Incidental Mutation 'R1344:Myh3'
ID 200751
Institutional Source Beutler Lab
Gene Symbol Myh3
Ensembl Gene ENSMUSG00000020908
Gene Name myosin, heavy polypeptide 3, skeletal muscle, embryonic
Synonyms Myhse, Myhs-e, MyHC-emb
MMRRC Submission 039409-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R1344 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66983158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 895 (E895G)
Ref Sequence ENSEMBL: ENSMUSP00000131883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
AlphaFold P13541
Predicted Effect probably benign
Transcript: ENSMUST00000007301
AA Change: E895G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: E895G

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 1.1e-14 PFAM
MYSc 80 780 N/A SMART
IQ 781 803 1.65e-2 SMART
IQ 807 829 2.25e2 SMART
low complexity region 844 856 N/A INTRINSIC
low complexity region 925 939 N/A INTRINSIC
low complexity region 1020 1028 N/A INTRINSIC
Pfam:Myosin_tail_1 1069 1927 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108689
AA Change: E895G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: E895G

DomainStartEndE-ValueType
Pfam:Myosin_N 35 76 1.1e-14 PFAM
MYSc 80 780 N/A SMART
IQ 781 803 1.65e-2 SMART
IQ 807 829 2.25e2 SMART
low complexity region 844 856 N/A INTRINSIC
low complexity region 925 939 N/A INTRINSIC
low complexity region 1020 1028 N/A INTRINSIC
Pfam:Myosin_tail_1 1069 1927 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165221
AA Change: E895G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: E895G

DomainStartEndE-ValueType
Pfam:Myosin_N 35 74 2.2e-13 PFAM
MYSc 80 780 N/A SMART
IQ 781 803 1.65e-2 SMART
IQ 807 829 2.25e2 SMART
Pfam:Myosin_tail_1 844 1925 2.1e-164 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T G 6: 52,156,131 (GRCm39) probably benign Het
Aco1 T C 4: 40,179,008 (GRCm39) Y336H probably damaging Het
Adamts12 T A 15: 11,286,890 (GRCm39) W832R probably damaging Het
Asxl2 A G 12: 3,543,790 (GRCm39) K320E probably damaging Het
Atrnl1 G A 19: 57,924,137 (GRCm39) probably null Het
B4galnt2 A C 11: 95,760,181 (GRCm39) I282S probably benign Het
Bcl2l13 T C 6: 120,853,288 (GRCm39) I191T probably benign Het
Bltp3a A G 17: 28,113,551 (GRCm39) K1241R probably benign Het
Cd101 A T 3: 100,926,091 (GRCm39) Y209* probably null Het
Cd109 A T 9: 78,579,832 (GRCm39) probably null Het
Cdc34 G A 10: 79,521,134 (GRCm39) A128T probably damaging Het
Cdk12 T A 11: 98,132,611 (GRCm39) S1013R unknown Het
Cntd1 T A 11: 101,176,566 (GRCm39) L221Q possibly damaging Het
Cntn4 G A 6: 106,321,831 (GRCm39) probably null Het
Col12a1 T A 9: 79,606,837 (GRCm39) K529* probably null Het
Col17a1 T A 19: 47,659,944 (GRCm39) D336V probably damaging Het
Creb3l4 A G 3: 90,146,045 (GRCm39) I193T possibly damaging Het
Cyp2d10 A T 15: 82,290,106 (GRCm39) probably null Het
Dcun1d3 A G 7: 119,457,158 (GRCm39) F185L probably damaging Het
Dlec1 G A 9: 118,959,085 (GRCm39) E910K probably benign Het
Dnajc19 T A 3: 34,112,161 (GRCm39) N128I probably damaging Het
Dusp1 A G 17: 26,727,293 (GRCm39) V2A probably benign Het
Eea1 G A 10: 95,830,861 (GRCm39) probably null Het
Elf1 T C 14: 79,798,215 (GRCm39) V34A probably damaging Het
Extl1 T C 4: 134,086,552 (GRCm39) D501G probably damaging Het
Fcgr2b T C 1: 170,788,650 (GRCm39) Y319C probably damaging Het
Fhip2a G A 19: 57,359,594 (GRCm39) A45T possibly damaging Het
Fxr2 A G 11: 69,539,710 (GRCm39) H247R possibly damaging Het
Gask1a A T 9: 121,807,452 (GRCm39) H532L probably damaging Het
Gfra1 A C 19: 58,226,849 (GRCm39) S461A possibly damaging Het
Gli2 T G 1: 118,769,666 (GRCm39) I629L probably damaging Het
Gpx3 G A 11: 54,800,422 (GRCm39) V207I probably damaging Het
Helz2 T C 2: 180,879,389 (GRCm39) D743G possibly damaging Het
Hormad2 A G 11: 4,359,005 (GRCm39) probably null Het
Ifitm1 C T 7: 140,548,263 (GRCm39) T32M probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lrit2 A G 14: 36,790,513 (GRCm39) N64S probably benign Het
Lsm14a A T 7: 34,052,982 (GRCm39) D322E probably damaging Het
Macf1 T G 4: 123,327,246 (GRCm39) R4752S probably damaging Het
Mark3 T C 12: 111,594,271 (GRCm39) I307T possibly damaging Het
Mpdz T A 4: 81,226,556 (GRCm39) T1360S probably benign Het
Mtif2 G A 11: 29,495,002 (GRCm39) V701I probably benign Het
Ncan A C 8: 70,560,819 (GRCm39) I716R probably benign Het
Ncor2 C T 5: 125,102,510 (GRCm39) R1867K probably damaging Het
Oas1d C T 5: 121,052,959 (GRCm39) L5F probably damaging Het
Or10s1 T A 9: 39,985,768 (GRCm39) L59H probably damaging Het
Or11h4b T A 14: 50,918,315 (GRCm39) M259L probably benign Het
Or13a17 T C 7: 140,271,712 (GRCm39) V298A probably damaging Het
Or3a4 A T 11: 73,945,038 (GRCm39) C182* probably null Het
Otog G T 7: 45,924,039 (GRCm39) A1133S probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd11 A G 19: 47,118,516 (GRCm39) D1794G probably damaging Het
Pde1c T C 6: 56,338,752 (GRCm39) I27V probably benign Het
Pde4d C A 13: 110,086,921 (GRCm39) S609* probably null Het
Piezo2 T A 18: 63,154,325 (GRCm39) I2485F probably damaging Het
Plekhd1 A G 12: 80,739,659 (GRCm39) T3A probably benign Het
Plscr1 C T 9: 92,141,357 (GRCm39) T15I unknown Het
Rd3 T C 1: 191,717,262 (GRCm39) *106R probably null Het
Rnf125 A G 18: 21,114,288 (GRCm39) I97V possibly damaging Het
Sec24b T C 3: 129,801,072 (GRCm39) N408S probably damaging Het
Sf3b3 G C 8: 111,564,935 (GRCm39) A291G probably damaging Het
Simc1 T C 13: 54,698,292 (GRCm39) V403A probably damaging Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Slco1a8 A G 6: 141,931,344 (GRCm39) S474P probably damaging Het
Slitrk5 A G 14: 111,917,821 (GRCm39) S482G probably benign Het
Smyd1 G A 6: 71,239,151 (GRCm39) T13I probably benign Het
Speer4a3 T A 5: 26,158,107 (GRCm39) T82S probably benign Het
Stoml2 T A 4: 43,028,197 (GRCm39) I344F probably benign Het
Tet1 C T 10: 62,650,300 (GRCm39) R1636H probably damaging Het
Thap12 A G 7: 98,366,037 (GRCm39) D735G probably damaging Het
Tnip3 T C 6: 65,574,413 (GRCm39) V88A probably benign Het
Ttn A G 2: 76,565,755 (GRCm39) V28199A possibly damaging Het
Ube3b T C 5: 114,556,636 (GRCm39) F989S probably damaging Het
Ubox5 A G 2: 130,442,210 (GRCm39) L159P probably damaging Het
Uevld A T 7: 46,587,758 (GRCm39) V314E possibly damaging Het
Urb1 T C 16: 90,566,354 (GRCm39) M1478V probably damaging Het
Ust C A 10: 8,173,954 (GRCm39) V184F possibly damaging Het
Wdr95 G A 5: 149,511,563 (GRCm39) C421Y probably damaging Het
Other mutations in Myh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Myh3 APN 11 66,981,681 (GRCm39) missense probably damaging 1.00
IGL01989:Myh3 APN 11 66,977,481 (GRCm39) missense probably damaging 1.00
IGL02097:Myh3 APN 11 66,973,750 (GRCm39) missense probably benign
IGL02197:Myh3 APN 11 66,989,409 (GRCm39) missense probably benign 0.05
IGL02458:Myh3 APN 11 66,987,766 (GRCm39) missense possibly damaging 0.87
IGL02526:Myh3 APN 11 66,978,371 (GRCm39) missense probably benign 0.01
IGL02559:Myh3 APN 11 66,991,921 (GRCm39) missense possibly damaging 0.94
IGL02600:Myh3 APN 11 66,974,227 (GRCm39) missense probably damaging 1.00
IGL02866:Myh3 APN 11 66,979,849 (GRCm39) missense probably benign 0.08
IGL02943:Myh3 APN 11 66,981,891 (GRCm39) missense probably benign 0.02
IGL03087:Myh3 APN 11 66,981,798 (GRCm39) missense probably damaging 1.00
IGL03131:Myh3 APN 11 66,981,935 (GRCm39) splice site probably benign
bud UTSW 11 66,986,833 (GRCm39) critical splice acceptor site probably null
R0049:Myh3 UTSW 11 66,990,498 (GRCm39) missense probably damaging 1.00
R0157:Myh3 UTSW 11 66,973,735 (GRCm39) missense probably benign 0.00
R0266:Myh3 UTSW 11 66,984,498 (GRCm39) missense possibly damaging 0.73
R0352:Myh3 UTSW 11 66,981,254 (GRCm39) missense possibly damaging 0.79
R0391:Myh3 UTSW 11 66,987,333 (GRCm39) splice site probably benign
R0926:Myh3 UTSW 11 66,981,340 (GRCm39) splice site probably null
R1243:Myh3 UTSW 11 66,981,279 (GRCm39) missense possibly damaging 0.80
R1414:Myh3 UTSW 11 66,989,491 (GRCm39) missense probably damaging 0.98
R1442:Myh3 UTSW 11 66,978,103 (GRCm39) missense possibly damaging 0.77
R1470:Myh3 UTSW 11 66,988,885 (GRCm39) splice site probably benign
R1480:Myh3 UTSW 11 66,984,371 (GRCm39) missense possibly damaging 0.88
R1598:Myh3 UTSW 11 66,983,997 (GRCm39) missense probably damaging 1.00
R1620:Myh3 UTSW 11 66,979,562 (GRCm39) splice site probably benign
R1682:Myh3 UTSW 11 66,979,891 (GRCm39) missense probably damaging 1.00
R1759:Myh3 UTSW 11 66,987,717 (GRCm39) missense probably damaging 0.98
R1772:Myh3 UTSW 11 66,990,220 (GRCm39) missense probably benign 0.32
R1868:Myh3 UTSW 11 66,975,852 (GRCm39) missense probably benign 0.34
R1874:Myh3 UTSW 11 66,984,005 (GRCm39) missense probably benign 0.03
R1885:Myh3 UTSW 11 66,977,453 (GRCm39) missense probably benign 0.23
R1923:Myh3 UTSW 11 66,970,828 (GRCm39) missense probably benign 0.00
R2145:Myh3 UTSW 11 66,981,882 (GRCm39) missense probably benign
R3973:Myh3 UTSW 11 66,987,262 (GRCm39) nonsense probably null
R4410:Myh3 UTSW 11 66,975,858 (GRCm39) missense possibly damaging 0.71
R4583:Myh3 UTSW 11 66,987,279 (GRCm39) nonsense probably null
R4650:Myh3 UTSW 11 66,977,270 (GRCm39) missense probably damaging 1.00
R4822:Myh3 UTSW 11 66,979,836 (GRCm39) missense probably benign
R4836:Myh3 UTSW 11 66,987,765 (GRCm39) missense probably benign 0.01
R4898:Myh3 UTSW 11 66,990,233 (GRCm39) missense probably benign 0.05
R4946:Myh3 UTSW 11 66,984,364 (GRCm39) missense probably benign
R5506:Myh3 UTSW 11 66,974,915 (GRCm39) missense probably damaging 1.00
R5534:Myh3 UTSW 11 66,987,870 (GRCm39) missense probably damaging 1.00
R5733:Myh3 UTSW 11 66,979,445 (GRCm39) missense probably benign 0.24
R5889:Myh3 UTSW 11 66,977,201 (GRCm39) missense probably damaging 1.00
R6056:Myh3 UTSW 11 66,978,371 (GRCm39) missense probably benign 0.01
R6223:Myh3 UTSW 11 66,988,843 (GRCm39) missense probably benign
R6228:Myh3 UTSW 11 66,978,312 (GRCm39) missense probably benign 0.17
R6341:Myh3 UTSW 11 66,973,822 (GRCm39) missense probably benign 0.00
R6434:Myh3 UTSW 11 66,973,193 (GRCm39) missense probably damaging 1.00
R6533:Myh3 UTSW 11 66,981,245 (GRCm39) missense probably damaging 0.96
R6812:Myh3 UTSW 11 66,977,228 (GRCm39) missense probably damaging 0.99
R7336:Myh3 UTSW 11 66,981,847 (GRCm39) missense probably benign 0.13
R7354:Myh3 UTSW 11 66,987,708 (GRCm39) missense probably damaging 1.00
R7498:Myh3 UTSW 11 66,987,874 (GRCm39) missense possibly damaging 0.96
R7532:Myh3 UTSW 11 66,981,921 (GRCm39) missense probably benign
R7841:Myh3 UTSW 11 66,989,518 (GRCm39) missense probably damaging 1.00
R7878:Myh3 UTSW 11 66,978,077 (GRCm39) missense probably damaging 1.00
R8169:Myh3 UTSW 11 66,979,856 (GRCm39) missense probably benign 0.06
R8194:Myh3 UTSW 11 66,982,828 (GRCm39) missense probably damaging 1.00
R8215:Myh3 UTSW 11 66,992,005 (GRCm39) missense probably damaging 0.99
R8240:Myh3 UTSW 11 66,983,196 (GRCm39) missense probably benign 0.01
R8255:Myh3 UTSW 11 66,985,848 (GRCm39) missense probably damaging 1.00
R8310:Myh3 UTSW 11 66,986,833 (GRCm39) critical splice acceptor site probably null
R9103:Myh3 UTSW 11 66,989,451 (GRCm39) missense probably benign 0.01
R9249:Myh3 UTSW 11 66,975,855 (GRCm39) missense probably benign 0.12
R9307:Myh3 UTSW 11 66,984,397 (GRCm39) missense possibly damaging 0.57
R9430:Myh3 UTSW 11 66,982,726 (GRCm39) missense possibly damaging 0.94
R9529:Myh3 UTSW 11 66,979,556 (GRCm39) critical splice donor site probably null
R9558:Myh3 UTSW 11 66,983,316 (GRCm39) missense possibly damaging 0.89
R9565:Myh3 UTSW 11 66,983,187 (GRCm39) nonsense probably null
R9691:Myh3 UTSW 11 66,991,921 (GRCm39) missense possibly damaging 0.94
R9790:Myh3 UTSW 11 66,992,005 (GRCm39) missense probably damaging 0.99
R9791:Myh3 UTSW 11 66,992,005 (GRCm39) missense probably damaging 0.99
RF009:Myh3 UTSW 11 66,977,183 (GRCm39) frame shift probably null
RF009:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
RF009:Myh3 UTSW 11 66,977,181 (GRCm39) frame shift probably null
RF010:Myh3 UTSW 11 66,977,185 (GRCm39) frame shift probably null
RF010:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
RF013:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
RF015:Myh3 UTSW 11 66,977,182 (GRCm39) frame shift probably null
X0060:Myh3 UTSW 11 66,985,824 (GRCm39) missense probably benign 0.00
X0062:Myh3 UTSW 11 66,979,942 (GRCm39) missense probably benign 0.03
Z1176:Myh3 UTSW 11 66,973,241 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ACCTGCAACTTCAAGTACAGGCTG -3'
(R):5'- AGCGAGTACCTTGTTCTCTGTGGC -3'

Sequencing Primer
(F):5'- CAACTTCAAGTACAGGCTGTATGTC -3'
(R):5'- AGTGTCAGCTCAAGGTCATC -3'
Posted On 2014-05-23