Incidental Mutation 'R8169:Myh3'
ID 633986
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 067595-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R8169 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 66979856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 598 (N598K)
Ref Sequence ENSEMBL: ENSMUSP00000007301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
AlphaFold P13541
Predicted Effect probably benign
Transcript: ENSMUST00000007301
AA Change: N598K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: N598K

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: N598K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: N598K

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: N598K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: N598K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (80/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik C A 5: 139,349,812 (GRCm39) G79V probably damaging Het
4930562C15Rik T A 16: 4,684,082 (GRCm39) Y226N probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Bach1 G A 16: 87,519,390 (GRCm39) C560Y possibly damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Casq2 G T 3: 102,017,628 (GRCm39) A103S possibly damaging Het
Cfap100 A G 6: 90,394,656 (GRCm39) F57S Het
Clca3a2 A T 3: 144,783,653 (GRCm39) L654Q probably damaging Het
Cntnap5c T A 17: 58,411,765 (GRCm39) probably null Het
Cplane2 A G 4: 140,945,530 (GRCm39) H127R probably damaging Het
Crtc2 G C 3: 90,170,883 (GRCm39) G652A probably damaging Het
Csnk1g2 A G 10: 80,475,636 (GRCm39) D401G probably damaging Het
Dars1 T C 1: 128,304,002 (GRCm39) N242D probably null Het
Dnah10 T C 5: 124,877,946 (GRCm39) L2677P probably damaging Het
Dnal1 G A 12: 84,171,330 (GRCm39) A3T probably benign Het
Dpep2 C T 8: 106,722,849 (GRCm39) V60I Het
Eeig1 T C 2: 32,453,760 (GRCm39) I203T probably benign Het
Ehmt2 T A 17: 35,122,339 (GRCm39) I302N probably benign Het
Eif3a C T 19: 60,750,628 (GRCm39) R1309Q unknown Het
Eno4 T A 19: 58,935,084 (GRCm39) Y100N probably benign Het
Ephx2 A T 14: 66,349,602 (GRCm39) probably null Het
Fbxw14 A T 9: 109,106,284 (GRCm39) I251K probably benign Het
Fcgbp T C 7: 27,784,919 (GRCm39) probably null Het
Foxm1 A C 6: 128,348,671 (GRCm39) probably null Het
Fscn3 T A 6: 28,430,328 (GRCm39) I166N possibly damaging Het
Gdpd4 G T 7: 97,621,335 (GRCm39) V193L probably benign Het
Gnpat T G 8: 125,606,869 (GRCm39) C352G probably benign Het
H2-Q7 T A 17: 35,658,910 (GRCm39) Y120* probably null Het
Klri1 G A 6: 129,694,070 (GRCm39) R6C probably benign Het
Kmo T C 1: 175,476,729 (GRCm39) V154A probably benign Het
Kmt2c A G 5: 25,559,685 (GRCm39) L1031P probably damaging Het
Lrrc14b T G 13: 74,511,286 (GRCm39) T265P possibly damaging Het
Lrrc2 C T 9: 110,809,954 (GRCm39) T330I probably benign Het
Lyn T A 4: 3,783,050 (GRCm39) S428T probably damaging Het
Lypd10 T A 7: 24,412,000 (GRCm39) M60K probably benign Het
Mfsd8 T A 3: 40,791,550 (GRCm39) M59L probably benign Het
Mok T A 12: 110,774,799 (GRCm39) Q341L probably benign Het
Muc21 T C 17: 35,932,072 (GRCm39) T705A unknown Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp4e A G 7: 23,019,931 (GRCm39) I139M probably benign Het
Or11g25 T C 14: 50,723,692 (GRCm39) V259A probably benign Het
Or3a10 T A 11: 73,935,707 (GRCm39) Q131L possibly damaging Het
Or4b13 G A 2: 90,082,442 (GRCm39) R297* probably null Het
Or51g2 A G 7: 102,622,545 (GRCm39) L218P probably damaging Het
Or52n2b A T 7: 104,565,619 (GRCm39) Y295N possibly damaging Het
Osbpl7 G A 11: 96,945,676 (GRCm39) S312N probably damaging Het
Paxip1 A G 5: 27,977,093 (GRCm39) L323P unknown Het
Pcdh18 T A 3: 49,699,684 (GRCm39) H926L probably damaging Het
Pcm1 T G 8: 41,763,153 (GRCm39) S1460R possibly damaging Het
Pdha2 A G 3: 140,917,155 (GRCm39) S118P possibly damaging Het
Pdss1 A T 2: 22,791,824 (GRCm39) Y86F probably benign Het
Ppargc1a A T 5: 51,631,026 (GRCm39) D534E probably benign Het
Prune2 A G 19: 17,102,455 (GRCm39) K2538R probably benign Het
Ptprq A T 10: 107,418,351 (GRCm39) I1675N probably damaging Het
Rgma C T 7: 73,025,630 (GRCm39) P3L probably benign Het
Ros1 A G 10: 51,940,768 (GRCm39) probably null Het
Sema4g C T 19: 44,987,410 (GRCm39) R519W probably damaging Het
Serpinc1 T A 1: 160,820,971 (GRCm39) F139L probably damaging Het
Slc22a29 A G 19: 8,184,696 (GRCm39) I198T probably damaging Het
Slc4a5 T C 6: 83,280,373 (GRCm39) V1007A probably benign Het
Sptbn1 T C 11: 30,147,783 (GRCm39) Y17C possibly damaging Het
Tex261 C A 6: 83,751,999 (GRCm39) probably null Het
Timmdc1 T A 16: 38,331,148 (GRCm39) T128S probably benign Het
Tmem120b C A 5: 123,237,999 (GRCm39) Y96* probably null Het
Tmem196 T A 12: 119,982,311 (GRCm39) F182I possibly damaging Het
Tnxb G A 17: 34,918,181 (GRCm39) V2365M possibly damaging Het
Tph1 T C 7: 46,303,233 (GRCm39) silent Het
Trmt9b A T 8: 36,978,857 (GRCm39) K153N probably damaging Het
Trpc1 G A 9: 95,592,323 (GRCm39) Q551* probably null Het
Tubgcp3 T C 8: 12,666,099 (GRCm39) N828D probably benign Het
Unc13a C A 8: 72,108,933 (GRCm39) G478W probably damaging Het
Usp15 T A 10: 122,961,798 (GRCm39) T627S Het
Vmn1r115 A T 7: 20,578,144 (GRCm39) I256N probably damaging Het
Vmn2r6 T A 3: 64,447,310 (GRCm39) K585N probably benign Het
Vsir G T 10: 60,194,047 (GRCm39) probably null Het
Xirp2 A G 2: 67,343,543 (GRCm39) D1928G probably benign Het
Xylt1 A G 7: 117,249,846 (GRCm39) Y672C probably damaging Het
Yrdc A G 4: 124,744,880 (GRCm39) S105G probably benign Het
Zfc3h1 T A 10: 115,254,616 (GRCm39) N1403K probably damaging Het
Zfp160 A T 17: 21,247,298 (GRCm39) H616L probably damaging Het
Zfp637 T A 6: 117,822,252 (GRCm39) F127I probably damaging Het
Zfp69 G T 4: 120,787,731 (GRCm39) A528D probably damaging Het
Zpr1 T A 9: 46,189,645 (GRCm39) L342Q possibly 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
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
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'- TGCCTTCAATCCAGCCGATG -3'
(R):5'- ATGTATCGAGACTTTTGCATGCTG -3'

Sequencing Primer
(F):5'- AGGAGTGCATGTTCCCCAAG -3'
(R):5'- AGACTTTTGCATGCTGTGGGAAAG -3'
Posted On 2020-07-13