Incidental Mutation 'R4921:Myh4'
ID 378614
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 042523-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R4921 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 67128855-67151272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67144854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1256 (L1256Q)
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: L1256Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: L1256Q

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: L1256Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: L1256Q

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,662 (GRCm39) N65K probably benign Het
Abcc9 T C 6: 142,536,162 (GRCm39) Y1524C probably benign Het
Acap1 A G 11: 69,778,019 (GRCm39) I102T probably damaging Het
Acvr2a T C 2: 48,783,553 (GRCm39) V284A possibly damaging Het
Adam3 T C 8: 25,174,630 (GRCm39) M712V probably benign Het
Adck1 T C 12: 88,407,908 (GRCm39) V213A probably benign Het
Adgrl3 G T 5: 81,659,957 (GRCm39) W242L probably damaging Het
Alk T C 17: 72,211,310 (GRCm39) T857A probably benign Het
Alms1 A G 6: 85,605,528 (GRCm39) T2393A probably benign Het
Ank3 C T 10: 69,837,939 (GRCm39) P240L probably damaging Het
Ankrd35 C A 3: 96,592,140 (GRCm39) L809M possibly damaging Het
Birc6 T A 17: 74,957,094 (GRCm39) L3690Q probably damaging Het
Bmp3 C A 5: 99,019,920 (GRCm39) F114L probably damaging Het
Cage1 G A 13: 38,203,184 (GRCm39) H627Y probably benign Het
Cars1 T C 7: 143,123,212 (GRCm39) D468G probably damaging Het
Ccdc148 T C 2: 58,719,814 (GRCm39) E487G probably damaging Het
Ccdc80 A T 16: 44,938,530 (GRCm39) I746F probably damaging Het
Ccl25 A G 8: 4,403,913 (GRCm39) Q119R possibly damaging Het
Cdh24 C T 14: 54,870,672 (GRCm39) D178N probably damaging Het
Cdk12 A T 11: 98,113,513 (GRCm39) T766S unknown Het
Chst15 T A 7: 131,849,613 (GRCm39) T443S probably benign Het
Cnbp T C 6: 87,822,128 (GRCm39) D125G possibly damaging Het
Cntn2 A T 1: 132,443,770 (GRCm39) V1003E possibly damaging Het
Crct1 A G 3: 92,922,132 (GRCm39) probably benign Het
Dand5 C T 8: 85,543,113 (GRCm39) C121Y probably damaging Het
Dmkn A T 7: 30,470,658 (GRCm39) D382V probably damaging Het
Dnase2b T A 3: 146,299,196 (GRCm39) T86S probably damaging Het
Dusp8 GCCACCACCACCACCACCACCACC GCCACCACCACCACCACCACC 7: 141,635,891 (GRCm39) probably benign Het
Eef1akmt1 C T 14: 57,788,089 (GRCm39) V90M probably damaging Het
Egfl7 G T 2: 26,480,992 (GRCm39) W168L probably benign Het
Ep400 A G 5: 110,813,676 (GRCm39) C2908R probably damaging Het
Espl1 A G 15: 102,223,676 (GRCm39) K1076E probably damaging Het
Exoc4 A G 6: 33,887,452 (GRCm39) N747D probably benign Het
Fancm T C 12: 65,123,915 (GRCm39) V191A probably benign Het
Fbxo17 A G 7: 28,432,214 (GRCm39) D97G probably benign Het
Fer1l6 G T 15: 58,472,160 (GRCm39) probably null Het
Flt4 T C 11: 49,517,970 (GRCm39) W337R probably damaging Het
Fpr-rs7 T C 17: 20,334,082 (GRCm39) H136R possibly damaging Het
Frem3 T A 8: 81,339,765 (GRCm39) I686N possibly damaging Het
Galnt9 A G 5: 110,725,315 (GRCm39) K84R probably damaging Het
Gfm2 T A 13: 97,312,184 (GRCm39) M760K probably damaging Het
Glis3 T C 19: 28,643,504 (GRCm39) T13A probably damaging Het
H2-K2 A G 17: 34,216,050 (GRCm39) V323A possibly damaging Het
Hbb-bs G A 7: 103,475,927 (GRCm39) A130V probably damaging Het
Herc2 T A 7: 55,879,438 (GRCm39) H4685Q probably benign Het
Ighv5-9-1 C T 12: 113,699,914 (GRCm39) R56H possibly damaging Het
Itgb4 A G 11: 115,897,431 (GRCm39) N1548S probably benign Het
Itpr3 T C 17: 27,316,979 (GRCm39) Y745H probably damaging Het
Kank3 G T 17: 34,036,174 (GRCm39) G14V probably damaging Het
Kif24 G T 4: 41,394,329 (GRCm39) S982Y probably damaging Het
Kifc5b C T 17: 27,139,997 (GRCm39) R53W probably damaging Het
Krt39 A G 11: 99,405,575 (GRCm39) S442P possibly damaging Het
Lcat G A 8: 106,669,074 (GRCm39) P67L possibly damaging Het
Maml2 T C 9: 13,532,471 (GRCm39) S562P probably damaging Het
Map3k8 G A 18: 4,349,124 (GRCm39) R65W possibly damaging Het
Mbd3 G T 10: 80,231,410 (GRCm39) R12S probably damaging Het
Msr1 T C 8: 40,077,292 (GRCm39) E106G possibly damaging Het
Mypn G A 10: 62,983,715 (GRCm39) T511M possibly damaging Het
Nub1 A T 5: 24,906,467 (GRCm39) N331I probably benign Het
Nup107 A G 10: 117,606,416 (GRCm39) V440A possibly damaging Het
Ofcc1 A G 13: 40,367,993 (GRCm39) F174L probably benign Het
Or10d5 A C 9: 39,861,521 (GRCm39) V182G probably damaging Het
Or52ab2 A T 7: 102,969,750 (GRCm39) N44I probably damaging Het
Or9q2 T C 19: 13,772,829 (GRCm39) I49V probably benign Het
Parp2 C A 14: 51,056,725 (GRCm39) L310I probably damaging Het
Pcdh20 A G 14: 88,707,162 (GRCm39) V46A probably benign Het
Pcdhgb6 A G 18: 37,876,525 (GRCm39) D411G probably damaging Het
Pkd1l2 T C 8: 117,781,624 (GRCm39) E807G probably benign Het
Pkd1l2 A T 8: 117,799,288 (GRCm39) N267K probably damaging Het
Pramel24 A T 4: 143,454,896 (GRCm39) K398M possibly damaging Het
Rell1 C A 5: 64,093,376 (GRCm39) M126I probably damaging Het
Robo4 G A 9: 37,313,856 (GRCm39) E36K probably benign Het
Rpgrip1l T C 8: 91,987,637 (GRCm39) S807G probably benign Het
Rpl10a T C 17: 28,549,826 (GRCm39) V169A probably benign Het
Rubcn C T 16: 32,667,664 (GRCm39) V166I probably damaging Het
Sall2 T C 14: 52,552,850 (GRCm39) E113G possibly damaging Het
Sars2 T C 7: 28,451,863 (GRCm39) S423P possibly damaging Het
Scaper A G 9: 55,799,519 (GRCm39) I182T probably benign Het
Selp A G 1: 163,968,966 (GRCm39) D522G possibly damaging Het
Sema4b T A 7: 79,848,504 (GRCm39) I35N possibly damaging Het
Sgce A T 6: 4,694,153 (GRCm39) F268I probably damaging Het
Slc14a2 G T 18: 78,235,403 (GRCm39) A258E probably damaging Het
Slc17a9 T C 2: 180,377,742 (GRCm39) Y213H probably benign Het
Slc22a7 T G 17: 46,747,859 (GRCm39) I233L probably benign Het
Slc35f1 A G 10: 52,938,698 (GRCm39) Q210R probably damaging Het
Slc6a21 A G 7: 44,937,734 (GRCm39) E350G possibly damaging Het
Spata21 A T 4: 140,839,402 (GRCm39) D639V probably damaging Het
Svil A G 18: 5,108,631 (GRCm39) D1519G probably damaging Het
Tbccd1 T C 16: 22,660,649 (GRCm39) T56A probably benign Het
Tigit A T 16: 43,482,380 (GRCm39) I118N probably damaging Het
Tlr11 A T 14: 50,600,342 (GRCm39) Q776L possibly damaging Het
Tspan12 A C 6: 21,835,448 (GRCm39) I9S possibly damaging Het
Unc5c T A 3: 141,494,727 (GRCm39) Y347N probably damaging Het
Unk A G 11: 115,945,771 (GRCm39) T481A probably benign Het
Vmn1r192 A C 13: 22,371,650 (GRCm39) V190G probably damaging Het
Vnn3 A T 10: 23,740,473 (GRCm39) M259L probably benign Het
Zan T C 5: 137,406,632 (GRCm39) probably benign Het
Zdhhc6 T C 19: 55,301,642 (GRCm39) H113R probably damaging 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
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
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
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'- TCCACTGCTGTGATCCCAAC -3'
(R):5'- TCGCCTCTAATCATAGCTTAGAG -3'

Sequencing Primer
(F):5'- TGTGATCCCAACTGCTCCCAAG -3'
(R):5'- CTTGTACACATTGTGCAGGGCAAG -3'
Posted On 2016-04-15