Mutagenetix > Incidental Mutation

Incidental Mutation 'R1135:Tbck'

94893

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, 1700120J03Rik, C030007I09Rik

MMRRC Submission

039208-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R1135 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132389905-132547449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132437952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 459 (I459N)

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: I459N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: I459N

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: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	G	T	4: 148,029,115 (GRCm39)	V362L	probably benign	Het
Ak5	T	A	3: 152,359,299 (GRCm39)	L166F	probably damaging	Het
Camk2a	T	A	18: 61,090,468 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,839,498 (GRCm39)	I643N	probably damaging	Het
Fibin	G	A	2: 110,192,567 (GRCm39)	H192Y	probably benign	Het
Ints11	T	C	4: 155,972,384 (GRCm39)		probably null	Het
Lct	A	G	1: 128,221,861 (GRCm39)		probably null	Het
Msantd2	A	G	9: 37,434,008 (GRCm39)	I83V	probably damaging	Het
Myh10	A	T	11: 68,698,023 (GRCm39)	M1622L	probably benign	Het
Nkx2-4	G	T	2: 146,926,328 (GRCm39)	S178*	probably null	Het
Nox4	C	T	7: 86,972,997 (GRCm39)	P335S	probably damaging	Het
Rab3gap2	G	A	1: 185,008,140 (GRCm39)	R1085Q	possibly damaging	Het
Skint10	C	T	4: 112,568,660 (GRCm39)	W352*	probably null	Het
Srsf4	T	G	4: 131,627,380 (GRCm39)		probably benign	Het
Sytl1	C	T	4: 132,984,281 (GRCm39)	G274D	probably damaging	Het
Trhr2	A	G	8: 123,085,372 (GRCm39)	L204P	probably damaging	Het
Vps13d	T	C	4: 144,882,159 (GRCm39)	T1145A	probably benign	Het
Wnk2	G	A	13: 49,230,034 (GRCm39)	P830L	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
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
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

Predicted Primers

Posted On

2014-01-05