Incidental Mutation 'IGL03131:Myh3'
ID410363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myh3
Ensembl Gene ENSMUSG00000020908
Gene Namemyosin, heavy polypeptide 3, skeletal muscle, embryonic
SynonymsMyhse, Myhs-e, MyHC-emb
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.583) question?
Stock #IGL03131
Quality Score
Status
Chromosome11
Chromosomal Location67078300-67102291 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 67091109 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
Predicted Effect probably benign
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 benign
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 benign
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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,679,602 R135S unknown Het
A1bg T C 15: 60,919,756 Y277C probably damaging Het
Abca12 A T 1: 71,346,702 F252L probably benign Het
Abcd3 A T 3: 121,781,991 probably benign Het
Acvr2b C A 9: 119,431,284 F364L possibly damaging Het
Adamts12 T C 15: 11,345,564 C1564R probably damaging Het
Agap3 A G 5: 24,477,132 T392A probably benign Het
Ano1 A G 7: 144,603,585 F767L possibly damaging Het
Atg10 C A 13: 90,937,293 R179I probably null Het
Bsph1 A T 7: 13,473,087 K129N probably damaging Het
Calml4 A G 9: 62,875,483 D77G probably benign Het
Cc2d1a T A 8: 84,143,427 K153M probably damaging Het
Col4a2 G A 8: 11,425,979 V672I probably benign Het
Crnkl1 T C 2: 145,932,258 K95R probably benign Het
Crtap T C 9: 114,380,004 D324G possibly damaging Het
Csmd1 C T 8: 16,088,217 G1607E probably damaging Het
Dcbld2 T G 16: 58,451,688 I369R probably benign Het
Dmc1 T A 15: 79,568,691 I246L probably benign Het
Dock1 G T 7: 134,874,183 V896L possibly damaging Het
Eftud2 G A 11: 102,870,183 T112M probably damaging Het
F5 A T 1: 164,161,819 I97F possibly damaging Het
Fam208a C T 14: 27,461,179 Q532* probably null Het
Fasn C T 11: 120,810,724 V1939M possibly damaging Het
Gpatch2l T C 12: 86,281,511 V414A probably benign Het
Gpd2 T C 2: 57,338,843 probably benign Het
Gria4 T G 9: 4,432,876 N769T probably damaging Het
Gtf3c2 A T 5: 31,157,620 F885I probably damaging Het
Ifi209 C T 1: 173,641,234 T210I possibly damaging Het
Kmt2c A G 5: 25,315,361 V1917A probably benign Het
Mad1l1 G A 5: 140,307,703 A120V probably benign Het
Mef2c T C 13: 83,662,375 I382T probably damaging Het
Ms4a14 A T 19: 11,307,692 L171I probably benign Het
Myf6 T A 10: 107,494,271 Q145L probably damaging Het
Nbas A G 12: 13,279,416 I121V probably benign Het
Ncoa2 A T 1: 13,177,174 S342T probably damaging Het
Nlrp1b C T 11: 71,161,915 D896N possibly damaging Het
Prss41 A G 17: 23,842,524 Y98H probably benign Het
Ptpn13 A T 5: 103,517,559 T450S probably benign Het
Rab39 G A 9: 53,686,561 R135C probably damaging Het
Radil A G 5: 142,495,342 V570A probably damaging Het
Sbno1 C T 5: 124,388,605 R949Q probably damaging Het
Sec61a2 T A 2: 5,882,878 K98* probably null Het
Serbp1 T A 6: 67,281,823 probably null Het
Serpinb3c G T 1: 107,271,727 Q355K probably benign Het
Slc34a3 T G 2: 25,231,234 D307A probably benign Het
Smarcad1 T A 6: 65,074,953 S357T probably damaging Het
Spag17 G A 3: 100,010,759 D353N possibly damaging Het
Spdl1 T A 11: 34,830,765 Q39L possibly damaging Het
Syne2 A C 12: 76,057,490 Q5485P probably damaging Het
Synj1 C A 16: 90,988,168 V227F probably damaging Het
Syt12 T C 19: 4,456,854 T88A probably benign Het
Tlr12 A G 4: 128,615,877 F860S probably damaging Het
Trdn C A 10: 33,398,414 S461* probably null Het
Trip4 G A 9: 65,857,445 P413S probably benign Het
Wdr17 A G 8: 54,696,267 probably null Het
Wnt9a T C 11: 59,331,029 L251P probably damaging Het
Xrcc1 A T 7: 24,573,294 K618* probably null Het
Zfp759 T C 13: 67,138,664 L93P probably damaging Het
Other mutations in Myh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Myh3 APN 11 67090855 missense probably damaging 1.00
IGL01989:Myh3 APN 11 67086655 missense probably damaging 1.00
IGL02097:Myh3 APN 11 67082924 missense probably benign
IGL02197:Myh3 APN 11 67098583 missense probably benign 0.05
IGL02458:Myh3 APN 11 67096940 missense possibly damaging 0.87
IGL02526:Myh3 APN 11 67087545 missense probably benign 0.01
IGL02559:Myh3 APN 11 67101095 missense possibly damaging 0.94
IGL02600:Myh3 APN 11 67083401 missense probably damaging 1.00
IGL02866:Myh3 APN 11 67089023 missense probably benign 0.08
IGL02943:Myh3 APN 11 67091065 missense probably benign 0.02
IGL03087:Myh3 APN 11 67090972 missense probably damaging 1.00
bud UTSW 11 67096007 critical splice acceptor site probably null
R0049:Myh3 UTSW 11 67099672 missense probably damaging 1.00
R0157:Myh3 UTSW 11 67082909 missense probably benign 0.00
R0266:Myh3 UTSW 11 67093672 missense possibly damaging 0.73
R0352:Myh3 UTSW 11 67090428 missense possibly damaging 0.79
R0391:Myh3 UTSW 11 67096507 splice site probably benign
R0926:Myh3 UTSW 11 67090514 splice site probably null
R1243:Myh3 UTSW 11 67090453 missense possibly damaging 0.80
R1344:Myh3 UTSW 11 67092332 missense probably benign 0.03
R1414:Myh3 UTSW 11 67098665 missense probably damaging 0.98
R1442:Myh3 UTSW 11 67087277 missense possibly damaging 0.77
R1470:Myh3 UTSW 11 67098059 splice site probably benign
R1480:Myh3 UTSW 11 67093545 missense possibly damaging 0.88
R1598:Myh3 UTSW 11 67093171 missense probably damaging 1.00
R1620:Myh3 UTSW 11 67088736 splice site probably benign
R1682:Myh3 UTSW 11 67089065 missense probably damaging 1.00
R1759:Myh3 UTSW 11 67096891 missense probably damaging 0.98
R1772:Myh3 UTSW 11 67099394 missense probably benign 0.32
R1868:Myh3 UTSW 11 67085026 missense probably benign 0.34
R1874:Myh3 UTSW 11 67093179 missense probably benign 0.03
R1885:Myh3 UTSW 11 67086627 missense probably benign 0.23
R1923:Myh3 UTSW 11 67080002 missense probably benign 0.00
R2145:Myh3 UTSW 11 67091056 missense probably benign
R3973:Myh3 UTSW 11 67096436 nonsense probably null
R4410:Myh3 UTSW 11 67085032 missense possibly damaging 0.71
R4583:Myh3 UTSW 11 67096453 nonsense probably null
R4650:Myh3 UTSW 11 67086444 missense probably damaging 1.00
R4822:Myh3 UTSW 11 67089010 missense probably benign
R4836:Myh3 UTSW 11 67096939 missense probably benign 0.01
R4898:Myh3 UTSW 11 67099407 missense probably benign 0.05
R4946:Myh3 UTSW 11 67093538 missense probably benign
R5506:Myh3 UTSW 11 67084089 missense probably damaging 1.00
R5534:Myh3 UTSW 11 67097044 missense probably damaging 1.00
R5733:Myh3 UTSW 11 67088619 missense probably benign 0.24
R5889:Myh3 UTSW 11 67086375 missense probably damaging 1.00
R6056:Myh3 UTSW 11 67087545 missense probably benign 0.01
R6223:Myh3 UTSW 11 67098017 missense probably benign
R6228:Myh3 UTSW 11 67087486 missense probably benign 0.17
R6341:Myh3 UTSW 11 67082996 missense probably benign 0.00
R6434:Myh3 UTSW 11 67082367 missense probably damaging 1.00
R6533:Myh3 UTSW 11 67090419 missense probably damaging 0.96
R6812:Myh3 UTSW 11 67086402 missense probably damaging 0.99
R7336:Myh3 UTSW 11 67091021 missense probably benign 0.13
R7354:Myh3 UTSW 11 67096882 missense probably damaging 1.00
R7498:Myh3 UTSW 11 67097048 missense possibly damaging 0.96
R7532:Myh3 UTSW 11 67091095 missense probably benign
R7841:Myh3 UTSW 11 67098692 missense probably damaging 1.00
R7878:Myh3 UTSW 11 67087251 missense probably damaging 1.00
R8169:Myh3 UTSW 11 67089030 missense probably benign 0.06
R8194:Myh3 UTSW 11 67092002 missense probably damaging 1.00
R8215:Myh3 UTSW 11 67101179 missense probably damaging 0.99
R8240:Myh3 UTSW 11 67092370 missense probably benign 0.01
R8255:Myh3 UTSW 11 67095022 missense probably damaging 1.00
R8310:Myh3 UTSW 11 67096007 critical splice acceptor site probably null
RF009:Myh3 UTSW 11 67086355 frame shift probably null
RF009:Myh3 UTSW 11 67086356 frame shift probably null
RF009:Myh3 UTSW 11 67086357 frame shift probably null
RF010:Myh3 UTSW 11 67086356 frame shift probably null
RF010:Myh3 UTSW 11 67086359 frame shift probably null
RF013:Myh3 UTSW 11 67086356 frame shift probably null
RF015:Myh3 UTSW 11 67086356 frame shift probably null
X0060:Myh3 UTSW 11 67094998 missense probably benign 0.00
X0062:Myh3 UTSW 11 67089116 missense probably benign 0.03
Z1176:Myh3 UTSW 11 67082415 missense possibly damaging 0.86
Posted On2016-08-02