Incidental Mutation 'R0157:Myh3'
ID 22930
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 038437-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R0157 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66973735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 136 (N136S)
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: N136S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: N136S

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: N136S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: N136S

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: N136S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: N136S

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
Meta Mutation Damage Score 0.0601 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.5%
Validation Efficiency 64% (47/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T A 11: 80,056,527 (GRCm39) I180N probably damaging Het
Alk T A 17: 72,256,840 (GRCm39) N673I probably benign Het
Ankrd7 T C 6: 18,866,539 (GRCm39) S20P probably damaging Het
Arhgef26 T G 3: 62,288,392 (GRCm39) D487E probably damaging Het
Arhgef4 A G 1: 34,845,475 (GRCm39) D1500G probably damaging Het
Arhgef7 A G 8: 11,835,812 (GRCm39) I39V probably damaging Het
Asap2 T A 12: 21,256,326 (GRCm39) I208N probably damaging Het
Atad5 T C 11: 79,980,643 (GRCm39) V16A possibly damaging Het
Atp2b1 T C 10: 98,835,809 (GRCm39) I518T probably damaging Het
B130006D01Rik T C 11: 95,617,211 (GRCm39) probably benign Het
BC028528 A G 3: 95,792,280 (GRCm39) probably null Het
Bpifb6 T A 2: 153,745,886 (GRCm39) L74Q probably benign Het
Bptf T C 11: 106,965,484 (GRCm39) T1122A possibly damaging Het
Cacna2d4 T A 6: 119,289,385 (GRCm39) D806E probably benign Het
Cdhr3 T C 12: 33,111,649 (GRCm39) Q287R possibly damaging Het
Cdk12 A G 11: 98,140,602 (GRCm39) probably benign Het
Cenpf T A 1: 189,384,556 (GRCm39) T2575S probably benign Het
Chd7 T A 4: 8,833,759 (GRCm39) I1171N probably damaging Het
Chd9 T C 8: 91,735,464 (GRCm39) probably null Het
Ckmt1 A G 2: 121,193,522 (GRCm39) T361A possibly damaging Het
Clec4d G T 6: 123,244,095 (GRCm39) R68L probably benign Het
Csmd2 G T 4: 128,415,704 (GRCm39) V2678F probably benign Het
Cul7 T A 17: 46,964,761 (GRCm39) V131E possibly damaging Het
Dab2 T C 15: 6,459,308 (GRCm39) S407P probably benign Het
Dnah17 C T 11: 118,017,997 (GRCm39) G166D probably benign Het
F13b G A 1: 139,431,585 (GRCm39) V52I probably benign Het
Gjd4 T C 18: 9,280,549 (GRCm39) I176M probably benign Het
Hoxc11 A G 15: 102,863,436 (GRCm39) Y159C probably damaging Het
Hydin T C 8: 111,026,642 (GRCm39) I120T possibly damaging Het
Il20rb A G 9: 100,355,132 (GRCm39) Y104H probably damaging Het
Krtap21-1 A G 16: 89,200,430 (GRCm39) C71R unknown Het
Lamc1 T C 1: 153,138,353 (GRCm39) D167G probably benign Het
Lin7c C A 2: 109,725,514 (GRCm39) A73E probably damaging Het
Meiosin T C 7: 18,840,945 (GRCm39) H63R possibly damaging Het
Mms22l C A 4: 24,588,224 (GRCm39) A952E probably damaging Het
Ndufb10 T C 17: 24,943,218 (GRCm39) T31A probably benign Het
Nlrp2 T C 7: 5,311,769 (GRCm39) Y37C possibly damaging Het
Or2t44 T C 11: 58,677,885 (GRCm39) F275S probably damaging Het
Or2y14 T C 11: 49,404,600 (GRCm39) I45T probably damaging Het
Orc3 C A 4: 34,607,130 (GRCm39) probably null Het
Pard3b A C 1: 62,250,792 (GRCm39) M512L probably damaging Het
Pcdh10 A G 3: 45,334,136 (GRCm39) D150G probably damaging Het
Pcolce A T 5: 137,608,741 (GRCm39) probably null Het
Pdcl A C 2: 37,242,189 (GRCm39) I187S probably damaging Het
Pkn1 T C 8: 84,419,449 (GRCm39) I51M probably damaging Het
Pla2g4e T A 2: 120,000,662 (GRCm39) T692S probably benign Het
Plcb2 C A 2: 118,549,022 (GRCm39) V380F probably damaging Het
Pmpcb A T 5: 21,947,950 (GRCm39) I218F probably damaging Het
Pms1 A T 1: 53,234,196 (GRCm39) Y773* probably null Het
Polr2e C T 10: 79,872,615 (GRCm39) G184R probably damaging Het
Polr3a T C 14: 24,529,254 (GRCm39) I369V probably damaging Het
Pramel21 C T 4: 143,342,366 (GRCm39) P158S probably damaging Het
Prpf4b T C 13: 35,068,014 (GRCm39) probably benign Het
Pzp G A 6: 128,500,939 (GRCm39) Q140* probably null Het
Qrich2 T A 11: 116,332,221 (GRCm39) E2325V probably damaging Het
R3hdm2 T G 10: 127,307,858 (GRCm39) L373R probably damaging Het
Sema3d A T 5: 12,558,104 (GRCm39) D212V possibly damaging Het
Sidt2 A G 9: 45,850,565 (GRCm39) I850T probably damaging Het
Slc22a29 C T 19: 8,140,106 (GRCm39) R433H possibly damaging Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sox21 G A 14: 118,473,354 (GRCm39) probably benign Het
Steap3 A G 1: 120,155,379 (GRCm39) *527R probably null Het
Svep1 T C 4: 58,069,830 (GRCm39) E2652G possibly damaging Het
Taar2 T A 10: 23,817,389 (GRCm39) F310I probably damaging Het
Tasor2 C A 13: 3,625,550 (GRCm39) V1467L probably benign Het
Tecta A G 9: 42,286,307 (GRCm39) V783A probably benign Het
Vmn1r173 T A 7: 23,401,822 (GRCm39) I19N probably damaging Het
Vwa5b1 T A 4: 138,332,190 (GRCm39) M276L probably benign Het
Yeats2 A C 16: 20,040,427 (GRCm39) *142C probably null Het
Zfp26 G T 9: 20,349,166 (GRCm39) T466K probably benign Het
Zfp426 T C 9: 20,382,432 (GRCm39) N171S probably benign 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
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
R1344:Myh3 UTSW 11 66,983,158 (GRCm39) missense probably benign 0.03
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'- TGGCTACTACCCAACAGGCTATGC -3'
(R):5'- ACCTCCGAGATGGTCAGTCTTTGC -3'

Sequencing Primer
(F):5'- agaaaggggggaagtggag -3'
(R):5'- TAAGAATACGCTCTCCTATGGC -3'
Posted On 2013-04-16