Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Tbck'

507626

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, C030007I09Rik, 1700120J03Rik

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132684144-132841688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132743005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 593 (Y593C)

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

Domain	Start	End	E-Value	Type
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: Y593C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: Y593C

Domain	Start	End	E-Value	Type
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

0.7439

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	Het

Other mutations in Tbck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6912:Tbck	UTSW	3	132686942	missense	possibly damaging	0.50
R7107:Tbck	UTSW	3	132722331	missense	possibly damaging	0.73
R7191:Tbck	UTSW	3	132737555	missense	probably damaging	1.00
R7466:Tbck	UTSW	3	132752563	missense	probably damaging	0.99
R7719:Tbck	UTSW	3	132734728	missense	probably damaging	1.00
R8371:Tbck	UTSW	3	132752524	missense	possibly damaging	0.47
R8757:Tbck	UTSW	3	132686826	missense	probably benign
R8830:Tbck	UTSW	3	132838057	missense	probably damaging	1.00
R8997:Tbck	UTSW	3	132734345	critical splice acceptor site	probably null
R9069:Tbck	UTSW	3	132722369	critical splice donor site	probably null
R9301:Tbck	UTSW	3	132837977	missense	probably benign	0.26
R9525:Tbck	UTSW	3	132751205	missense	probably damaging	0.98
R9591:Tbck	UTSW	3	132694434	missense	probably benign	0.38
R9657:Tbck	UTSW	3	132715690	missense	probably damaging	1.00
X0018:Tbck	UTSW	3	132686800	start codon destroyed	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGACTCGAAATAACAGATAGCTC -3'
(R):5'- ACTTGTGCAGACATCTTATGACC -3'

Sequencing Primer
(F):5'- CTGTGGAGCAGGTTAGAT -3'
(R):5'- ACTCTGTCATTTCTGCTCAACC -3'

Posted On

2018-03-15