Incidental Mutation 'IGL02960:Tbck'
ID 365300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbck
Ensembl Gene ENSMUSG00000028030
Gene Name TBC1 domain containing kinase
Synonyms A630047E20Rik, 1700120J03Rik, C030007I09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02960
Quality Score
Status
Chromosome 3
Chromosomal Location 132389905-132547449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132428544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 300 (T300A)
Ref Sequence ENSEMBL: ENSMUSP00000129205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169172]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000029664
SMART Domains Protein: ENSMUSP00000029664
Gene: ENSMUSG00000028030

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 32 270 6.2e-30 PFAM
Pfam:Pkinase 33 273 1.9e-39 PFAM
Pfam:Kinase-like 71 261 3.4e-8 PFAM
Blast:TBC 366 450 5e-34 BLAST
TBC 463 674 5.27e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169172
AA Change: T300A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: T300A

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 32 270 4.5e-29 PFAM
Pfam:Pkinase 32 273 1.4e-39 PFAM
Blast:TBC 366 450 5e-34 BLAST
TBC 463 674 5.27e-46 SMART
RHOD 780 886 2.67e-13 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,257 (GRCm39) R14C probably benign Het
Adam29 A T 8: 56,325,701 (GRCm39) L251* probably null Het
Atpaf2 T C 11: 60,296,650 (GRCm39) E161G probably damaging Het
Brwd1 T C 16: 95,858,666 (GRCm39) D381G probably damaging Het
Cept1 T A 3: 106,446,712 (GRCm39) R45* probably null Het
Col3a1 A G 1: 45,367,615 (GRCm39) E273G unknown Het
Cuzd1 T C 7: 130,921,832 (GRCm39) N57D probably benign Het
Cyp2b13 A G 7: 25,761,101 (GRCm39) K53E probably benign Het
Fadd T C 7: 144,134,276 (GRCm39) E203G probably benign Het
Gm3159 G A 14: 4,400,552 (GRCm38) probably null Het
Gpr137c T C 14: 45,483,890 (GRCm39) F206L possibly damaging Het
Hephl1 G T 9: 14,995,615 (GRCm39) T471N probably damaging Het
Ido1 A T 8: 25,083,345 (GRCm39) probably benign Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lrp2 T A 2: 69,285,797 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,147,025 (GRCm39) L613H probably damaging Het
Mettl14 A G 3: 123,168,534 (GRCm39) Y169H probably damaging Het
Nlrp4a A G 7: 26,149,155 (GRCm39) Q254R probably benign Het
Or4c15 A C 2: 88,760,128 (GRCm39) M177R possibly damaging Het
Or7c70 A T 10: 78,683,371 (GRCm39) I126N probably damaging Het
Pira12 T C 7: 3,900,078 (GRCm39) T175A possibly damaging Het
Pkhd1 A T 1: 20,447,670 (GRCm39) M2241K possibly damaging Het
Ptprd G A 4: 76,047,105 (GRCm39) S387L probably damaging Het
Ryr1 A C 7: 28,759,478 (GRCm39) L3264R probably damaging Het
Serpina16 G A 12: 103,641,638 (GRCm39) T29I probably benign Het
Slc9a7 A G X: 20,052,382 (GRCm39) M237T probably benign Het
Tcaf1 A C 6: 42,663,393 (GRCm39) D162E probably benign Het
Unc80 G A 1: 66,717,217 (GRCm39) probably benign Het
Usp17le A C 7: 104,417,947 (GRCm39) H398Q probably benign Het
Utp15 G A 13: 98,389,389 (GRCm39) T303M probably benign Het
Vmn2r86 A C 10: 130,289,636 (GRCm39) D86E possibly damaging Het
Zmym2 T A 14: 57,175,870 (GRCm39) C822S probably benign Het
Zp3r T C 1: 130,511,175 (GRCm39) D336G possibly damaging Het
Zpr1 A G 9: 46,184,849 (GRCm39) H82R probably damaging Het
Other mutations in Tbck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Tbck APN 3 132,448,854 (GRCm39) splice site probably null
IGL00492:Tbck APN 3 132,428,501 (GRCm39) missense probably benign 0.00
IGL01020:Tbck APN 3 132,432,903 (GRCm39) nonsense probably null
IGL01111:Tbck APN 3 132,400,168 (GRCm39) missense probably damaging 1.00
IGL01299:Tbck APN 3 132,430,638 (GRCm39) missense probably damaging 0.98
IGL02456:Tbck APN 3 132,440,475 (GRCm39) splice site probably benign
IGL02554:Tbck APN 3 132,456,953 (GRCm39) nonsense probably null
IGL02640:Tbck APN 3 132,480,247 (GRCm39) missense probably benign 0.26
IGL03184:Tbck APN 3 132,441,864 (GRCm39) missense probably damaging 1.00
IGL03246:Tbck APN 3 132,480,331 (GRCm39) missense probably benign
fear-4 UTSW 3 132,430,677 (GRCm39) critical splice donor site probably null
Fuerchte UTSW 3 132,428,052 (GRCm39) splice site probably benign
PIT1430001:Tbck UTSW 3 132,428,487 (GRCm39) missense probably benign
PIT4802001:Tbck UTSW 3 132,458,427 (GRCm39) missense probably damaging 1.00
R0113:Tbck UTSW 3 132,448,841 (GRCm39) missense probably damaging 1.00
R0241:Tbck UTSW 3 132,430,636 (GRCm39) missense probably benign
R0241:Tbck UTSW 3 132,430,636 (GRCm39) missense probably benign
R0309:Tbck UTSW 3 132,440,168 (GRCm39) nonsense probably null
R0375:Tbck UTSW 3 132,456,993 (GRCm39) splice site probably benign
R0571:Tbck UTSW 3 132,458,403 (GRCm39) missense probably damaging 1.00
R0831:Tbck UTSW 3 132,428,052 (GRCm39) splice site probably benign
R1135:Tbck UTSW 3 132,437,952 (GRCm39) missense probably damaging 0.97
R1184:Tbck UTSW 3 132,543,733 (GRCm39) missense probably benign 0.01
R1560:Tbck UTSW 3 132,543,809 (GRCm39) missense probably damaging 1.00
R1563:Tbck UTSW 3 132,421,454 (GRCm39) missense possibly damaging 0.94
R1659:Tbck UTSW 3 132,440,116 (GRCm39) missense probably damaging 1.00
R1799:Tbck UTSW 3 132,480,263 (GRCm39) missense probably benign 0.01
R1830:Tbck UTSW 3 132,543,772 (GRCm39) missense probably benign 0.40
R1884:Tbck UTSW 3 132,430,677 (GRCm39) critical splice donor site probably null
R3406:Tbck UTSW 3 132,432,845 (GRCm39) missense probably benign 0.41
R4021:Tbck UTSW 3 132,432,895 (GRCm39) missense probably damaging 0.97
R4205:Tbck UTSW 3 132,543,789 (GRCm39) missense probably benign 0.32
R4503:Tbck UTSW 3 132,456,981 (GRCm39) missense probably benign 0.03
R4794:Tbck UTSW 3 132,392,729 (GRCm39) missense possibly damaging 0.90
R4795:Tbck UTSW 3 132,413,559 (GRCm39) missense possibly damaging 0.95
R4859:Tbck UTSW 3 132,507,288 (GRCm39) missense probably benign 0.00
R5282:Tbck UTSW 3 132,456,977 (GRCm39) missense possibly damaging 0.95
R5787:Tbck UTSW 3 132,443,329 (GRCm39) missense probably damaging 1.00
R5987:Tbck UTSW 3 132,507,278 (GRCm39) missense possibly damaging 0.53
R6145:Tbck UTSW 3 132,437,976 (GRCm39) missense probably damaging 1.00
R6147:Tbck UTSW 3 132,400,207 (GRCm39) missense probably benign
R6242:Tbck UTSW 3 132,400,189 (GRCm39) missense probably benign 0.16
R6276:Tbck UTSW 3 132,448,766 (GRCm39) missense probably damaging 1.00
R6912:Tbck UTSW 3 132,392,703 (GRCm39) missense possibly damaging 0.50
R7107:Tbck UTSW 3 132,428,092 (GRCm39) missense possibly damaging 0.73
R7191:Tbck UTSW 3 132,443,316 (GRCm39) missense probably damaging 1.00
R7466:Tbck UTSW 3 132,458,324 (GRCm39) missense probably damaging 0.99
R7719:Tbck UTSW 3 132,440,489 (GRCm39) missense probably damaging 1.00
R8371:Tbck UTSW 3 132,458,285 (GRCm39) missense possibly damaging 0.47
R8757:Tbck UTSW 3 132,392,587 (GRCm39) missense probably benign
R8830:Tbck UTSW 3 132,543,818 (GRCm39) missense probably damaging 1.00
R8997:Tbck UTSW 3 132,440,106 (GRCm39) critical splice acceptor site probably null
R9069:Tbck UTSW 3 132,428,130 (GRCm39) critical splice donor site probably null
R9301:Tbck UTSW 3 132,543,738 (GRCm39) missense probably benign 0.26
R9525:Tbck UTSW 3 132,456,966 (GRCm39) missense probably damaging 0.98
R9591:Tbck UTSW 3 132,400,195 (GRCm39) missense probably benign 0.38
R9657:Tbck UTSW 3 132,421,451 (GRCm39) missense probably damaging 1.00
X0018:Tbck UTSW 3 132,392,561 (GRCm39) start codon destroyed probably damaging 0.99
Posted On 2015-12-18