Mutagenetix > Incidental Mutation

Incidental Mutation 'R1799:Tbck'

202907

Institutional Source

Beutler Lab

Gene Symbol

Tbck

Ensembl Gene

ENSMUSG00000028030

Gene Name

TBC1 domain containing kinase

Synonyms

A630047E20Rik, 1700120J03Rik, C030007I09Rik

MMRRC Submission

039829-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R1799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132389905-132547449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 132480263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 714 (A714G)

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: A714G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000129205
Gene: ENSMUSG00000028030
AA Change: A714G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,382,435 (GRCm39)	L271P	probably benign	Het
Adamts3	A	C	5: 89,923,280 (GRCm39)	D175E	probably benign	Het
Adcy4	T	C	14: 56,008,929 (GRCm39)	T833A	probably benign	Het
Adgrf5	A	T	17: 43,750,958 (GRCm39)	I508F	probably damaging	Het
Arhgap9	G	T	10: 127,163,593 (GRCm39)	V464L	probably damaging	Het
Atp10a	T	A	7: 58,474,182 (GRCm39)	D1156E	probably damaging	Het
Atp2a1	A	T	7: 126,049,314 (GRCm39)	M576K	probably benign	Het
Atrx	T	C	X: 104,891,235 (GRCm39)	Q1536R	probably damaging	Het
Ccdc141	A	C	2: 76,842,015 (GRCm39)	V1472G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Celsr1	G	T	15: 85,916,886 (GRCm39)	N362K	probably damaging	Het
Cep290	G	A	10: 100,352,058 (GRCm39)	A755T	probably benign	Het
Cfap70	T	A	14: 20,445,067 (GRCm39)	E1071V	probably damaging	Het
Cps1	T	C	1: 67,248,801 (GRCm39)	V1176A	probably damaging	Het
Csf2rb2	A	C	15: 78,181,268 (GRCm39)	N41K	probably damaging	Het
Csn1s2a	G	A	5: 87,926,052 (GRCm39)	V43M	probably damaging	Het
Cyp26b1	T	C	6: 84,561,254 (GRCm39)	D136G	probably benign	Het
Cyp7b1	A	G	3: 18,151,616 (GRCm39)	L199P	probably benign	Het
Dapk1	C	T	13: 60,867,468 (GRCm39)	T225I	probably damaging	Het
Dio2	T	A	12: 90,696,680 (GRCm39)	T103S	probably benign	Het
Dipk1a	C	A	5: 108,057,713 (GRCm39)	V237F	probably damaging	Het
Dnhd1	T	A	7: 105,304,974 (GRCm39)	S339T	probably benign	Het
Drc1	A	G	5: 30,523,841 (GRCm39)	N737D	probably damaging	Het
Efhc1	C	T	1: 21,049,762 (GRCm39)	P541S	probably benign	Het
Elmo2	A	T	2: 165,134,077 (GRCm39)	I637N	probably damaging	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ermn	G	T	2: 57,938,249 (GRCm39)	N121K	probably benign	Het
F5	A	G	1: 164,021,100 (GRCm39)	T1192A	possibly damaging	Het
Fbxo22	T	C	9: 55,130,771 (GRCm39)	F347L	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Foxj3	A	G	4: 119,476,548 (GRCm39)	N242S	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Grm4	A	G	17: 27,691,914 (GRCm39)	V235A	probably damaging	Het
Gstm4	T	C	3: 107,950,874 (GRCm39)	N74S	probably damaging	Het
Gtf3c3	A	G	1: 54,459,583 (GRCm39)	V393A	possibly damaging	Het
Hltf	T	A	3: 20,159,855 (GRCm39)	L702H	probably damaging	Het
Inpp4a	T	A	1: 37,432,059 (GRCm39)	V153E	possibly damaging	Het
Kmt5c	T	C	7: 4,745,729 (GRCm39)		probably null	Het
Kynu	A	G	2: 43,494,169 (GRCm39)	R201G	possibly damaging	Het
Lrp2	T	A	2: 69,333,874 (GRCm39)	T1456S	probably benign	Het
Lrrc40	G	A	3: 157,742,441 (GRCm39)	V19I	probably benign	Het
M1ap	T	A	6: 82,982,491 (GRCm39)	C258*	probably null	Het
Man2a1	T	C	17: 65,059,452 (GRCm39)	L1113P	probably benign	Het
Man2a1	C	T	17: 64,976,492 (GRCm39)	R427W	probably damaging	Het
Meikin	C	A	11: 54,308,613 (GRCm39)	Q404K	probably benign	Het
Mfsd4a	T	C	1: 131,981,334 (GRCm39)	I222V	possibly damaging	Het
N4bp2	A	G	5: 65,964,168 (GRCm39)	N739S	possibly damaging	Het
Ncoa2	A	T	1: 13,232,517 (GRCm39)		probably null	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,920,447 (GRCm39)	V266A	probably damaging	Het
Npcd	G	A	15: 79,712,987 (GRCm39)	R147C	probably damaging	Het
Or4q3	T	A	14: 50,583,537 (GRCm39)	M121L	probably benign	Het
Or5ac25	T	A	16: 59,182,243 (GRCm39)	I113F	probably benign	Het
Pals2	T	A	6: 50,173,525 (GRCm39)	M463K	probably damaging	Het
Parp4	A	T	14: 56,885,589 (GRCm39)	H1556L	unknown	Het
Pcdh9	G	T	14: 94,126,107 (GRCm39)	A21E	probably benign	Het
Phtf1	A	G	3: 103,903,958 (GRCm39)	E436G	probably benign	Het
Piezo2	C	A	18: 63,165,911 (GRCm39)		probably null	Het
Piezo2	T	C	18: 63,241,158 (GRCm39)	Y690C	probably damaging	Het
Pla2g4f	T	C	2: 120,141,549 (GRCm39)	R183G	possibly damaging	Het
Plxnd1	T	C	6: 115,971,018 (GRCm39)	D250G	probably damaging	Het
Ppig	A	G	2: 69,579,744 (GRCm39)	D426G	unknown	Het
Ppp3cb	T	C	14: 20,574,540 (GRCm39)	E185G	possibly damaging	Het
Qsox1	A	T	1: 155,670,364 (GRCm39)	M151K	probably null	Het
Ralgapa2	T	C	2: 146,184,648 (GRCm39)	E1453G	probably benign	Het
Rnf167	G	A	11: 70,540,838 (GRCm39)	V191I	probably benign	Het
Rp1	T	C	1: 4,419,055 (GRCm39)	K686E	possibly damaging	Het
Ryr1	T	G	7: 28,767,046 (GRCm39)	Q2979P	probably damaging	Het
Scaf1	T	A	7: 44,657,443 (GRCm39)	I479F	probably damaging	Het
Septin8	A	G	11: 53,425,310 (GRCm39)	T68A	probably benign	Het
Sh3rf1	A	T	8: 61,825,661 (GRCm39)	N552I	probably damaging	Het
Shoc1	A	T	4: 59,099,383 (GRCm39)	V103D	possibly damaging	Het
Slc1a3	A	G	15: 8,717,888 (GRCm39)	L68P	probably damaging	Het
Slc39a6	G	A	18: 24,718,524 (GRCm39)	P511L	probably benign	Het
Slc9c1	A	G	16: 45,374,652 (GRCm39)	Y339C	probably damaging	Het
Smarcal1	G	T	1: 72,625,120 (GRCm39)	C89F	probably damaging	Het
Smu1	A	T	4: 40,745,537 (GRCm39)	M261K	probably damaging	Het
Spag8	T	G	4: 43,653,087 (GRCm39)		probably benign	Het
Spag8	T	C	4: 43,653,345 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,216 (GRCm39)	D304G	probably benign	Het
Spdl1	A	T	11: 34,711,856 (GRCm39)	L298*	probably null	Het
Stac2	C	T	11: 97,930,444 (GRCm39)		probably null	Het
Stag1	A	G	9: 100,835,515 (GRCm39)		probably null	Het
Stpg2	C	T	3: 139,125,542 (GRCm39)	P445L	probably damaging	Het
Sult2a8	A	T	7: 14,157,451 (GRCm39)	V128E	probably damaging	Het
Synm	A	G	7: 67,385,707 (GRCm39)	F210L	probably damaging	Het
Tcerg1	A	T	18: 42,694,012 (GRCm39)	Y711F	possibly damaging	Het
Tnfrsf25	A	G	4: 152,201,465 (GRCm39)	T98A	probably benign	Het
Togaram2	T	C	17: 71,998,450 (GRCm39)	S218P	probably damaging	Het
Tpp1	A	T	7: 105,399,515 (GRCm39)	D84E	probably benign	Het
Trim30d	G	T	7: 104,132,682 (GRCm39)	Q202K	probably damaging	Het
Trim37	T	A	11: 87,068,845 (GRCm39)	V397E	probably damaging	Het
Triml1	A	T	8: 43,583,512 (GRCm39)	I363N	probably damaging	Het
Trpm6	T	A	19: 18,869,363 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,823,382 (GRCm39)	S1055G	probably benign	Het
Ubr5	T	C	15: 37,989,621 (GRCm39)	D2065G	probably damaging	Het
Uggt2	G	T	14: 119,269,688 (GRCm39)	P948Q	probably benign	Het
Vps13c	A	T	9: 67,851,399 (GRCm39)	S2345C	probably damaging	Het
Wtap	G	T	17: 13,199,771 (GRCm39)	R48S	possibly damaging	Het
Zbtb38	A	G	9: 96,570,934 (GRCm39)	V50A	probably damaging	Het
Zcchc2	T	A	1: 105,958,017 (GRCm39)	S829R	probably benign	Het
Zfp385b	T	C	2: 77,246,316 (GRCm39)	D237G	probably benign	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
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
R7466:Tbck	UTSW	3	132,458,324 (GRCm39)	missense	probably damaging	0.99
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'- AATCCCACACAAGATGAGATGG -3'
(R):5'- TAACTACACTGAAAGAACACGAGTG -3'

Sequencing Primer
(F):5'- ACCCTTATATTTCCAATCACTTATGC -3'
(R):5'- CACGAGTGACAGTATTATGATCAC -3'

Posted On

2014-06-23