Mutagenetix > Incidental Mutation

Incidental Mutation 'R4503:Tbck'

331890

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, 1700120J03Rik, C030007I09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R4503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132389905-132547449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132456981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 632 (T632A)

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 benign
Transcript: ENSMUST00000169172
AA Change: T632A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: T632A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,607,672 (GRCm39)	L30P	probably benign	Het
Adamts20	T	C	15: 94,277,631 (GRCm39)	H277R	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp13a5	G	T	16: 29,112,346 (GRCm39)	N598K	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Cdk5	G	A	5: 24,624,617 (GRCm39)	T258M	possibly damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Coro6	A	G	11: 77,360,272 (GRCm39)	E414G	probably benign	Het
Dst	T	C	1: 34,301,334 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
H2bc18	A	T	3: 96,177,240 (GRCm39)	K58M	possibly damaging	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Mapkbp1	T	C	2: 119,846,187 (GRCm39)	I451T	probably damaging	Het
Ncf2	A	G	1: 152,709,529 (GRCm39)	E342G	probably benign	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pds5b	T	C	5: 150,652,399 (GRCm39)	L222P	probably damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Sacs	A	G	14: 61,445,052 (GRCm39)	N2366S	probably damaging	Het
Sall2	T	C	14: 52,550,916 (GRCm39)	M758V	probably benign	Het
Sh3tc2	A	G	18: 62,107,694 (GRCm39)	E235G	probably damaging	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Smad2	T	A	18: 76,435,663 (GRCm39)	S419T	probably benign	Het
Sprr3	T	C	3: 92,364,683 (GRCm39)	I54V	possibly damaging	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tmem178	C	T	17: 81,293,693 (GRCm39)	T162I	probably benign	Het
Zfp619	A	G	7: 39,186,280 (GRCm39)	H770R	probably damaging	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly damaging	Het

Other mutations in Tbck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCACCCGCATTTGTAAGATG -3'
(R):5'- TGTTAACAGAGAACACCTAGAAAGC -3'

Sequencing Primer
(F):5'- GCACCCGCATTTGTAAGATGGATAAC -3'
(R):5'- TGCAATCCTGAAAGTTCCCTATAC -3'

Posted On

2015-07-21