Incidental Mutation 'IGL00090:Tbck'
ID 1757
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 # IGL00090
Quality Score
Status
Chromosome 3
Chromosomal Location 132389905-132547449 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 132448854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000169172
SMART Domains Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Tbck
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02960:Tbck APN 3 132,428,544 (GRCm39) missense probably benign 0.01
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 2011-07-12