Incidental Mutation 'R1659:Tbck'
ID 186575
Institutional Source Beutler Lab
Gene Symbol Tbck
Ensembl Gene ENSMUSG00000028030
Gene Name TBC1 domain containing kinase
Synonyms A630047E20Rik, 1700120J03Rik, C030007I09Rik
MMRRC Submission 039695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 132389905-132547449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 132440116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 486 (I486M)
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 damaging
Transcript: ENSMUST00000169172
AA Change: I486M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: I486M

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Ddx51 T A 5: 110,802,986 (GRCm39) I254N probably damaging Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hcrtr1 G T 4: 130,029,129 (GRCm39) Y224* probably null Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Itgax C T 7: 127,730,063 (GRCm39) T73I probably benign Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc12a7 T A 13: 73,938,790 (GRCm39) I189N probably damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Thsd7a T A 6: 12,504,063 (GRCm39) T364S possibly damaging Het
Ttc16 C T 2: 32,652,547 (GRCm39) D761N probably benign Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A 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
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
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'- TCACCTCAGTGGACCTTCATCAGAC -3'
(R):5'- CTAACTACACAGACTTCGGGCAGTG -3'

Sequencing Primer
(F):5'- ACCTTCATCAGACATGGATGGTC -3'
(R):5'- GAAGGGGAAAGGTATCGTCATTC -3'
Posted On 2014-05-09