Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Tbk1'

167541

Institutional Source

Beutler Lab

Gene Symbol

Tbk1

Ensembl Gene

ENSMUSG00000020115

Gene Name

TANK-binding kinase 1

Synonyms

1200008B05Rik

MMRRC Submission

040871-MU

Accession Numbers

MGI: 1929658

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121546455-121586787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121551318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 691 (K691E)

Ref Sequence

ENSEMBL: ENSMUSP00000020316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020316] [ENSMUST00000219400]

AlphaFold

Q9WUN2

PDB Structure

Crystal structure of mouse TBK1 bound to BX795 [X-RAY DIFFRACTION]
Crystal structure of mouse TBK1 bound to SU6668 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020316
AA Change: K691E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: K691E

Domain	Start	End	E-Value	Type
Pfam:Pkinase	9	300	2.6e-46	PFAM
Pfam:Pkinase_Tyr	10	250	1.5e-27	PFAM
low complexity region	355	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220386

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Targeted(5) Gene trapped(18)

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Ush2a	T	C	1: 188,797,814	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Tbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Tbk1	APN	10	121552250	missense	probably benign	0.00
IGL01021:Tbk1	APN	10	121551272	missense	probably benign	0.07
IGL01371:Tbk1	APN	10	121559871	missense	probably benign	0.09
IGL01383:Tbk1	APN	10	121576279	missense	probably damaging	1.00
IGL01583:Tbk1	APN	10	121557229	missense	probably benign
IGL01734:Tbk1	APN	10	121571983	nonsense	probably null
IGL02068:Tbk1	APN	10	121570789	missense	probably damaging	1.00
IGL02676:Tbk1	APN	10	121568080	missense	possibly damaging	0.82
IGL02737:Tbk1	APN	10	121559862	missense	probably null	0.96
IGL03334:Tbk1	APN	10	121584199	missense	possibly damaging	0.79
Pathfinder	UTSW	10	121552501	missense	probably damaging	0.98
pioneer	UTSW	10	121578690	missense	probably damaging	1.00
trailblazer	UTSW	10	121570685	missense	probably damaging	1.00
BB006:Tbk1	UTSW	10	121557233	missense	probably benign	0.00
BB016:Tbk1	UTSW	10	121557233	missense	probably benign	0.00
R0030:Tbk1	UTSW	10	121561624	missense	probably benign	0.09
R0386:Tbk1	UTSW	10	121584254	missense	probably damaging	0.96
R1396:Tbk1	UTSW	10	121571916	missense	probably damaging	1.00
R1430:Tbk1	UTSW	10	121559934	missense	probably benign
R1542:Tbk1	UTSW	10	121559935	missense	probably benign
R1717:Tbk1	UTSW	10	121561645	missense	probably benign	0.10
R1860:Tbk1	UTSW	10	121547171	missense	probably benign	0.01
R2188:Tbk1	UTSW	10	121563931	nonsense	probably null
R2519:Tbk1	UTSW	10	121557259	missense	probably benign	0.03
R4627:Tbk1	UTSW	10	121568080	missense	possibly damaging	0.82
R4945:Tbk1	UTSW	10	121551269	missense	probably damaging	0.98
R5061:Tbk1	UTSW	10	121576336	missense	possibly damaging	0.62
R5256:Tbk1	UTSW	10	121570685	missense	probably damaging	1.00
R5310:Tbk1	UTSW	10	121556051	missense	probably benign	0.00
R6187:Tbk1	UTSW	10	121584243	missense	probably benign	0.02
R6425:Tbk1	UTSW	10	121563962	missense	probably benign	0.00
R6512:Tbk1	UTSW	10	121578621	missense	probably damaging	1.00
R6897:Tbk1	UTSW	10	121559877	missense	probably benign	0.00
R7268:Tbk1	UTSW	10	121552499	missense	probably benign	0.03
R7609:Tbk1	UTSW	10	121552501	missense	probably damaging	0.98
R7860:Tbk1	UTSW	10	121552246	missense	possibly damaging	0.55
R7929:Tbk1	UTSW	10	121557233	missense	probably benign	0.00
R8378:Tbk1	UTSW	10	121578692	missense	probably damaging	0.96
R9680:Tbk1	UTSW	10	121553936	missense	probably benign	0.00
X0022:Tbk1	UTSW	10	121560293	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTACAGGCTCTCACAGGTTCC -3'
(R):5'- TCAGAAAATGCTCGCAGCCTCC -3'

Sequencing Primer
(F):5'- TCACAGGTTCCCCAATGC -3'
(R):5'- CAGCTCTAACACCTTAGTGGAGATG -3'

Posted On

2014-04-13