Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01299:Tbck'

75215

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01299

Quality Score

Status

Chromosome

Chromosomal Location

132389905-132547449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132430638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 345 (I345F)

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: I345F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: I345F

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,248,743 (GRCm39)	T2830I	probably benign	Het
Akap1	C	T	11: 88,735,080 (GRCm39)		probably null	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Cox6b1	G	A	7: 30,316,553 (GRCm39)	T81I	possibly damaging	Het
Creb1	T	C	1: 64,609,284 (GRCm39)		probably benign	Het
Cyp4f40	G	T	17: 32,886,948 (GRCm39)	A140S	probably benign	Het
Dus4l	A	G	12: 31,690,823 (GRCm39)	M276T	probably benign	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Fmo2	A	T	1: 162,705,599 (GRCm39)	N413K	probably benign	Het
Gabrp	T	C	11: 33,504,476 (GRCm39)	T280A	probably damaging	Het
Golph3l	A	G	3: 95,524,588 (GRCm39)	T217A	possibly damaging	Het
Mtr	T	C	13: 12,240,536 (GRCm39)		probably benign	Het
Nbea	T	G	3: 55,598,315 (GRCm39)	D2398A	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Phyh	T	A	2: 4,935,604 (GRCm39)	W193R	probably null	Het
Rab36	A	G	10: 74,884,298 (GRCm39)	Q82R	probably damaging	Het
Ranbp2	T	C	10: 58,328,639 (GRCm39)	V2846A	probably damaging	Het
Rprd2	G	A	3: 95,683,859 (GRCm39)	S374L	probably damaging	Het
Slc9a3	A	G	13: 74,308,382 (GRCm39)	R462G	probably benign	Het
Slitrk3	T	C	3: 72,956,349 (GRCm39)	N808D	probably benign	Het
Tor2a	T	A	2: 32,649,558 (GRCm39)	V146D	probably damaging	Het
Trpc6	C	A	9: 8,653,062 (GRCm39)	Q623K	probably damaging	Het
Ube2q1	A	G	3: 89,688,681 (GRCm39)	S192G	probably damaging	Het
Vnn1	T	A	10: 23,770,949 (GRCm39)	L59Q	probably 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
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
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

Posted On

2013-10-07