Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Tbck'

368834

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, C030007I09Rik, 1700120J03Rik

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132684144-132841688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132686968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 57 (V57M)

Ref Sequence

ENSEMBL: ENSMUSP00000129205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029663] [ENSMUST00000169172] [ENSMUST00000196206] [ENSMUST00000196963] [ENSMUST00000197793] [ENSMUST00000198513]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029663

SMART Domains

Protein: ENSMUSP00000029663
Gene: ENSMUSG00000028029

Domain	Start	End	E-Value	Type
coiled coil region	17	84	N/A	INTRINSIC
low complexity region	124	144	N/A	INTRINSIC
Pfam:tRNA_bind	164	257	2.9e-34	PFAM

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

possibly damaging
Transcript: ENSMUST00000169172
AA Change: V57M

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: V57M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196206

SMART Domains

Protein: ENSMUSP00000142914
Gene: ENSMUSG00000028029

Domain	Start	End	E-Value	Type
coiled coil region	8	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196963

Predicted Effect

probably benign
Transcript: ENSMUST00000197793

SMART Domains

Protein: ENSMUSP00000142534
Gene: ENSMUSG00000028029

Domain	Start	End	E-Value	Type
coiled coil region	8	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198147

Predicted Effect

probably benign
Transcript: ENSMUST00000198513

SMART Domains

Protein: ENSMUSP00000142513
Gene: ENSMUSG00000028029

Domain	Start	End	E-Value	Type
coiled coil region	8	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199638

Meta Mutation Damage Score

0.1362

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	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
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'- GACTACAAAATGTTTCCTCTGAAGG -3'
(R):5'- AAGGCACACACTTTTCCACTACTTTAG -3'

Sequencing Primer
(F):5'- CCTCTGAAGGATGCTGAGATG -3'
(R):5'- CAGTGAGACAGTAAGAGTCCCTTTC -3'

Posted On

2016-02-04