Incidental Mutation 'PIT1430001:Tbck'
ID499838
Institutional Source Beutler Lab
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 #PIT1430001 (G1)
Quality Score100
Status Validated
Chromosome3
Chromosomal Location132684144-132841688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 132722726 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 281 (T281P)
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 benign
Transcript: ENSMUST00000169172
AA Change: T281P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: T281P

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 0.082 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik T A 13: 58,385,013 K48* probably null Het
2700049A03Rik A T 12: 71,160,386 I524F possibly damaging Het
4930511M06Rik T C 18: 57,384,169 probably benign Het
9330159F19Rik T A 10: 29,224,715 N361K probably damaging Het
Akap9 A G 5: 4,029,849 D1867G probably damaging Het
Ankrd17 T C 5: 90,252,973 T1687A possibly damaging Het
Ap1m2 G A 9: 21,298,252 P376L probably damaging Het
Bicc1 A G 10: 70,957,681 S196P possibly damaging Het
Cacnb2 C T 2: 14,971,601 R228* probably null Het
Ccdc43 A G 11: 102,692,150 S83P probably damaging Het
Ccdc94 C T 17: 55,964,479 probably benign Het
Cdc42bpg T A 19: 6,322,552 probably null Het
Cdh16 C A 8: 104,617,639 M89I probably benign Het
Cecr2 A C 6: 120,758,479 H892P probably benign Het
Chd5 T A 4: 152,370,637 S859T probably damaging Het
Chrd G A 16: 20,738,998 probably null Het
Chrna2 T A 14: 66,149,737 L444Q probably benign Het
Ckap4 A G 10: 84,527,766 S478P probably damaging Het
Cldn4 A T 5: 134,946,660 M29K possibly damaging Het
Clpb T C 7: 101,786,719 V615A possibly damaging Het
Cyb5r4 G A 9: 87,038,738 G142E probably benign Het
Cyp1a1 A G 9: 57,700,911 Y274C probably benign Het
D2hgdh T C 1: 93,826,279 probably benign Het
Dgkh T A 14: 78,581,513 E919V probably damaging Het
Dnah1 A G 14: 31,262,580 Y3916H probably damaging Het
Dpp10 A G 1: 123,341,182 probably benign Het
Egfr A G 11: 16,910,214 T1043A probably benign Het
Elp5 T G 11: 69,967,109 probably null Het
Emilin3 A T 2: 160,908,482 M449K possibly damaging Het
Epb41l4a T G 18: 33,797,347 T686P probably damaging Het
Eppk1 A G 15: 76,105,236 C2482R probably benign Het
Eps8l3 T C 3: 107,884,867 L370P probably damaging Het
Erbin A T 13: 103,859,509 S228R probably damaging Het
Fam149a C T 8: 45,351,706 E280K probably benign Het
Fam78b T C 1: 167,001,744 I60T probably benign Het
Fank1 A T 7: 133,876,800 R197* probably null Het
Fbxo21 C T 5: 117,977,866 S83F possibly damaging Het
Fbxo4 G C 15: 3,979,300 T42R probably benign Het
Fhad1 C G 4: 141,909,749 E1135D probably damaging Het
Fmo1 T A 1: 162,830,053 E506D probably benign Het
Glipr1l2 A T 10: 112,106,840 T231S probably benign Het
Gm11651 C G 11: 105,973,091 probably benign Het
Gm16043 A G 6: 8,426,969 probably null Het
Gm5615 A T 9: 36,534,999 L39* probably null Het
Gm572 T G 4: 148,671,393 W389G unknown Het
Gpc6 G A 14: 117,951,182 W409* probably null Het
Gpr124 A G 8: 27,114,188 M469V possibly damaging Het
Gpr155 T C 2: 73,370,138 T342A probably benign Het
Hcn4 A C 9: 58,859,550 H798P unknown Het
Herc2 T C 7: 56,226,954 S4513P probably damaging Het
Hmcn1 G A 1: 150,808,737 R361C probably benign Het
Hoxa4 G T 6: 52,191,219 P157Q possibly damaging Het
Ift122 A C 6: 115,925,744 probably benign Het
Igfbpl1 G A 4: 45,826,756 S13L unknown Het
Igsf10 T C 3: 59,328,158 D1534G probably benign Het
Il1rap T G 16: 26,710,593 L339V possibly damaging Het
Irf2bpl C T 12: 86,883,455 R148H possibly damaging Het
Ivns1abp A T 1: 151,361,605 R58W probably damaging Het
Kcnq5 C T 1: 21,535,181 V167M probably damaging Het
Lrrcc1 G A 3: 14,545,596 C337Y probably damaging Het
Lrriq3 A G 3: 155,098,870 I56V probably benign Het
Marc1 T G 1: 184,807,049 T37P probably benign Het
Masp1 C A 16: 23,513,944 S47I probably damaging Het
Mcm7 A T 5: 138,167,446 probably benign Het
Mdm2 G T 10: 117,694,935 S210R probably damaging Het
Mical1 A G 10: 41,483,496 R500G possibly damaging Het
Myc A C 15: 61,987,693 T73P probably damaging Het
Myh15 G A 16: 49,196,891 probably null Het
Myh4 A G 11: 67,258,832 M1768V probably benign Het
Nap1l1 T C 10: 111,486,736 Y66H probably damaging Het
Ncoa1 C T 12: 4,323,005 R132K probably benign Het
Nfatc3 C T 8: 106,059,973 S28F possibly damaging Het
Nhlrc3 T A 3: 53,453,629 K235M probably damaging Het
Nrk G A X: 138,978,714 E757K probably damaging Het
Obsl1 G A 1: 75,506,167 P20S probably damaging Het
P2rx7 C T 5: 122,681,216 A567V probably damaging Het
Pcdhb15 G A 18: 37,475,671 R652H probably benign Het
Pcdhga4 T C 18: 37,686,214 V272A probably benign Het
Pcdhgb1 T G 18: 37,681,419 V321G probably damaging Het
Pde2a C G 7: 101,451,477 probably benign Het
Pdhb C T 14: 8,170,425 E109K probably damaging Het
Pkd1 C A 17: 24,569,511 L748M probably damaging Het
Pkd2 A T 5: 104,459,788 E51V probably damaging Het
Pkdrej A G 15: 85,821,292 Y148H probably damaging Het
Polr3gl C G 3: 96,580,912 probably benign Het
Ppfia1 A T 7: 144,498,336 L882Q probably damaging Het
Ppp4r3b G T 11: 29,209,434 R596L probably benign Het
Ppp6r3 G A 19: 3,471,059 Q85* probably null Het
Prss8 A G 7: 127,922,252 probably benign Het
Rab22a A G 2: 173,695,170 I87V probably benign Het
Rev1 A C 1: 38,056,256 probably benign Het
Rnase13 A G 14: 51,922,530 Y51H probably damaging Het
Rnf26 T C 9: 44,112,645 H102R probably damaging Het
Rnf5 T C 17: 34,603,367 E36G probably damaging Het
Rplp1 T G 9: 61,914,376 D18A probably benign Het
Rrs1 C A 1: 9,545,925 D134E probably damaging Het
Sec14l1 A G 11: 117,143,803 Y166C probably damaging Het
Sec14l2 A T 11: 4,109,209 Y153* probably null Het
Senp1 A G 15: 98,084,989 L39P probably damaging Het
Senp2 T A 16: 22,014,114 probably benign Het
Sh3bp1 G A 15: 78,914,024 A19T probably benign Het
Sis G A 3: 72,922,829 P1130S probably damaging Het
Slc16a12 C T 19: 34,677,359 A95T possibly damaging Het
Slc22a4 A G 11: 54,027,957 V7A probably benign Het
Slc35c2 C T 2: 165,277,532 S296N probably benign Het
Slf1 A G 13: 77,050,050 probably benign Het
Slitrk6 A T 14: 110,750,427 V616E possibly damaging Het
Smarca2 T A 19: 26,649,093 M439K probably benign Het
Snx29 G A 16: 11,403,624 A305T probably benign Het
Socs5 C T 17: 87,133,616 probably benign Het
Spata31d1a G T 13: 59,701,196 H1039Q probably benign Het
Srgap1 G A 10: 121,896,753 probably benign Het
Synj1 A T 16: 90,964,508 I650N probably damaging Het
Tac4 A C 11: 95,267,364 probably benign Het
Tbx22 T C X: 107,677,005 L62P probably damaging Het
Terf2 G C 8: 107,096,302 R70G probably damaging Het
Tfdp1 C T 8: 13,372,526 P138S probably benign Het
Tigd2 T C 6: 59,211,248 Y367H probably damaging Het
Tmprss15 A T 16: 79,024,752 probably null Het
Tmprss6 C T 15: 78,440,627 G741D probably damaging Het
Tnrc6b A C 15: 80,929,186 T1715P probably damaging Het
Tpcn1 T C 5: 120,548,323 probably benign Het
Trappc2l T C 8: 122,613,135 S35P probably damaging Het
Trim63 T C 4: 134,321,173 probably benign Het
Trim66 G T 7: 109,475,247 D602E probably damaging Het
Trp53bp1 G A 2: 121,271,275 P2S probably damaging Het
Tspan14 A G 14: 40,915,531 L100P probably damaging Het
Tspan15 C T 10: 62,188,120 E260K probably damaging Het
Ubxn10 T C 4: 138,720,888 D159G probably benign Het
Unc5a T G 13: 55,003,896 V713G probably damaging Het
Usp16 C T 16: 87,473,132 A324V probably damaging Het
Uvssa G A 5: 33,402,570 R422Q possibly damaging Het
Wdr34 T C 2: 30,032,135 Y438C probably damaging Het
Wipf1 A C 2: 73,437,602 F151V probably damaging Het
Xpo1 A T 11: 23,276,437 K104N possibly damaging Het
Ybx3 T C 6: 131,379,459 T150A probably damaging Het
Zap70 T A 1: 36,779,169 S312R possibly damaging Het
Zfp534 T G 4: 147,675,423 K263T probably benign Het
Zfp534 T G 4: 147,675,460 N251H probably benign 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
IGL03184:Tbck APN 3 132736103 missense probably damaging 1.00
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
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
Predicted Primers
Posted On2017-11-21