Incidental Mutation 'RF009:Myh3'
ID 603071
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: 0.556) question?
Stock # RF009 (G1)
Quality Score 217.468
Status Not validated
Chromosome 11
Chromosomal Location 66969126-66993117 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GATTA to GATTAATTA at 66977181 bp (GRCm39)
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: 99.3%
  • 20x: 98.5%
Validation Efficiency 96% (53/55)
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
6030445D17Rik ACACACACCCGC AC 4: 136,189,661 (GRCm39) probably null Het
AI182371 A G 2: 34,979,209 (GRCm39) V153A possibly damaging Het
AI837181 CGG CGGTGG 19: 5,475,262 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,975 (GRCm39) probably benign Het
Apoc2 C T 7: 19,405,767 (GRCm39) M71I probably benign Het
Arhgap17 CTGTTGTTG CTGTTG 7: 122,886,085 (GRCm39) probably benign Het
Atrn C A 2: 130,748,842 (GRCm39) T121K probably benign Het
Btnl12 T C 16: 37,674,841 (GRCm39) D207G probably benign Het
Ccdc170 C CCAG 10: 4,511,030 (GRCm39) probably benign Het
Cckbr GCA G 7: 105,083,893 (GRCm39) probably null Het
Cdk13 T C 13: 17,978,329 (GRCm39) D303G unknown Het
Cfap65 C A 1: 74,944,806 (GRCm39) R1477L probably damaging Het
Chd2 A G 7: 73,169,410 (GRCm39) S37P possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,176,127 (GRCm39) I259V probably benign Het
Csnk1d A T 11: 120,862,453 (GRCm39) N275K possibly damaging Het
Dmxl1 A C 18: 50,026,461 (GRCm39) R1856S probably damaging Het
Dnah5 T C 15: 28,204,165 (GRCm39) V14A probably benign Het
Edc4 G A 8: 106,615,812 (GRCm39) S729N probably benign Het
Emilin3 T C 2: 160,751,012 (GRCm39) S246G probably benign Het
Epc2 T G 2: 49,422,249 (GRCm39) probably null Het
Exoc6 T A 19: 37,560,068 (GRCm39) F101I probably benign Het
Fam171b GCAGCA GCAGCACCAGCA 2: 83,643,224 (GRCm39) probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Gab3 TTC TTCCTC X: 74,043,598 (GRCm39) probably benign Het
Gab3 CTT CTTATT X: 74,043,630 (GRCm39) probably null Het
Gabpa C A 16: 84,641,224 (GRCm39) Q93K probably benign Het
Gabre GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC X: 71,314,318 (GRCm39) probably benign Het
Gabre GGCTCA GGCTCAAGCTCA X: 71,314,319 (GRCm39) probably benign Het
H2-T3 TCCCGAAGAAC TC 17: 36,500,294 (GRCm39) probably benign Het
Htr5a A G 5: 28,047,859 (GRCm39) D138G probably damaging Het
Ifi207 G A 1: 173,556,558 (GRCm39) P727S probably benign Het
Ifna13 T A 4: 88,562,145 (GRCm39) S160C probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Klri2 GGAG GG 6: 129,710,737 (GRCm39) probably null Het
Lce1m GTTGCTGCCACTG GTTGCTGCCACTGTTGCTGCCACTG 3: 92,925,438 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Lrch4 A G 5: 137,635,805 (GRCm39) probably null Het
Lrrc2 TTGATTCGGTTCACC T 9: 110,810,744 (GRCm39) probably null Het
Map1a GCTCCAGC GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC 2: 121,136,782 (GRCm39) probably benign Het
Mettl25 T C 10: 105,669,100 (GRCm39) probably benign Het
Mex3b A G 7: 82,516,968 (GRCm39) D37G probably damaging Het
Mon1a T A 9: 107,778,433 (GRCm39) V219E probably damaging Het
Myo5b T A 18: 74,777,070 (GRCm39) C377S probably damaging Het
Nefh ACTTGGCCTCAGCTGGGG ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG 11: 4,890,997 (GRCm39) probably benign Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Ntn5 T C 7: 45,342,684 (GRCm39) probably null Het
Oog2 T C 4: 143,921,855 (GRCm39) V255A probably benign Het
Or5ac15 T A 16: 58,940,274 (GRCm39) H53L probably damaging Het
Or8b37 A T 9: 37,959,043 (GRCm39) H175L probably damaging Het
Pdgfd C A 9: 6,288,624 (GRCm39) L93M probably damaging Het
Pgls G T 8: 72,045,107 (GRCm39) V83L probably damaging Het
Pigw C A 11: 84,767,987 (GRCm39) Q447H probably damaging Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Poc1a C A 9: 106,172,417 (GRCm39) L253M possibly damaging Het
Ppl T A 16: 4,915,795 (GRCm39) E589D probably benign Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Prx T C 7: 27,218,385 (GRCm39) F1101S probably damaging Het
Rffl A G 11: 82,736,598 (GRCm39) V26A probably benign Het
Scube3 T A 17: 28,387,371 (GRCm39) L923Q probably damaging Het
Setd2 C T 9: 110,379,779 (GRCm39) P1198L probably damaging Het
Shank2 C A 7: 143,965,308 (GRCm39) A972E possibly damaging Het
Slc10a6 A G 5: 103,756,858 (GRCm39) L302P probably damaging Het
Slc29a3 C T 10: 60,586,340 (GRCm39) G42D probably benign Het
Spart T C 3: 55,035,027 (GRCm39) V471A probably benign Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Sspo T A 6: 48,436,919 (GRCm39) Y1284* probably null Het
Supt20 AGCAGC AGCAGCCGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Tcof1 GCA GCACCA 18: 60,968,815 (GRCm39) probably benign Het
Tff1 CTTCCTG C 17: 31,383,901 (GRCm39) probably benign Het
Tmprss13 ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC 9: 45,239,762 (GRCm39) probably benign Het
Tnfrsf25 T C 4: 152,204,081 (GRCm39) W341R probably damaging Het
Trappc9 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,136 (GRCm39) probably benign Het
Trav8d-1 T A 14: 53,016,207 (GRCm39) L31Q probably damaging Het
Ttc23 A T 7: 67,375,777 (GRCm39) I452F possibly damaging Het
Uimc1 T C 13: 55,198,598 (GRCm39) E526G possibly damaging Het
Ulbp1 T A 10: 7,397,405 (GRCm39) K233N unknown Het
Usp17ld A T 7: 102,899,495 (GRCm39) V479E probably damaging Het
Utrn T TGTTACCC 10: 12,509,689 (GRCm39) probably null Het
Vmn1r9 C T 6: 57,048,465 (GRCm39) S180L probably benign Het
Wdr97 GAGGAGGA G 15: 76,247,367 (GRCm39) probably null Het
Zfp598 CACC CACCCCTACC 17: 24,899,761 (GRCm39) 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
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
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
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'- AGACTGCAGTTTCCCTTAGCC -3'
(R):5'- GCAATGGAAAGAACAGCTTGTC -3'

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