Incidental Mutation 'IGL03184:Tbck'
ID412360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbck
Ensembl Gene ENSMUSG00000028030
Gene NameTBC1 domain containing kinase
SynonymsA630047E20Rik, C030007I09Rik, 1700120J03Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock #IGL03184
Quality Score
Status
Chromosome3
Chromosomal Location132684144-132841688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132736103 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 557 (Y557H)
Ref Sequence ENSEMBL: ENSMUSP00000129205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169172]
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: Y557H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: Y557H

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,323,451 Y992H possibly damaging Het
Adcy7 T A 8: 88,308,643 D58E probably benign Het
Aff2 G A X: 69,767,234 V404M possibly damaging Het
Ankhd1 T A 18: 36,647,777 L1961M probably damaging Het
BC024978 A G 7: 27,197,007 probably benign Het
Brms1l T C 12: 55,868,277 *324Q probably null Het
Bub1b T C 2: 118,609,777 probably benign Het
Cacna1b A G 2: 24,658,489 probably null Het
Clrn1 T A 3: 58,846,224 T239S probably benign Het
Clta T C 4: 44,025,514 Y145H probably benign Het
Coro6 T C 11: 77,463,953 V14A probably damaging Het
Cyp4a30b A G 4: 115,459,019 D314G probably damaging Het
Fn1 T C 1: 71,609,497 N1418D probably benign Het
Fshr A C 17: 89,046,640 L97V possibly damaging Het
Gcm2 T C 13: 41,105,412 Q152R probably damaging Het
Gcnt2 A G 13: 40,888,184 N273S probably benign Het
Gm11437 A T 11: 84,156,264 probably benign Het
Gm4559 A G 7: 142,274,309 S19P unknown Het
Igsf8 T G 1: 172,318,632 I462R probably damaging Het
Kirrel3 T C 9: 35,007,756 F243S probably damaging Het
Krt80 C T 15: 101,352,254 V37M probably damaging Het
Lama4 T C 10: 39,078,843 Y1131H probably damaging Het
Mrpl21 T C 19: 3,292,529 probably benign Het
Mtcl1 T C 17: 66,354,214 N923S probably benign Het
Nectin2 G A 7: 19,738,306 P53S possibly damaging Het
Nup98 G A 7: 102,183,545 T335I probably damaging Het
Olfr1247 T C 2: 89,609,568 D178G probably damaging Het
Olfr1391 C A 11: 49,327,741 T110K probably damaging Het
Olfr1507 A G 14: 52,490,923 S14P probably benign Het
Olfr643 T A 7: 104,058,847 I252F probably damaging Het
Olfr822 T C 10: 130,074,758 M116T possibly damaging Het
Pcdhb14 A G 18: 37,449,032 E397G probably benign Het
Pcgf5 T G 19: 36,434,676 probably benign Het
Pclo C T 5: 14,714,443 P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,454,511 F226L probably benign Het
Pik3ca T A 3: 32,439,886 S332R probably benign Het
Plek A T 11: 16,981,887 D321E probably benign Het
Pm20d2 A G 4: 33,179,241 F333L probably damaging Het
Polk T C 13: 96,483,983 T570A probably benign Het
Rpgrip1l G A 8: 91,300,809 L201F probably damaging Het
Serpinb2 T A 1: 107,524,877 L395H probably damaging Het
Slc9c1 T G 16: 45,547,640 S197R probably damaging Het
Smg1 T A 7: 118,180,380 E1264V possibly damaging Het
Sned1 A G 1: 93,274,668 D678G probably benign Het
Sorcs2 A G 5: 36,031,212 S851P probably benign Het
Srcap A G 7: 127,530,502 probably benign Het
Tfap2d T C 1: 19,118,886 S219P probably damaging Het
Trim9 T C 12: 70,251,221 D570G probably damaging Het
Usp25 A G 16: 77,081,653 Y655C probably damaging Het
Utrn T A 10: 12,710,166 T956S probably benign Het
Vmn1r68 T A 7: 10,527,872 I100F probably benign Het
Vps13a A T 19: 16,654,370 S2634T probably benign Het
Zfp472 T A 17: 32,977,416 L155* probably null Het
Zfp808 A G 13: 62,169,567 I43M possibly damaging Het
Other mutations in Tbck
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Tbck APN 3 132743093 splice site probably null
IGL00492:Tbck APN 3 132722740 missense probably benign 0.00
IGL01020:Tbck APN 3 132727142 nonsense probably null
IGL01111:Tbck APN 3 132694407 missense probably damaging 1.00
IGL01299:Tbck APN 3 132724877 missense probably damaging 0.98
IGL02456:Tbck APN 3 132734714 splice site probably benign
IGL02554:Tbck APN 3 132751192 nonsense probably null
IGL02640:Tbck APN 3 132774486 missense probably benign 0.26
IGL02960:Tbck APN 3 132722783 missense probably benign 0.01
IGL03246:Tbck APN 3 132774570 missense probably benign
fear-4 UTSW 3 132724916 critical splice donor site probably null
fuerchte UTSW 3 132722291 splice site probably benign
PIT1430001:Tbck UTSW 3 132722726 missense probably benign
PIT4802001:Tbck UTSW 3 132752666 missense probably damaging 1.00
R0113:Tbck UTSW 3 132743080 missense probably damaging 1.00
R0241:Tbck UTSW 3 132724875 missense probably benign
R0241:Tbck UTSW 3 132724875 missense probably benign
R0309:Tbck UTSW 3 132734407 nonsense probably null
R0375:Tbck UTSW 3 132751232 splice site probably benign
R0571:Tbck UTSW 3 132752642 missense probably damaging 1.00
R0831:Tbck UTSW 3 132722291 splice site probably benign
R1135:Tbck UTSW 3 132732191 missense probably damaging 0.97
R1184:Tbck UTSW 3 132837972 missense probably benign 0.01
R1560:Tbck UTSW 3 132838048 missense probably damaging 1.00
R1563:Tbck UTSW 3 132715693 missense possibly damaging 0.94
R1659:Tbck UTSW 3 132734355 missense probably damaging 1.00
R1799:Tbck UTSW 3 132774502 missense probably benign 0.01
R1830:Tbck UTSW 3 132838011 missense probably benign 0.40
R1884:Tbck UTSW 3 132724916 critical splice donor site probably null
R3406:Tbck UTSW 3 132727084 missense probably benign 0.41
R4021:Tbck UTSW 3 132727134 missense probably damaging 0.97
R4205:Tbck UTSW 3 132838028 missense probably benign 0.32
R4503:Tbck UTSW 3 132751220 missense probably benign 0.03
R4794:Tbck UTSW 3 132686968 missense possibly damaging 0.90
R4795:Tbck UTSW 3 132707798 missense possibly damaging 0.95
R4859:Tbck UTSW 3 132801527 missense probably benign 0.00
R5282:Tbck UTSW 3 132751216 missense possibly damaging 0.95
R5787:Tbck UTSW 3 132737568 missense probably damaging 1.00
R5987:Tbck UTSW 3 132801517 missense possibly damaging 0.53
R6145:Tbck UTSW 3 132732215 missense probably damaging 1.00
R6147:Tbck UTSW 3 132694446 missense probably benign
R6242:Tbck UTSW 3 132694428 missense probably benign 0.16
R6276:Tbck UTSW 3 132743005 missense probably damaging 1.00
R6912:Tbck UTSW 3 132686942 missense possibly damaging 0.50
R7107:Tbck UTSW 3 132722331 missense possibly damaging 0.73
X0018:Tbck UTSW 3 132686800 start codon destroyed probably damaging 0.99
Posted On2016-08-02