) missense probably damaging 1.00
R0346:Myh4 UTSW 11 67,151,152 (GRCm39) missense probably benign
R0427:Myh4 UTSW 11 67,149,479 (GRCm39) missense probably damaging 0.98
R0483:Myh4 UTSW 11 67,143,123 (GRCm39) missense probably damaging 1.00
R0571:Myh4 UTSW 11 67,141,157 (GRCm39) missense possibly damaging 0.91
R0854:Myh4 UTSW 11 67,149,973 (GRCm39) missense possibly damaging 0.90
R0940:Myh4 UTSW 11 67,133,689 (GRCm39) missense probably damaging 1.00
R0946:Myh4 UTSW 11 67,142,577 (GRCm39) missense possibly damaging 0.70
R1108:Myh4 UTSW 11 67,146,532 (GRCm39) missense probably null 0.01
R1162:Myh4 UTSW 11 67,149,439 (GRCm39) missense probably damaging 0.97
R1194:Myh4 UTSW 11 67,146,560 (GRCm39) critical splice donor site probably null
R1347:Myh4 UTSW 11 67,135,567 (GRCm39) splice site probably benign
R1457:Myh4 UTSW 11 67,139,287 (GRCm39) missense probably damaging 0.99
R1531:Myh4 UTSW 11 67,141,366 (GRCm39) missense probably benign 0.01
R1716:Myh4 UTSW 11 67,141,135 (GRCm39) missense possibly damaging 0.92
R1766:Myh4 UTSW 11 67,147,121 (GRCm39) missense possibly damaging 0.61
R1796:Myh4 UTSW 11 67,151,150 (GRCm39) missense probably benign
R1856:Myh4 UTSW 11 67,146,508 (GRCm39) missense probably damaging 1.00
R1873:Myh4 UTSW 11 67,145,569 (GRCm39) missense probably benign 0.16
R2069:Myh4 UTSW 11 67,137,192 (GRCm39) splice site probably benign
R2370:Myh4 UTSW 11 67,146,454 (GRCm39) missense probably damaging 1.00
R2406:Myh4 UTSW 11 67,150,000 (GRCm39) missense probably damaging 1.00
R2414:Myh4 UTSW 11 67,141,594 (GRCm39) missense probably benign 0.01
R2848:Myh4 UTSW 11 67,139,459 (GRCm39) missense probably benign 0.20
R3111:Myh4 UTSW 11 67,137,276 (GRCm39) missense possibly damaging 0.86
R3744:Myh4 UTSW 11 67,146,141 (GRCm39) missense probably damaging 1.00
R3845:Myh4 UTSW 11 67,149,931 (GRCm39) missense possibly damaging 0.90
R3877:Myh4 UTSW 11 67,148,009 (GRCm39) missense probably benign 0.00
R4498:Myh4 UTSW 11 67,142,578 (GRCm39) missense probably damaging 1.00
R4514:Myh4 UTSW 11 67,146,395 (GRCm39) missense probably benign 0.06
R4673:Myh4 UTSW 11 67,137,227 (GRCm39) missense probably benign 0.02
R4684:Myh4 UTSW 11 67,136,637 (GRCm39) missense probably damaging 0.99
R4736:Myh4 UTSW 11 67,131,746 (GRCm39) missense probably benign 0.01
R4837:Myh4 UTSW 11 67,149,818 (GRCm39) missense probably benign 0.38
R4866:Myh4 UTSW 11 67,139,453 (GRCm39) missense probably benign 0.00
R4869:Myh4 UTSW 11 67,143,490 (GRCm39) missense probably damaging 1.00
R4887:Myh4 UTSW 11 67,131,880 (GRCm39) missense probably damaging 0.99
R4921:Myh4 UTSW 11 67,144,854 (GRCm39) missense probably damaging 1.00
R5005:Myh4 UTSW 11 67,144,241 (GRCm39) missense probably benign 0.05
R5008:Myh4 UTSW 11 67,144,358 (GRCm39) missense probably benign 0.00
R5011:Myh4 UTSW 11 67,147,189 (GRCm39) missense probably benign 0.03
R5087:Myh4 UTSW 11 67,146,235 (GRCm39) missense probably damaging 1.00
R5277:Myh4 UTSW 11 67,143,180 (GRCm39) missense probably damaging 1.00
R5336:Myh4 UTSW 11 67,150,017 (GRCm39) splice site probably null
R5354:Myh4 UTSW 11 67,146,551 (GRCm39) missense possibly damaging 0.69
R5371:Myh4 UTSW 11 67,150,150 (GRCm39) missense probably damaging 1.00
R5484:Myh4 UTSW 11 67,142,644 (GRCm39) missense probably damaging 1.00
R5774:Myh4 UTSW 11 67,144,034 (GRCm39) nonsense probably null
R5902:Myh4 UTSW 11 67,141,733 (GRCm39) missense possibly damaging 0.69
R5941:Myh4 UTSW 11 67,150,126 (GRCm39) missense probably damaging 0.99
R6045:Myh4 UTSW 11 67,135,550 (GRCm39) missense probably benign 0.32
R6156:Myh4 UTSW 11 67,141,618 (GRCm39) missense probably benign 0.00
R6301:Myh4 UTSW 11 67,146,159 (GRCm39) missense possibly damaging 0.95
R6318:Myh4 UTSW 11 67,134,268 (GRCm39) missense probably benign 0.02
R6352:Myh4 UTSW 11 67,143,108 (GRCm39) missense probably damaging 1.00
R6385:Myh4 UTSW 11 67,146,663 (GRCm39) missense probably damaging 1.00
R6493:Myh4 UTSW 11 67,149,455 (GRCm39) missense probably benign 0.16
R6666:Myh4 UTSW 11 67,142,638 (GRCm39) missense probably damaging 1.00
R6826:Myh4 UTSW 11 67,137,357 (GRCm39) missense probably damaging 1.00
R6852:Myh4 UTSW 11 67,143,794 (GRCm39) splice site probably null
R6857:Myh4 UTSW 11 67,140,711 (GRCm39) missense possibly damaging 0.74
R7029:Myh4 UTSW 11 67,137,251 (GRCm39) missense probably benign 0.40
R7076:Myh4 UTSW 11 67,143,999 (GRCm39) missense possibly damaging 0.85
R7145:Myh4 UTSW 11 67,151,054 (GRCm39) missense possibly damaging 0.54
R7179:Myh4 UTSW 11 67,135,550 (GRCm39) missense probably benign 0.32
R7365:Myh4 UTSW 11 67,133,674 (GRCm39) missense probably damaging 1.00
R7514:Myh4 UTSW 11 67,134,148 (GRCm39) critical splice donor site probably null
R7553:Myh4 UTSW 11 67,147,221 (GRCm39) missense probably damaging 0.99
R7666:Myh4 UTSW 11 67,147,107 (GRCm39) missense probably damaging 0.99
R7673:Myh4 UTSW 11 67,136,339 (GRCm39) missense probably damaging 1.00
R7685:Myh4 UTSW 11 67,131,756 (GRCm39) missense probably benign 0.13
R8154:Myh4 UTSW 11 67,144,200 (GRCm39) missense probably damaging 1.00
R8343:Myh4 UTSW 11 67,143,390 (GRCm39) missense possibly damaging 0.45
R8446:Myh4 UTSW 11 67,144,347 (GRCm39) missense probably benign 0.14
R8534:Myh4 UTSW 11 67,134,335 (GRCm39) missense probably benign 0.17
R8710:Myh4 UTSW 11 67,143,158 (GRCm39) missense probably benign
R8775:Myh4 UTSW 11 67,148,006 (GRCm39) missense probably benign 0.25
R8775-TAIL:Myh4 UTSW 11 67,148,006 (GRCm39) missense probably benign 0.25
R8852:Myh4 UTSW 11 67,132,335 (GRCm39) missense probably damaging 1.00
R8860:Myh4 UTSW 11 67,132,335 (GRCm39) missense probably damaging 1.00
R8897:Myh4 UTSW 11 67,137,362 (GRCm39) missense possibly damaging 0.90
R8954:Myh4 UTSW 11 67,143,806 (GRCm39) missense possibly damaging 0.95
R8957:Myh4 UTSW 11 67,141,780 (GRCm39) missense possibly damaging 0.78
R9065:Myh4 UTSW 11 67,139,573 (GRCm39) missense probably benign
R9280:Myh4 UTSW 11 67,146,135 (GRCm39) missense probably damaging 0.96
R9296:Myh4 UTSW 11 67,146,130 (GRCm39) missense possibly damaging 0.95
R9310:Myh4 UTSW 11 67,145,570 (GRCm39) missense probably damaging 1.00
R9314:Myh4 UTSW 11 67,151,141 (GRCm39) missense probably benign 0.01
R9462:Myh4 UTSW 11 67,141,811 (GRCm39) missense possibly damaging 0.93
R9516:Myh4 UTSW 11 67,141,129 (GRCm39) missense probably damaging 1.00
R9516:Myh4 UTSW 11 67,139,290 (GRCm39) missense probably damaging 0.99
R9773:Myh4 UTSW 11 67,137,263 (GRCm39) missense probably damaging 1.00
X0027:Myh4 UTSW 11 67,137,306 (GRCm39) missense probably damaging 1.00
Z1176:Myh4 UTSW 11 67,147,097 (GRCm39) missense probably benign 0.02
Z1176:Myh4 UTSW 11 67,144,331 (GRCm39) missense probably damaging 1.00
Z1176:Myh4 UTSW 11 67,139,467 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGCAGAGGTGTGTCTCAC -3'
(R):5'- CCGGCTTTAAAGAAAACCTTGG -3'

Sequencing Primer
(F):5'- ACATCCGCTCACATTTTACATAG -3'
(R):5'- CTTTAAAGAAAACCTTGGCAGAGAGC -3'
Posted On 2015-09-25