Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Tbck'

30678

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, C030007I09Rik, 1700120J03Rik

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R0375 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

132684144-132841688 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 132751232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030

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: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	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
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
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'- AGCACCCGCATTTGTAAGATGGATAAC -3'
(R):5'- CTCCCAGTCTAGGAAGTAGAACCAGG -3'

Sequencing Primer
(F):5'- CATTCTTTCATATCTCGTCACTGG -3'
(R):5'- ctcccctccccacccac -3'

Posted On

2013-04-24