Incidental Mutation 'RF013:Myh3'
ID 603353
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # RF013 (G1)
Quality Score 217.468
Status Not validated
Chromosome 11
Chromosomal Location 67078300-67102291 bp(+) (GRCm38)
Type of Mutation frame shift
DNA Base Change (assembly) ATTAC to ATTACTTAC at 67086356 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
AlphaFold P13541
Predicted Effect probably null
Transcript: ENSMUST00000007301
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908

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 null
Transcript: ENSMUST00000108689
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908

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 null
Transcript: ENSMUST00000165221
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,905,096 (GRCm38) probably benign Het
Adamts9 A G 6: 92,943,145 (GRCm38) V4A possibly damaging Het
AI837181 GGC GGCTGC 19: 5,425,232 (GRCm38) probably benign Het
Alk A G 17: 71,895,936 (GRCm38) Y1135H probably damaging Het
Ankhd1 CGGCGG CGGCGGAGGCGG 18: 36,560,926 (GRCm38) probably benign Het
Ano3 A C 2: 110,697,036 (GRCm38) L609R probably benign Het
Bicc1 A G 10: 70,935,830 (GRCm38) probably null Het
Bltp1 TTAT TTATTATTATTATTAGTAT 3: 37,050,757 (GRCm38) probably benign Het
Card6 T C 15: 5,100,142 (GRCm38) I591V probably benign Het
Ccdc121rt2 T A 5: 112,450,071 (GRCm38) N161K probably benign Het
Ccdc18 A G 5: 108,220,716 (GRCm38) N1235D probably benign Het
Cd109 TTAT TTATTTATTTATCTAT 9: 78,712,531 (GRCm38) probably benign Het
Cnpy3 CCT CCTGCT 17: 46,736,744 (GRCm38) probably benign Het
Col6a5 GCAGTC GCAGTCTCCAGTC 9: 105,878,597 (GRCm38) probably null Het
Cyb5r4 GACACACTGCCCAGGGA GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA 9: 87,040,432 (GRCm38) probably benign Het
Cyp8b1 A T 9: 121,915,495 (GRCm38) M257K possibly damaging Het
Dbf4 A T 5: 8,397,985 (GRCm38) H408Q possibly damaging Het
Defb22 TTGCGGCA TTGCGGCAGAGCTGGCCTGTGCGGCA 2: 152,485,831 (GRCm38) probably benign Het
Ercc6l2 A T 13: 63,853,017 (GRCm38) T417S probably benign Het
Exd2 AGCCACAG A 12: 80,475,932 (GRCm38) probably null Het
Fam171b GC GCAGCATC 2: 83,812,895 (GRCm38) probably benign Het
Flvcr2 T A 12: 85,747,186 (GRCm38) L112Q probably damaging Het
Flywch1 GTG GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG 17: 23,762,175 (GRCm38) probably null Het
Gabre TCAGGCTCAGGCT TCAGGCTCAGGCTCAGGCT X: 72,270,416 (GRCm38) probably benign Het
Garin5a CCTGGGTCTGAGGGAGGA CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA 7: 44,500,520 (GRCm38) probably null Het
Gm4884 C A 7: 41,040,809 (GRCm38) P43Q probably damaging Het
Grm8 A G 6: 27,363,780 (GRCm38) W579R probably damaging Het
Hsdl2 AG AGCAGCAGCCACAGCTGCCG 4: 59,610,657 (GRCm38) probably benign Het
Ivl CTGCTGCTGCTGCTGT C 3: 92,572,343 (GRCm38) probably benign Het
Kif18b T C 11: 102,912,366 (GRCm38) D506G probably benign Het
Krtap28-10 AGCCAC AGCCACGGCCAC 1: 83,042,135 (GRCm38) probably benign Het
Krtap28-10 GCCACAGCCACCACA GCCACAGCCACCACATCCACAGCCACCACA 1: 83,042,274 (GRCm38) probably benign Het
Lama1 C A 17: 67,781,062 (GRCm38) S1558R Het
Lcmt1 C CCGCGGGGCTT 7: 123,369,836 (GRCm38) probably null Het
Lmna A G 3: 88,484,054 (GRCm38) V494A probably benign Het
Mapk6 CCAC CCACCTCAC 9: 75,388,260 (GRCm38) probably null Het
Mboat7 T A 7: 3,691,857 (GRCm38) H52L probably damaging Het
Med12l CAG CAGAAG 3: 59,275,966 (GRCm38) probably benign Het
Morc2a T A 11: 3,676,191 (GRCm38) M225K probably benign Het
Mpdz G A 4: 81,293,592 (GRCm38) A1566V possibly damaging Het
Mpi T C 9: 57,548,641 (GRCm38) D186G probably benign Het
Mtmr12 C A 15: 12,261,898 (GRCm38) N386K probably damaging Het
Myo10 T A 15: 25,799,479 (GRCm38) M1376K probably damaging Het
Nbas C T 12: 13,279,408 (GRCm38) T118I possibly damaging Het
Nedd4l C T 18: 65,209,680 (GRCm38) R755C probably damaging Het
Nefh GACTTGGCCTCACCTGGG GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG 11: 4,941,032 (GRCm38) probably benign Het
Numa1 T C 7: 101,999,780 (GRCm38) L906P probably damaging Het
Or6s1 G A 14: 51,071,012 (GRCm38) A127V probably damaging Het
Or7h8 T C 9: 20,212,894 (GRCm38) S182P probably benign Het
Otop2 G T 11: 115,323,666 (GRCm38) R83L probably benign Het
Pmm1 T A 15: 81,957,813 (GRCm38) Q62L probably damaging Het
Pramel16 C G 4: 143,948,908 (GRCm38) Q449H probably damaging Het
Ptprj A T 2: 90,471,170 (GRCm38) L206* probably null Het
Rassf6 TC TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC 5: 90,608,941 (GRCm38) probably benign Het
Rps19 A AGAAAAT 7: 24,889,180 (GRCm38) probably benign Het
Rsrp1 T A 4: 134,923,955 (GRCm38) V10E unknown Het
Sh2d6 C T 6: 72,516,388 (GRCm38) probably null Het
Six4 TG T 12: 73,103,582 (GRCm38) probably null Het
Slc6a15 T A 10: 103,400,216 (GRCm38) V264D probably damaging Het
Snapc5 ATGGAAGAAGAGG A 9: 64,182,211 (GRCm38) probably benign Het
Sost A T 11: 101,964,132 (GRCm38) I117N probably damaging Het
Spmip5 A G 19: 58,789,294 (GRCm38) F28S probably damaging Het
Tbc1d22a AGGTGTGTG A 15: 86,299,774 (GRCm38) probably null Het
Tcaf1 C T 6: 42,679,173 (GRCm38) V290I probably benign Het
Tcof1 GCA GCACCA 18: 60,835,743 (GRCm38) probably benign Het
Tex55 T C 16: 38,828,001 (GRCm38) T249A probably benign Het
Tgfbr1 A G 4: 47,353,354 (GRCm38) I15V unknown Het
Tmem241 A T 18: 11,983,561 (GRCm38) L288Q probably damaging Het
Tnfrsf13b T G 11: 61,141,444 (GRCm38) V100G probably benign Het
Trim66 A G 7: 109,460,753 (GRCm38) S809P probably damaging Het
Tubb4a C G 17: 57,087,464 (GRCm38) G17A possibly damaging Het
Txndc16 A G 14: 45,169,338 (GRCm38) V220A probably benign Het
Zan T A 5: 137,391,720 (GRCm38) Q4830L unknown Het
Other mutations in Myh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Myh3 APN 11 67,090,855 (GRCm38) missense probably damaging 1.00
IGL01989:Myh3 APN 11 67,086,655 (GRCm38) missense probably damaging 1.00
IGL02097:Myh3 APN 11 67,082,924 (GRCm38) missense probably benign
IGL02197:Myh3 APN 11 67,098,583 (GRCm38) missense probably benign 0.05
IGL02458:Myh3 APN 11 67,096,940 (GRCm38) missense possibly damaging 0.87
IGL02526:Myh3 APN 11 67,087,545 (GRCm38) missense probably benign 0.01
IGL02559:Myh3 APN 11 67,101,095 (GRCm38) missense possibly damaging 0.94
IGL02600:Myh3 APN 11 67,083,401 (GRCm38) missense probably damaging 1.00
IGL02866:Myh3 APN 11 67,089,023 (GRCm38) missense probably benign 0.08
IGL02943:Myh3 APN 11 67,091,065 (GRCm38) missense probably benign 0.02
IGL03087:Myh3 APN 11 67,090,972 (GRCm38) missense probably damaging 1.00
IGL03131:Myh3 APN 11 67,091,109 (GRCm38) splice site probably benign
bud UTSW 11 67,096,007 (GRCm38) critical splice acceptor site probably null
R0049:Myh3 UTSW 11 67,099,672 (GRCm38) missense probably damaging 1.00
R0157:Myh3 UTSW 11 67,082,909 (GRCm38) missense probably benign 0.00
R0266:Myh3 UTSW 11 67,093,672 (GRCm38) missense possibly damaging 0.73
R0352:Myh3 UTSW 11 67,090,428 (GRCm38) missense possibly damaging 0.79
R0391:Myh3 UTSW 11 67,096,507 (GRCm38) splice site probably benign
R0926:Myh3 UTSW 11 67,090,514 (GRCm38) splice site probably null
R1243:Myh3 UTSW 11 67,090,453 (GRCm38) missense possibly damaging 0.80
R1344:Myh3 UTSW 11 67,092,332 (GRCm38) missense probably benign 0.03
R1414:Myh3 UTSW 11 67,098,665 (GRCm38) missense probably damaging 0.98
R1442:Myh3 UTSW 11 67,087,277 (GRCm38) missense possibly damaging 0.77
R1470:Myh3 UTSW 11 67,098,059 (GRCm38) splice site probably benign
R1480:Myh3 UTSW 11 67,093,545 (GRCm38) missense possibly damaging 0.88
R1598:Myh3 UTSW 11 67,093,171 (GRCm38) missense probably damaging 1.00
R1620:Myh3 UTSW 11 67,088,736 (GRCm38) splice site probably benign
R1682:Myh3 UTSW 11 67,089,065 (GRCm38) missense probably damaging 1.00
R1759:Myh3 UTSW 11 67,096,891 (GRCm38) missense probably damaging 0.98
R1772:Myh3 UTSW 11 67,099,394 (GRCm38) missense probably benign 0.32
R1868:Myh3 UTSW 11 67,085,026 (GRCm38) missense probably benign 0.34
R1874:Myh3 UTSW 11 67,093,179 (GRCm38) missense probably benign 0.03
R1885:Myh3 UTSW 11 67,086,627 (GRCm38) missense probably benign 0.23
R1923:Myh3 UTSW 11 67,080,002 (GRCm38) missense probably benign 0.00
R2145:Myh3 UTSW 11 67,091,056 (GRCm38) missense probably benign
R3973:Myh3 UTSW 11 67,096,436 (GRCm38) nonsense probably null
R4410:Myh3 UTSW 11 67,085,032 (GRCm38) missense possibly damaging 0.71
R4583:Myh3 UTSW 11 67,096,453 (GRCm38) nonsense probably null
R4650:Myh3 UTSW 11 67,086,444 (GRCm38) missense probably damaging 1.00
R4822:Myh3 UTSW 11 67,089,010 (GRCm38) missense probably benign
R4836:Myh3 UTSW 11 67,096,939 (GRCm38) missense probably benign 0.01
R4898:Myh3 UTSW 11 67,099,407 (GRCm38) missense probably benign 0.05
R4946:Myh3 UTSW 11 67,093,538 (GRCm38) missense probably benign
R5506:Myh3 UTSW 11 67,084,089 (GRCm38) missense probably damaging 1.00
R5534:Myh3 UTSW 11 67,097,044 (GRCm38) missense probably damaging 1.00
R5733:Myh3 UTSW 11 67,088,619 (GRCm38) missense probably benign 0.24
R5889:Myh3 UTSW 11 67,086,375 (GRCm38) missense probably damaging 1.00
R6056:Myh3 UTSW 11 67,087,545 (GRCm38) missense probably benign 0.01
R6223:Myh3 UTSW 11 67,098,017 (GRCm38) missense probably benign
R6228:Myh3 UTSW 11 67,087,486 (GRCm38) missense probably benign 0.17
R6341:Myh3 UTSW 11 67,082,996 (GRCm38) missense probably benign 0.00
R6434:Myh3 UTSW 11 67,082,367 (GRCm38) missense probably damaging 1.00
R6533:Myh3 UTSW 11 67,090,419 (GRCm38) missense probably damaging 0.96
R6812:Myh3 UTSW 11 67,086,402 (GRCm38) missense probably damaging 0.99
R7336:Myh3 UTSW 11 67,091,021 (GRCm38) missense probably benign 0.13
R7354:Myh3 UTSW 11 67,096,882 (GRCm38) missense probably damaging 1.00
R7498:Myh3 UTSW 11 67,097,048 (GRCm38) missense possibly damaging 0.96
R7532:Myh3 UTSW 11 67,091,095 (GRCm38) missense probably benign
R7841:Myh3 UTSW 11 67,098,692 (GRCm38) missense probably damaging 1.00
R7878:Myh3 UTSW 11 67,087,251 (GRCm38) missense probably damaging 1.00
R8169:Myh3 UTSW 11 67,089,030 (GRCm38) missense probably benign 0.06
R8194:Myh3 UTSW 11 67,092,002 (GRCm38) missense probably damaging 1.00
R8215:Myh3 UTSW 11 67,101,179 (GRCm38) missense probably damaging 0.99
R8240:Myh3 UTSW 11 67,092,370 (GRCm38) missense probably benign 0.01
R8255:Myh3 UTSW 11 67,095,022 (GRCm38) missense probably damaging 1.00
R8310:Myh3 UTSW 11 67,096,007 (GRCm38) critical splice acceptor site probably null
R9103:Myh3 UTSW 11 67,098,625 (GRCm38) missense probably benign 0.01
R9249:Myh3 UTSW 11 67,085,029 (GRCm38) missense probably benign 0.12
R9307:Myh3 UTSW 11 67,093,571 (GRCm38) missense possibly damaging 0.57
R9430:Myh3 UTSW 11 67,091,900 (GRCm38) missense possibly damaging 0.94
R9529:Myh3 UTSW 11 67,088,730 (GRCm38) critical splice donor site probably null
R9558:Myh3 UTSW 11 67,092,490 (GRCm38) missense possibly damaging 0.89
R9565:Myh3 UTSW 11 67,092,361 (GRCm38) nonsense probably null
R9691:Myh3 UTSW 11 67,101,095 (GRCm38) missense possibly damaging 0.94
R9790:Myh3 UTSW 11 67,101,179 (GRCm38) missense probably damaging 0.99
R9791:Myh3 UTSW 11 67,101,179 (GRCm38) missense probably damaging 0.99
RF009:Myh3 UTSW 11 67,086,357 (GRCm38) frame shift probably null
RF009:Myh3 UTSW 11 67,086,356 (GRCm38) frame shift probably null
RF009:Myh3 UTSW 11 67,086,355 (GRCm38) frame shift probably null
RF010:Myh3 UTSW 11 67,086,359 (GRCm38) frame shift probably null
RF010:Myh3 UTSW 11 67,086,356 (GRCm38) frame shift probably null
RF015:Myh3 UTSW 11 67,086,356 (GRCm38) frame shift probably null
X0060:Myh3 UTSW 11 67,094,998 (GRCm38) missense probably benign 0.00
X0062:Myh3 UTSW 11 67,089,116 (GRCm38) missense probably benign 0.03
Z1176:Myh3 UTSW 11 67,082,415 (GRCm38) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- AGACTGCAGTTTCCCTTAGC -3'
(R):5'- GCAATGGAAAGAACAGCTTGTC -3'

Sequencing Primer
(F):5'- AATGCTGGGACCCTTTAATACGG -3'
(R):5'- GGAAAGAACAGCTTGTCTGCCC -3'
Posted On 2019-12-04