Incidental Mutation 'R1856:Myh4'
ID 206148
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
MMRRC Submission 039880-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R1856 (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 67146508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1494 (E1494K)
Ref Sequence ENSEMBL: ENSMUSP00000127514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018632] [ENSMUST00000170942]
AlphaFold Q5SX39
Predicted Effect probably damaging
Transcript: ENSMUST00000018632
AA Change: E1494K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: E1494K

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 probably damaging
Transcript: ENSMUST00000170942
AA Change: E1494K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: E1494K

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,504,453 (GRCm39) M233L probably benign Het
Abca14 T G 7: 119,877,404 (GRCm39) F1017L probably damaging Het
Abcb11 A C 2: 69,076,267 (GRCm39) V1147G probably damaging Het
Abcc10 T A 17: 46,617,529 (GRCm39) S1128C probably damaging Het
Adam6a G A 12: 113,508,923 (GRCm39) C432Y probably damaging Het
Adamdec1 C T 14: 68,808,397 (GRCm39) V318M probably damaging Het
Ahnak C A 19: 8,979,412 (GRCm39) S232Y possibly damaging Het
Amt A C 9: 108,174,361 (GRCm39) H42P probably damaging Het
Anapc1 A T 2: 128,501,708 (GRCm39) L778Q probably damaging Het
Ankhd1 G A 18: 36,777,580 (GRCm39) A1588T probably benign Het
Anln A T 9: 22,264,627 (GRCm39) L881Q probably damaging Het
Appl1 A G 14: 26,649,706 (GRCm39) S607P probably damaging Het
Arg2 G T 12: 79,194,436 (GRCm39) V87L probably benign Het
Atp13a2 C T 4: 140,731,323 (GRCm39) P869L probably benign Het
Atxn7l1 T A 12: 33,408,769 (GRCm39) D310E probably damaging Het
Cd6 A T 19: 10,775,966 (GRCm39) D164E probably damaging Het
Cdan1 C A 2: 120,555,417 (GRCm39) V775L probably benign Het
Cep164 A T 9: 45,687,056 (GRCm39) probably null Het
Cep41 A G 6: 30,661,005 (GRCm39) S61P probably damaging Het
Clcn7 C A 17: 25,379,445 (GRCm39) D764E probably damaging Het
Cog2 G A 8: 125,278,142 (GRCm39) G703S possibly damaging Het
Cramp1 T C 17: 25,187,952 (GRCm39) D1214G probably damaging Het
Cst7 G T 2: 150,419,628 (GRCm39) C98F probably damaging Het
Ctc1 T A 11: 68,925,484 (GRCm39) L1007Q probably damaging Het
Cyb5r4 G A 9: 86,904,262 (GRCm39) A11T possibly damaging Het
Dcaf8 A G 1: 172,003,120 (GRCm39) D306G probably damaging Het
Defb38 T A 8: 19,073,592 (GRCm39) K27I probably benign Het
Disp3 T C 4: 148,356,089 (GRCm39) E257G probably damaging Het
Dnajc6 T C 4: 101,456,185 (GRCm39) S58P probably damaging Het
Dock10 A T 1: 80,584,285 (GRCm39) D140E possibly damaging Het
Dop1a T C 9: 86,374,057 (GRCm39) V172A probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eci3 C T 13: 35,137,011 (GRCm39) A171T possibly damaging Het
Eml2 A G 7: 18,927,986 (GRCm39) D284G probably damaging Het
Eml5 T C 12: 98,776,843 (GRCm39) D1377G probably damaging Het
Fam186a T C 15: 99,838,183 (GRCm39) E2687G possibly damaging Het
Fut9 A C 4: 25,620,352 (GRCm39) L154R probably damaging Het
Gabrb2 A G 11: 42,517,540 (GRCm39) N454S probably benign Het
Gpr183 T A 14: 122,192,153 (GRCm39) I123L probably benign Het
Gucy1b1 A T 3: 81,965,659 (GRCm39) N62K probably benign Het
Hcrtr2 T C 9: 76,167,067 (GRCm39) N90S probably damaging Het
Hectd1 A T 12: 51,791,577 (GRCm39) L2556Q probably damaging Het
Hfm1 T A 5: 106,995,542 (GRCm39) M1290L probably benign Het
Hgsnat A G 8: 26,447,284 (GRCm39) W337R probably benign Het
Hmbox1 T C 14: 65,066,097 (GRCm39) Y291C probably damaging Het
Hmcn1 T C 1: 150,597,415 (GRCm39) N1749S probably benign Het
Igsf10 T C 3: 59,238,693 (GRCm39) D496G possibly damaging Het
Iqch C T 9: 63,441,619 (GRCm39) probably null Het
Irf6 A G 1: 192,849,843 (GRCm39) D255G probably benign Het
Kif9 G A 9: 110,346,787 (GRCm39) G642R probably null Het
Klhl20 A G 1: 160,934,312 (GRCm39) Y236H probably benign Het
Krt39 T A 11: 99,409,914 (GRCm39) K208* probably null Het
Lama3 T A 18: 12,670,838 (GRCm39) L808* probably null Het
Lrp5 C T 19: 3,647,346 (GRCm39) A1299T probably benign Het
Lysmd4 A G 7: 66,875,979 (GRCm39) Q214R probably benign Het
Macf1 T A 4: 123,263,641 (GRCm39) E6960V probably damaging Het
Mcpt2 A G 14: 56,281,156 (GRCm39) E120G probably benign Het
Mpeg1 A G 19: 12,439,720 (GRCm39) T393A probably benign Het
Nbas T G 12: 13,524,230 (GRCm39) S1695R possibly damaging Het
Nlgn1 G T 3: 25,494,201 (GRCm39) Y249* probably null Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nup107 A G 10: 117,586,811 (GRCm39) L910P probably damaging Het
Obscn T A 11: 58,931,122 (GRCm39) D5838V probably damaging Het
Or10g7 T C 9: 39,905,655 (GRCm39) I183T probably benign Het
Or1j18 T C 2: 36,624,357 (GRCm39) I8T probably benign Het
Or4c113 G A 2: 88,885,203 (GRCm39) T189M possibly damaging Het
Or8d2b T C 9: 38,788,892 (GRCm39) I140T possibly damaging Het
Otogl G T 10: 107,690,125 (GRCm39) S915Y possibly damaging Het
P2rx7 T A 5: 122,819,095 (GRCm39) C506S probably damaging Het
P4hb T C 11: 120,454,044 (GRCm39) E350G probably benign Het
Papolg A T 11: 23,817,379 (GRCm39) V606E probably benign Het
Pappa A T 4: 65,258,980 (GRCm39) D1576V probably damaging Het
Pclo G T 5: 14,828,566 (GRCm39) V1402F probably damaging Het
Pdcd11 A G 19: 47,086,626 (GRCm39) T211A probably benign Het
Pdzd2 T C 15: 12,373,941 (GRCm39) R2065G possibly damaging Het
Plcl2 T C 17: 50,914,878 (GRCm39) V629A probably benign Het
Prkcsh G A 9: 21,915,871 (GRCm39) V92I possibly damaging Het
Prpf19 G T 19: 10,879,780 (GRCm39) V320F probably damaging Het
Ptpn3 T A 4: 57,239,682 (GRCm39) I283F probably damaging Het
Rcc2 T A 4: 140,447,915 (GRCm39) D480E probably benign Het
Rnf182 G A 13: 43,821,518 (GRCm39) C23Y probably damaging Het
Rnf186 C T 4: 138,694,673 (GRCm39) T71I probably benign Het
Scyl3 A G 1: 163,761,265 (GRCm39) probably null Het
Slc12a6 G T 2: 112,166,272 (GRCm39) probably null Het
Slc1a2 C A 2: 102,607,912 (GRCm39) S520Y probably damaging Het
Slc35e2 T A 4: 155,696,186 (GRCm39) L191Q probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Snx33 T C 9: 56,833,295 (GRCm39) H258R possibly damaging Het
Tecpr2 A T 12: 110,899,498 (GRCm39) H622L probably benign Het
Thbs3 A T 3: 89,133,713 (GRCm39) E888D probably damaging Het
Tlk2 T C 11: 105,112,124 (GRCm39) L159P probably benign Het
Tmem70 A T 1: 16,747,497 (GRCm39) T205S probably damaging Het
Trappc10 T A 10: 78,032,285 (GRCm39) H1001L probably benign Het
Trim12a T C 7: 103,950,064 (GRCm39) T292A probably benign Het
Trip11 G A 12: 101,849,592 (GRCm39) R92* probably null Het
Trpa1 G A 1: 14,969,612 (GRCm39) Q386* probably null Het
Trpc4 T A 3: 54,187,410 (GRCm39) V454D probably damaging Het
Ttc36 A T 9: 44,714,051 (GRCm39) D22E probably benign Het
Ttk A T 9: 83,751,316 (GRCm39) I798F probably damaging Het
Ttn T C 2: 76,573,977 (GRCm39) I17312V probably damaging Het
Txndc15 A T 13: 55,865,875 (GRCm39) E113V possibly damaging Het
Ube2d4 T A 15: 58,718,448 (GRCm39) noncoding transcript Het
Urb1 T A 16: 90,558,583 (GRCm39) T1723S probably benign Het
Vmn1r65 A T 7: 6,011,265 (GRCm39) V323D possibly damaging Het
Vmn2r54 A G 7: 12,366,238 (GRCm39) M232T probably benign Het
Wdr59 A G 8: 112,202,813 (GRCm39) S577P probably damaging Het
Wfikkn2 C T 11: 94,128,949 (GRCm39) W397* probably null Het
Ypel1 T A 16: 16,899,511 (GRCm39) probably null Het
Ythdf1 T A 2: 180,552,763 (GRCm39) D484V probably damaging Het
Zdhhc17 A G 10: 110,783,154 (GRCm39) probably null Het
Zfp472 A T 17: 33,184,887 (GRCm39) H2L possibly damaging Het
Zfp953 A T 13: 67,493,422 (GRCm39) M74K probably benign Het
Zmat4 C T 8: 24,419,151 (GRCm39) T61M probably benign Het
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
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
R4601:Myh4 UTSW 11 67,141,136 (GRCm39) missense possibly damaging 0.94
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'- CGCTGCGCTTGATAAGAAGC -3'
(R):5'- AATCTGCTCGGTCAGGTCAG -3'

Sequencing Primer
(F):5'- AACTTTGACAAGGTGGCCC -3'
(R):5'- GAGATCTCCTCTGCGGAAGAAC -3'
Posted On 2014-06-23