Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Tbck'

372303

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, C030007I09Rik, 1700120J03Rik

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132684144-132841688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132801527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 753 (S753R)

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
AA Change: S753R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: S753R

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

noncoding transcript
Transcript: ENSMUST00000196491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196989

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	G	T	11: 29,825,178 (GRCm38)	A93E	probably damaging	Het
Adam25	T	A	8: 40,754,543 (GRCm38)	V282E	probably benign	Het
Adam26b	T	C	8: 43,520,259 (GRCm38)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,545,989 (GRCm38)	N661D	probably damaging	Het
Adck1	G	A	12: 88,441,095 (GRCm38)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,558,213 (GRCm38)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 45,147,307 (GRCm38)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,473,993 (GRCm38)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,469,393 (GRCm38)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,945,980 (GRCm38)	T743S	probably benign	Het
Bag2	G	T	1: 33,746,941 (GRCm38)	T100K	probably damaging	Het
Camk2a	A	G	18: 60,943,174 (GRCm38)		probably benign	Het
Ccdc158	A	G	5: 92,633,403 (GRCm38)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,725,430 (GRCm38)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,332 (GRCm38)	V405A	probably benign	Het
Ces2g	T	C	8: 104,967,462 (GRCm38)		probably null	Het
Cfap157	A	G	2: 32,777,542 (GRCm38)	F510L	probably benign	Het
Chd3	A	T	11: 69,359,896 (GRCm38)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,627,464 (GRCm38)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,992,569 (GRCm38)	V1371A	probably damaging	Het
Dars2	A	G	1: 161,044,990 (GRCm38)	L547P	probably damaging	Het
Dis3	A	G	14: 99,087,790 (GRCm38)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,356,602 (GRCm38)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 66,829,439 (GRCm38)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,682,173 (GRCm38)	F509L	probably benign	Het
Evc	T	C	5: 37,300,909 (GRCm38)	T85A	probably damaging	Het
Fam196b	A	G	11: 34,403,154 (GRCm38)	S399G	probably benign	Het
Farsb	T	C	1: 78,467,972 (GRCm38)	T283A	probably benign	Het
Fgf14	C	A	14: 124,192,433 (GRCm38)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,478,401 (GRCm38)	L363P	probably damaging	Het
Gcg	A	G	2: 62,476,845 (GRCm38)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,200,319 (GRCm38)		probably benign	Het
Gm11757	A	G	4: 73,887,220 (GRCm38)	S351P	probably damaging	Het
Gm5431	T	C	11: 48,889,582 (GRCm38)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,895,348 (GRCm38)	S1089P	probably benign	Het
Hgd	T	C	16: 37,588,749 (GRCm38)	L25P	probably damaging	Het
Hnf1a	T	C	5: 114,955,252 (GRCm38)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,967,257 (GRCm38)	V71G	possibly damaging	Het
Hydin	T	C	8: 110,506,494 (GRCm38)	S1742P	possibly damaging	Het
Kank2	T	C	9: 21,779,782 (GRCm38)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,716,613 (GRCm38)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,627,605 (GRCm38)	*201W	probably null	Het
Kndc1	T	C	7: 139,921,905 (GRCm38)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643 (GRCm38)		probably null	Het
Lonp1	A	G	17: 56,626,587 (GRCm38)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,541,740 (GRCm38)	K189E	possibly damaging	Het
Msh2	G	A	17: 87,718,759 (GRCm38)	V722I	possibly damaging	Het
N4bp2	T	C	5: 65,825,298 (GRCm38)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,436,037 (GRCm38)	K862T	probably damaging	Het
Notch4	A	T	17: 34,587,180 (GRCm38)	Q1750L	probably damaging	Het
Obscn	C	T	11: 59,082,023 (GRCm38)	V2066I	possibly damaging	Het
Olfr1031	T	C	2: 85,992,731 (GRCm38)	S305P	probably damaging	Het
Olfr1211	T	A	2: 88,930,283 (GRCm38)	I11L	probably benign	Het
Olfr1307	A	T	2: 111,944,811 (GRCm38)	I215N	probably damaging	Het
Olfr1396	T	C	11: 49,113,166 (GRCm38)	K187E	probably damaging	Het
Olfr607	A	T	7: 103,461,036 (GRCm38)	Y57*	probably null	Het
Pde7a	T	A	3: 19,241,491 (GRCm38)		probably benign	Het
Pign	A	T	1: 105,648,167 (GRCm38)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,026,464 (GRCm38)	E87D	probably damaging	Het
Prss3	T	A	6: 41,373,923 (GRCm38)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,636,163 (GRCm38)	E413G	probably benign	Het
Rnf150	A	G	8: 82,864,083 (GRCm38)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,581,651 (GRCm38)		probably null	Het
Scap	T	A	9: 110,374,342 (GRCm38)		probably benign	Het
Sdc2	A	C	15: 33,032,456 (GRCm38)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,667,564 (GRCm38)		probably null	Het
Sh3tc2	A	G	18: 62,013,093 (GRCm38)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,348,145 (GRCm38)	I46T	probably damaging	Het
Slfn8	A	G	11: 83,017,714 (GRCm38)	M1T	probably null	Het
Slitrk6	T	C	14: 110,751,883 (GRCm38)	T131A	probably damaging	Het
Soga3	A	C	10: 29,150,394 (GRCm38)	M491L	probably benign	Het
Spata1	C	G	3: 146,469,774 (GRCm38)	D326H	probably damaging	Het
Tdp1	A	G	12: 99,909,811 (GRCm38)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,446,677 (GRCm38)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,365,010 (GRCm38)	S701T	probably benign	Het
Trbv17	A	T	6: 41,163,289 (GRCm38)	N26I	probably benign	Het
Trip12	A	T	1: 84,793,810 (GRCm38)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,601,403 (GRCm38)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 86,148,403 (GRCm38)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,665,495 (GRCm38)	M14K	probably null	Het
Xcr1	T	A	9: 123,856,647 (GRCm38)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,988,759 (GRCm38)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,723,530 (GRCm38)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,723,535 (GRCm38)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,828,713 (GRCm38)		noncoding transcript	Het
Zyg11a	A	T	4: 108,210,190 (GRCm38)	I41N	probably damaging	Het

Other mutations in Tbck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Tbck	APN	3	132,743,093 (GRCm38)	splice site	probably null
IGL00492:Tbck	APN	3	132,722,740 (GRCm38)	missense	probably benign	0.00
IGL01020:Tbck	APN	3	132,727,142 (GRCm38)	nonsense	probably null
IGL01111:Tbck	APN	3	132,694,407 (GRCm38)	missense	probably damaging	1.00
IGL01299:Tbck	APN	3	132,724,877 (GRCm38)	missense	probably damaging	0.98
IGL02456:Tbck	APN	3	132,734,714 (GRCm38)	splice site	probably benign
IGL02554:Tbck	APN	3	132,751,192 (GRCm38)	nonsense	probably null
IGL02640:Tbck	APN	3	132,774,486 (GRCm38)	missense	probably benign	0.26
IGL02960:Tbck	APN	3	132,722,783 (GRCm38)	missense	probably benign	0.01
IGL03184:Tbck	APN	3	132,736,103 (GRCm38)	missense	probably damaging	1.00
IGL03246:Tbck	APN	3	132,774,570 (GRCm38)	missense	probably benign
fear-4	UTSW	3	132,724,916 (GRCm38)	critical splice donor site	probably null
Fuerchte	UTSW	3	132,722,291 (GRCm38)	splice site	probably benign
PIT1430001:Tbck	UTSW	3	132,722,726 (GRCm38)	missense	probably benign
PIT4802001:Tbck	UTSW	3	132,752,666 (GRCm38)	missense	probably damaging	1.00
R0113:Tbck	UTSW	3	132,743,080 (GRCm38)	missense	probably damaging	1.00
R0241:Tbck	UTSW	3	132,724,875 (GRCm38)	missense	probably benign
R0241:Tbck	UTSW	3	132,724,875 (GRCm38)	missense	probably benign
R0309:Tbck	UTSW	3	132,734,407 (GRCm38)	nonsense	probably null
R0375:Tbck	UTSW	3	132,751,232 (GRCm38)	splice site	probably benign
R0571:Tbck	UTSW	3	132,752,642 (GRCm38)	missense	probably damaging	1.00
R0831:Tbck	UTSW	3	132,722,291 (GRCm38)	splice site	probably benign
R1135:Tbck	UTSW	3	132,732,191 (GRCm38)	missense	probably damaging	0.97
R1184:Tbck	UTSW	3	132,837,972 (GRCm38)	missense	probably benign	0.01
R1560:Tbck	UTSW	3	132,838,048 (GRCm38)	missense	probably damaging	1.00
R1563:Tbck	UTSW	3	132,715,693 (GRCm38)	missense	possibly damaging	0.94
R1659:Tbck	UTSW	3	132,734,355 (GRCm38)	missense	probably damaging	1.00
R1799:Tbck	UTSW	3	132,774,502 (GRCm38)	missense	probably benign	0.01
R1830:Tbck	UTSW	3	132,838,011 (GRCm38)	missense	probably benign	0.40
R1884:Tbck	UTSW	3	132,724,916 (GRCm38)	critical splice donor site	probably null
R3406:Tbck	UTSW	3	132,727,084 (GRCm38)	missense	probably benign	0.41
R4021:Tbck	UTSW	3	132,727,134 (GRCm38)	missense	probably damaging	0.97
R4205:Tbck	UTSW	3	132,838,028 (GRCm38)	missense	probably benign	0.32
R4503:Tbck	UTSW	3	132,751,220 (GRCm38)	missense	probably benign	0.03
R4794:Tbck	UTSW	3	132,686,968 (GRCm38)	missense	possibly damaging	0.90
R4795:Tbck	UTSW	3	132,707,798 (GRCm38)	missense	possibly damaging	0.95
R5282:Tbck	UTSW	3	132,751,216 (GRCm38)	missense	possibly damaging	0.95
R5787:Tbck	UTSW	3	132,737,568 (GRCm38)	missense	probably damaging	1.00
R5987:Tbck	UTSW	3	132,801,517 (GRCm38)	missense	possibly damaging	0.53
R6145:Tbck	UTSW	3	132,732,215 (GRCm38)	missense	probably damaging	1.00
R6147:Tbck	UTSW	3	132,694,446 (GRCm38)	missense	probably benign
R6242:Tbck	UTSW	3	132,694,428 (GRCm38)	missense	probably benign	0.16
R6276:Tbck	UTSW	3	132,743,005 (GRCm38)	missense	probably damaging	1.00
R6912:Tbck	UTSW	3	132,686,942 (GRCm38)	missense	possibly damaging	0.50
R7107:Tbck	UTSW	3	132,722,331 (GRCm38)	missense	possibly damaging	0.73
R7191:Tbck	UTSW	3	132,737,555 (GRCm38)	missense	probably damaging	1.00
R7466:Tbck	UTSW	3	132,752,563 (GRCm38)	missense	probably damaging	0.99
R7719:Tbck	UTSW	3	132,734,728 (GRCm38)	missense	probably damaging	1.00
R8371:Tbck	UTSW	3	132,752,524 (GRCm38)	missense	possibly damaging	0.47
R8757:Tbck	UTSW	3	132,686,826 (GRCm38)	missense	probably benign
R8830:Tbck	UTSW	3	132,838,057 (GRCm38)	missense	probably damaging	1.00
R8997:Tbck	UTSW	3	132,734,345 (GRCm38)	critical splice acceptor site	probably null
R9069:Tbck	UTSW	3	132,722,369 (GRCm38)	critical splice donor site	probably null
R9301:Tbck	UTSW	3	132,837,977 (GRCm38)	missense	probably benign	0.26
R9525:Tbck	UTSW	3	132,751,205 (GRCm38)	missense	probably damaging	0.98
R9591:Tbck	UTSW	3	132,694,434 (GRCm38)	missense	probably benign	0.38
R9657:Tbck	UTSW	3	132,715,690 (GRCm38)	missense	probably damaging	1.00
X0018:Tbck	UTSW	3	132,686,800 (GRCm38)	start codon destroyed	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCTGTTGAGTAAGGAGTACAGC -3'
(R):5'- TGCTTTCACCACACACTGAC -3'

Sequencing Primer
(F):5'- CTGTTGAGTAAGGAGTACAGCTATAC -3'
(R):5'- ACACAGGAGTAGGGCCCTG -3'

Posted On

2016-03-01