Incidental Mutation 'R8954:Myh4'
ID 681864
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 068790-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R8954 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 67128855-67151272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67143806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1089 (F1089I)
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: F1089I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: F1089I

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: F1089I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: F1089I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T A 2: 93,688,299 (GRCm39) Y445F probably benign Het
Actn4 T C 7: 28,594,583 (GRCm39) D815G probably damaging Het
Adam4 T C 12: 81,467,146 (GRCm39) S492G possibly damaging Het
Anapc2 A G 2: 25,170,490 (GRCm39) K643E probably benign Het
Ankfy1 T A 11: 72,641,317 (GRCm39) I630K possibly damaging Het
Arhgap24 A G 5: 103,040,136 (GRCm39) T361A probably benign Het
Arhgef28 T C 13: 98,066,141 (GRCm39) M1571V probably benign Het
Arid5b A C 10: 67,937,810 (GRCm39) V196G possibly damaging Het
Art2b C A 7: 101,229,110 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,807 (GRCm39) R932H probably damaging Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Brd10 A T 19: 29,696,126 (GRCm39) N1122K possibly damaging Het
C5ar2 C A 7: 15,971,733 (GRCm39) V65F possibly damaging Het
Cfap54 A T 10: 92,879,255 (GRCm39) L403Q probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Chac1 C T 2: 119,183,836 (GRCm39) A146V probably damaging Het
Cpne2 T A 8: 95,284,774 (GRCm39) S317T probably damaging Het
Cux1 T A 5: 136,402,203 (GRCm39) K138* probably null Het
Cwc22 T A 2: 77,754,937 (GRCm39) Y214F probably damaging Het
Cyp2c39 A T 19: 39,525,197 (GRCm39) T167S probably benign Het
Cyp4a12a T A 4: 115,185,935 (GRCm39) Y414* probably null Het
Dap3 A T 3: 88,835,570 (GRCm39) D256E probably damaging Het
Dmxl2 C T 9: 54,381,156 (GRCm39) S110N probably benign Het
Dnhd1 A T 7: 105,343,986 (GRCm39) I1777L probably benign Het
Ecel1 G A 1: 87,076,349 (GRCm39) Q717* probably null Het
Efcab3 T G 11: 104,909,525 (GRCm39) probably null Het
Eif3j2 G A 18: 43,610,699 (GRCm39) T38M possibly damaging Het
Fat3 T C 9: 16,287,864 (GRCm39) H553R probably benign Het
Fcho2 T C 13: 98,913,985 (GRCm39) D204G probably benign Het
Frmpd1 A T 4: 45,284,702 (GRCm39) E1174D probably benign Het
Gabra6 T A 11: 42,205,959 (GRCm39) Y299F probably damaging Het
Gak G A 5: 108,777,518 (GRCm39) probably benign Het
Gapdhs T A 7: 30,432,591 (GRCm39) H214L probably damaging Het
Gapvd1 T C 2: 34,568,110 (GRCm39) Y1418C probably damaging Het
Gk5 C A 9: 96,059,562 (GRCm39) D471E probably benign Het
Glg1 A G 8: 111,914,527 (GRCm39) M419T probably damaging Het
H2ac25 T A 11: 58,845,785 (GRCm39) N74K possibly damaging Het
Ice1 T C 13: 70,758,697 (GRCm39) N215S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifitm10 T C 7: 141,882,300 (GRCm39) N157D probably benign Het
Itga11 A G 9: 62,676,545 (GRCm39) D911G possibly damaging Het
Kcnt1 A G 2: 25,784,338 (GRCm39) N247S probably benign Het
Kirrel1 T C 3: 86,997,173 (GRCm39) T265A probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Kmt2b T G 7: 30,273,640 (GRCm39) T2326P probably damaging Het
Lcn11 A G 2: 25,669,265 (GRCm39) S141G probably benign Het
Ldb3 T C 14: 34,277,301 (GRCm39) R358G probably null Het
Ldlr G A 9: 21,650,828 (GRCm39) D446N possibly damaging Het
Lipt2 T C 7: 99,809,449 (GRCm39) F179L probably damaging Het
Lmbrd1 G T 1: 24,745,121 (GRCm39) V154F possibly damaging Het
Malrd1 A G 2: 15,556,178 (GRCm39) I99V Het
Map1b T A 13: 99,570,735 (GRCm39) E662V unknown Het
Mfsd11 T C 11: 116,750,162 (GRCm39) S100P probably damaging Het
Mgst1 C T 6: 138,119,967 (GRCm39) probably benign Het
Mtf1 T A 4: 124,698,649 (GRCm39) V49D probably damaging Het
Mtss1 T C 15: 58,826,986 (GRCm39) D236G probably damaging Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Nrxn1 A T 17: 90,897,615 (GRCm39) I835K probably damaging Het
Nsd3 T A 8: 26,163,394 (GRCm39) S595T probably damaging Het
Nt5c2 A T 19: 46,877,361 (GRCm39) S527T probably damaging Het
Or52m1 T C 7: 102,289,882 (GRCm39) V143A probably benign Het
Or56b2 T A 7: 104,337,900 (GRCm39) L226* probably null Het
Or5k3 T A 16: 58,969,319 (GRCm39) Y35* probably null Het
Or7e175 A T 9: 20,048,664 (GRCm39) D84V probably damaging Het
Or8k28 C A 2: 86,285,892 (GRCm39) C241F probably damaging Het
Osbpl8 A G 10: 111,108,053 (GRCm39) S350G probably benign Het
Otoa G A 7: 120,744,741 (GRCm39) W833* probably null Het
Pcdhga6 T G 18: 37,841,540 (GRCm39) I420S probably damaging Het
Pmfbp1 A C 8: 110,258,433 (GRCm39) M666L probably benign Het
Pola2 T G 19: 5,998,452 (GRCm39) D370A probably damaging Het
Ppip5k1 C G 2: 121,153,701 (GRCm39) probably benign Het
Ppp1r12b A T 1: 134,762,200 (GRCm39) D815E probably benign Het
Ppp4r3b T A 11: 29,155,669 (GRCm39) V545E possibly damaging Het
Ptpn23 A T 9: 110,221,568 (GRCm39) N177K probably damaging Het
Rad9b A T 5: 122,482,293 (GRCm39) S147R probably benign Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Samd9l C T 6: 3,374,577 (GRCm39) V895I probably damaging Het
Sbf2 T A 7: 110,038,118 (GRCm39) K396* probably null Het
Sbno2 G T 10: 79,893,796 (GRCm39) Q1198K probably damaging Het
Scp2d1 C T 2: 144,665,886 (GRCm39) T75I probably damaging Het
Shank3 T A 15: 89,433,431 (GRCm39) I1392N possibly damaging Het
Sidt1 A G 16: 44,082,390 (GRCm39) F532L probably benign Het
Smchd1 A T 17: 71,755,752 (GRCm39) V243D probably damaging Het
Smg1 T C 7: 117,806,215 (GRCm39) R185G probably damaging Het
Spag16 C T 1: 70,036,004 (GRCm39) S344F Het
Spata31f3 G T 4: 42,871,753 (GRCm39) D207E probably damaging Het
Spsb3 A G 17: 25,110,493 (GRCm39) D440G probably damaging Het
Themis A C 10: 28,665,709 (GRCm39) S591R probably benign Het
Trpm1 G A 7: 63,858,089 (GRCm39) V177I probably damaging Het
Usp37 A G 1: 74,514,143 (GRCm39) probably null Het
Vmn1r171 C T 7: 23,332,525 (GRCm39) T238I probably damaging Het
Vmn2r33 T C 7: 7,554,655 (GRCm39) M633V probably benign Het
Vmn2r93 T A 17: 18,546,252 (GRCm39) L708H probably damaging Het
Vps35l A T 7: 118,393,801 (GRCm39) T450S possibly damaging Het
Wdr53 T A 16: 32,075,473 (GRCm39) V226E probably damaging Het
Wdr62 T A 7: 29,953,454 (GRCm39) I193F probably damaging Het
Zfp607b T A 7: 27,403,387 (GRCm39) D614E 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
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
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
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'- AGCCCTGACTTCTCACTGTG -3'
(R):5'- TCTCTGCTTTAGCCCTGGAG -3'

Sequencing Primer
(F):5'- GAGTGTTTCCAAATGATTGCTTCATC -3'
(R):5'- TCCAGCTCCTCGATGCG -3'
Posted On 2021-08-31