Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Tbck'

673735

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, C030007I09Rik, 1700120J03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132684144-132841688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132838057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 890 (S890P)

Ref Sequence

ENSEMBL: ENSMUSP00000129205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169172]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000169172
AA Change: S890P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: S890P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	G	A	13: 64,297,300	Q170*	probably null	Het
Abca7	T	A	10: 80,008,971	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,883,356	D376G	probably damaging	Het
Agbl1	A	G	7: 76,335,311	T159A		Het
Ahnak2	G	A	12: 112,787,036	R89W		Het
Arhgef40	A	C	14: 52,003,708	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,248,176	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,545	F105I	probably damaging	Het
Atp9b	C	T	18: 80,765,800	E635K		Het
BC017643	C	T	11: 121,228,723		probably benign	Het
Brix1	T	A	15: 10,479,596	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,230,418		probably benign	Het
Cfap46	A	G	7: 139,615,649	S2208P	unknown	Het
Crisp1	T	A	17: 40,294,419	K234*	probably null	Het
Cryzl1	C	T	16: 91,712,204	V70I	probably benign	Het
Dnah7b	T	C	1: 46,191,793	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,771,199	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,309,508	H329P	unknown	Het
Erbb4	A	T	1: 68,075,468	L939Q	probably damaging	Het
Fst	A	T	13: 114,455,828	C118S	probably damaging	Het
Gfra3	A	G	18: 34,711,136	V117A	possibly damaging	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Gm5538	A	T	3: 59,747,323	T193S	probably benign	Het
Gm996	T	G	2: 25,577,250	D883A		Het
Greb1	A	G	12: 16,688,519	M1481T	probably benign	Het
Hecw2	G	A	1: 53,891,146	R1045C	probably damaging	Het
Hexb	C	T	13: 97,194,254	V84I	probably benign	Het
Hpse	T	C	5: 100,695,586	E240G	probably benign	Het
Hspa12a	T	C	19: 58,805,463	D322G	possibly damaging	Het
Hspa9	A	T	18: 34,948,104		probably null	Het
Kif9	A	G	9: 110,524,930	K790R	probably damaging	Het
Klc2	C	T	19: 5,110,366		probably null	Het
Ldha	C	G	7: 46,850,278	N144K	probably benign	Het
Micalcl	A	G	7: 112,381,196	T126A	probably benign	Het
Mrpl15	A	T	1: 4,782,584	V137D	probably damaging	Het
Muc16	G	A	9: 18,646,069	T2976I	unknown	Het
Mybpc2	A	T	7: 44,512,541	V495D	probably damaging	Het
Olfr597	A	G	7: 103,321,005	K198R		Het
Olfr713	A	G	7: 107,036,682	N176D	probably benign	Het
Olfr772	A	T	10: 129,174,846	Y58*	probably null	Het
Pcnt	G	A	10: 76,382,174	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,033,073	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,350,603	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,521,803	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,378,498	T84S		Het
Ptprq	A	G	10: 107,586,695	V1612A	possibly damaging	Het
Pvrig	T	G	5: 138,342,148		probably benign	Het
Rasl10b	A	T	11: 83,412,676	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,209,006	V98E	probably damaging	Het
Rims2	T	C	15: 39,437,362	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,736,015	H30R	probably benign	Het
Slc28a1	G	A	7: 81,161,046	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,644,574		probably benign	Het
Spag17	T	A	3: 100,125,435	H2320Q	possibly damaging	Het
Speer4a	T	C	5: 26,036,795	E111G	possibly damaging	Het
Ss18l1	T	C	2: 180,067,338	Y397H	unknown	Het
Tcp11	T	C	17: 28,080,230	E17G	probably benign	Het
Tesk2	C	T	4: 116,802,287	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383	N45S	probably benign	Het
Trim10	C	T	17: 36,869,954	P26S	probably damaging	Het
Vmac	C	A	17: 56,715,573	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,234,032	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,244,836	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 12,153,191	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,466,862	Q261*	probably null	Het
Ybx2	A	G	11: 69,936,237	K88R	probably benign	Het
Zfhx4	G	A	3: 5,398,889	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,774,927	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,223,316	E650G	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
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
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'- TGAGCTATGCAAAAGTGACAGC -3'
(R):5'- GAGCAATCAAATTTCTTGCCTAGC -3'

Sequencing Primer
(F):5'- ATAAAAATGCCTTTGTCTCTCCCTG -3'
(R):5'- TAGCTAGGCGACCATTTGAGTCAC -3'

Posted On

2021-07-15