Incidental Mutation 'R0241:Tbck'
ID 59472
Institutional Source Beutler Lab
Gene Symbol Tbck
Ensembl Gene ENSMUSG00000028030
Gene Name TBC1 domain containing kinase
Synonyms A630047E20Rik, 1700120J03Rik, C030007I09Rik
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R0241 (G1)
Quality Score 164
Status Validated
Chromosome 3
Chromosomal Location 132389905-132547449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132430636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 344 (E344G)
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: E344G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: E344G

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
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CACCCCACCAAATTGcacccta -3'
(R):5'- GTGAGGGTCTAACTGCTTCCATGTTC -3'

Sequencing Primer
(F):5'- atcctcccatctgcttttcc -3'
(R):5'- ACTGCTTCCATGTTCATGTATTAG -3'
Posted On 2013-07-11