Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Tbck'

578751

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, 1700120J03Rik, C030007I09Rik

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

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

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132389905-132547449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132458324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 651 (N651K)

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: N651K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: N651K

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 34,978,753 (GRCm39)	K203*	probably null	Het
Akr1c13	T	C	13: 4,242,436 (GRCm39)		probably benign	Het
Amer3	A	G	1: 34,627,074 (GRCm39)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,070,543 (GRCm39)		probably null	Het
Art4	G	T	6: 136,831,848 (GRCm39)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,266,422 (GRCm39)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,625,030 (GRCm39)	Y503D	probably damaging	Het
Cd180	A	T	13: 102,841,503 (GRCm39)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,729,537 (GRCm39)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,457,780 (GRCm39)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Cfap77	G	T	2: 28,845,625 (GRCm39)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,972 (GRCm39)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,675,476 (GRCm39)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,667,402 (GRCm39)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,278,987 (GRCm39)	V77A	probably benign	Het
Col12a1	C	T	9: 79,562,689 (GRCm39)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,630,522 (GRCm39)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,784,482 (GRCm39)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,441,129 (GRCm39)	N690S	probably benign	Het
Dennd2b	A	G	7: 109,124,553 (GRCm39)	L1096P	probably damaging	Het
Dennd4c	A	G	4: 86,692,568 (GRCm39)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnai3	T	C	3: 145,761,373 (GRCm39)	D661G	probably benign	Het
Eef2k	A	G	7: 120,502,707 (GRCm39)		probably null	Het
Ephb2	C	T	4: 136,386,376 (GRCm39)	R791H	probably damaging	Het
Erh	T	C	12: 80,687,757 (GRCm39)	Y22C	probably benign	Het
F5	C	T	1: 164,020,897 (GRCm39)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,549,226 (GRCm39)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,201,258 (GRCm39)	N605K	probably damaging	Het
Ganab	C	A	19: 8,891,933 (GRCm39)	S780*	probably null	Het
Gbgt1	C	T	2: 28,392,219 (GRCm39)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,219,287 (GRCm39)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,860 (GRCm39)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,431,741 (GRCm39)	T38A	probably benign	Het
Ins1	A	G	19: 52,252,858 (GRCm39)		probably benign	Het
Ippk	T	C	13: 49,585,943 (GRCm39)		probably null	Het
Klc4	T	A	17: 46,950,836 (GRCm39)	I258F	probably benign	Het
Manba	C	A	3: 135,248,154 (GRCm39)	L348I	probably benign	Het
Mgam	A	G	6: 40,721,723 (GRCm39)	N347S	probably benign	Het
Myo18b	T	C	5: 112,871,758 (GRCm39)	T2108A	probably benign	Het
Naip5	A	T	13: 100,358,494 (GRCm39)	L914*	probably null	Het
Nsa2	C	T	13: 97,267,728 (GRCm39)	A242T	probably benign	Het
Nsd2	G	A	5: 34,039,491 (GRCm39)	W834*	probably null	Het
Or10q3	T	A	19: 11,847,680 (GRCm39)	D300V	possibly damaging	Het
Or5p50	A	T	7: 107,422,129 (GRCm39)	C182*	probably null	Het
Or5w1	T	C	2: 87,486,740 (GRCm39)	N175S	possibly damaging	Het
Or8s16	T	C	15: 98,211,261 (GRCm39)	M57V	probably damaging	Het
Pam	A	T	1: 97,769,972 (GRCm39)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,508,733 (GRCm39)	K864R	probably damaging	Het
Pip4p2	T	A	4: 14,912,477 (GRCm39)	Y195*	probably null	Het
Plcl2	A	G	17: 50,915,496 (GRCm39)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,073,356 (GRCm39)	A329S	probably damaging	Het
Prep	T	C	10: 45,026,534 (GRCm39)	V486A	probably benign	Het
Prkcb	A	T	7: 122,116,067 (GRCm39)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,356,059 (GRCm39)	F355S	probably damaging	Het
Psg20	C	T	7: 18,418,392 (GRCm39)	S125N	probably benign	Het
Psmd12	A	G	11: 107,382,883 (GRCm39)	D234G	probably benign	Het
Pvrig-ps	A	T	5: 138,340,270 (GRCm39)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,054,054 (GRCm39)		probably null	Het
Rfc1	A	T	5: 65,432,769 (GRCm39)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,757,302 (GRCm39)	D351G	probably benign	Het
Scart1	T	C	7: 139,800,619 (GRCm39)		probably null	Het
Serpinb9g	T	C	13: 33,679,150 (GRCm39)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,886,430 (GRCm39)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,835,686 (GRCm39)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,265,328 (GRCm39)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,634,960 (GRCm39)	L483F	possibly damaging	Het
Ston1	T	A	17: 88,943,329 (GRCm39)	M245K	probably benign	Het
Swap70	T	A	7: 109,873,979 (GRCm39)	D442E	probably benign	Het
Syne2	T	A	12: 76,092,960 (GRCm39)	V450D	possibly damaging	Het
Timd4	A	T	11: 46,708,585 (GRCm39)	T204S	probably benign	Het
Tmem102	A	G	11: 69,695,711 (GRCm39)	L87P	probably damaging	Het
Tmprss11e	T	A	5: 86,857,339 (GRCm39)	T325S	probably benign	Het
Trpm1	G	A	7: 63,890,330 (GRCm39)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Wdr35	G	A	12: 9,055,773 (GRCm39)	V482I	probably benign	Het
Zer1	T	C	2: 29,991,496 (GRCm39)		probably null	Het
Zfp503	T	C	14: 22,036,079 (GRCm39)	D279G	probably benign	Het
Zfp870	A	T	17: 33,102,736 (GRCm39)	C198S	possibly damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve26	C	T	12: 79,334,581 (GRCm39)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,719,357 (GRCm39)	V459A	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
R1135:Tbck	UTSW	3	132,437,952 (GRCm39)	missense	probably damaging	0.97
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
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

PCR Primer
(F):5'- CTGTCAAGCATTTTATCAGCACAG -3'
(R):5'- AGAAGGATTTTCTCACATGGCTG -3'

Sequencing Primer
(F):5'- CAAGCATTTTATCAGCACAGTTTAAC -3'
(R):5'- TCTCACATGGCTGAGAGAACAC -3'

Posted On

2019-10-07