Mutagenetix > Incidental Mutation

Incidental Mutation 'R7609:Tbk1'

588502

Institutional Source

Beutler Lab

Gene Symbol

Tbk1

Ensembl Gene

ENSMUSG00000020115

Gene Name

TANK-binding kinase 1

Synonyms

1200008B05Rik

MMRRC Submission

045714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121382360-121422692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121388406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 590 (L590S)

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 damaging
Transcript: ENSMUST00000020316
AA Change: L590S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: L590S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (69/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,896,744 (GRCm39)	Y288C	probably benign	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Agl	C	A	3: 116,600,928 (GRCm39)	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,612,833 (GRCm39)	T253A	probably benign	Het
Ankrd39	G	A	1: 36,578,546 (GRCm39)	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,568,348 (GRCm39)	T57M	probably damaging	Het
Baz2b	A	G	2: 59,792,817 (GRCm39)	L437S	probably benign	Het
Bcl9l	T	A	9: 44,417,044 (GRCm39)	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,874,482 (GRCm39)	P546T	probably damaging	Het
Cfap61	T	C	2: 145,954,453 (GRCm39)	C231R	unknown	Het
Cnih4	T	C	1: 180,983,467 (GRCm39)	L61P	probably damaging	Het
Dtx4	A	G	19: 12,469,645 (GRCm39)	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Ercc6	A	G	14: 32,288,318 (GRCm39)	H830R	probably benign	Het
Exoc7	T	C	11: 116,180,085 (GRCm39)	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,806,850 (GRCm39)	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,676,310 (GRCm39)	F76I	probably benign	Het
Igsf9b	A	G	9: 27,257,186 (GRCm39)	D1413G	probably benign	Het
Klk1b8	G	A	7: 43,451,603 (GRCm39)	C198Y	probably damaging	Het
Lama3	G	T	18: 12,664,891 (GRCm39)		probably null	Het
Lce3f	A	T	3: 92,900,403 (GRCm39)	S75C	unknown	Het
Ldhal6b	T	C	17: 5,468,266 (GRCm39)	M223V	probably benign	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Mc1r	A	T	8: 124,135,032 (GRCm39)	I262F	probably damaging	Het
Mecom	A	G	3: 30,010,591 (GRCm39)	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,563,687 (GRCm39)	V116A	possibly damaging	Het
Mtcl3	A	T	10: 29,024,224 (GRCm39)	D380V	probably damaging	Het
Muc5b	T	A	7: 141,415,466 (GRCm39)	V2804D	possibly damaging	Het
Myo15a	T	C	11: 60,379,637 (GRCm39)	V279A		Het
Nhlrc2	A	G	19: 56,583,328 (GRCm39)	I600V	probably benign	Het
Nipbl	T	C	15: 8,335,356 (GRCm39)	Q2183R	probably benign	Het
Obscn	C	T	11: 58,891,125 (GRCm39)	E7136K	unknown	Het
Or10ag56	T	C	2: 87,139,853 (GRCm39)	V260A	probably benign	Het
Or5p4	T	A	7: 107,680,753 (GRCm39)	F251I	probably damaging	Het
Or8c9	A	C	9: 38,241,520 (GRCm39)	L209F	possibly damaging	Het
Or8g37	C	T	9: 39,731,583 (GRCm39)	T216I	probably benign	Het
Otop3	T	C	11: 115,230,546 (GRCm39)	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,622,881 (GRCm39)	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,327,382 (GRCm39)	V193A	probably benign	Het
Phf3	T	C	1: 30,844,582 (GRCm39)	Y1459C	probably benign	Het
Pias4	A	T	10: 80,993,860 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,284,852 (GRCm39)	N159S	probably benign	Het
Plekha7	T	C	7: 115,763,681 (GRCm39)	D307G	probably benign	Het
Ptprd	T	C	4: 75,990,240 (GRCm39)	K491E	probably benign	Het
Rbpjl	A	T	2: 164,247,734 (GRCm39)	R62S	probably benign	Het
Rgs11	T	C	17: 26,426,415 (GRCm39)	S245P	probably damaging	Het
Ripor3	G	A	2: 167,826,490 (GRCm39)	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,276,940 (GRCm39)	P13S	possibly damaging	Het
Saxo5	A	T	8: 3,526,057 (GRCm39)	H70L	probably benign	Het
Scin	C	T	12: 40,174,588 (GRCm39)	C165Y	probably damaging	Het
Senp7	T	C	16: 55,932,000 (GRCm39)	W100R	probably benign	Het
Slc26a2	T	C	18: 61,331,532 (GRCm39)	D633G	probably benign	Het
Slc4a4	C	T	5: 89,283,545 (GRCm39)	P446S	probably damaging	Het
Spag17	T	A	3: 100,002,911 (GRCm39)	C1878*	probably null	Het
Ssc5d	A	G	7: 4,930,575 (GRCm39)	E129G	possibly damaging	Het
Supt6	T	C	11: 78,117,777 (GRCm39)	N480D	probably benign	Het
Tmem63a	T	A	1: 180,780,539 (GRCm39)		probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trio	A	G	15: 27,912,728 (GRCm39)	S109P	unknown	Het
Tsga10	A	T	1: 37,843,974 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,626,107 (GRCm39)	L14984*	probably null	Het
Tyr	T	C	7: 87,133,092 (GRCm39)	T325A	probably benign	Het
U2surp	A	T	9: 95,367,732 (GRCm39)		probably null	Het
Uba6	C	A	5: 86,294,934 (GRCm39)	K368N	probably benign	Het
Upb1	A	G	10: 75,272,035 (GRCm39)	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,455 (GRCm39)	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,023,748 (GRCm39)	K541R	probably damaging	Het
Wrn	A	G	8: 33,800,741 (GRCm39)	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,820,066 (GRCm39)	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,819,588 (GRCm39)	H105L	probably benign	Het

Other mutations in Tbk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Tbk1	APN	10	121,388,155 (GRCm39)	missense	probably benign	0.00
IGL01021:Tbk1	APN	10	121,387,177 (GRCm39)	missense	probably benign	0.07
IGL01371:Tbk1	APN	10	121,395,776 (GRCm39)	missense	probably benign	0.09
IGL01383:Tbk1	APN	10	121,412,184 (GRCm39)	missense	probably damaging	1.00
IGL01583:Tbk1	APN	10	121,393,134 (GRCm39)	missense	probably benign
IGL01734:Tbk1	APN	10	121,407,888 (GRCm39)	nonsense	probably null
IGL02068:Tbk1	APN	10	121,406,694 (GRCm39)	missense	probably damaging	1.00
IGL02676:Tbk1	APN	10	121,403,985 (GRCm39)	missense	possibly damaging	0.82
IGL02737:Tbk1	APN	10	121,395,767 (GRCm39)	missense	probably null	0.96
IGL03334:Tbk1	APN	10	121,420,104 (GRCm39)	missense	possibly damaging	0.79
Pathfinder	UTSW	10	121,388,406 (GRCm39)	missense	probably damaging	0.98
pioneer	UTSW	10	121,414,595 (GRCm39)	missense	probably damaging	1.00
trailblazer	UTSW	10	121,406,590 (GRCm39)	missense	probably damaging	1.00
BB006:Tbk1	UTSW	10	121,393,138 (GRCm39)	missense	probably benign	0.00
BB016:Tbk1	UTSW	10	121,393,138 (GRCm39)	missense	probably benign	0.00
R0030:Tbk1	UTSW	10	121,397,529 (GRCm39)	missense	probably benign	0.09
R0386:Tbk1	UTSW	10	121,420,159 (GRCm39)	missense	probably damaging	0.96
R1396:Tbk1	UTSW	10	121,407,821 (GRCm39)	missense	probably damaging	1.00
R1430:Tbk1	UTSW	10	121,395,839 (GRCm39)	missense	probably benign
R1522:Tbk1	UTSW	10	121,387,223 (GRCm39)	missense	probably benign	0.06
R1542:Tbk1	UTSW	10	121,395,840 (GRCm39)	missense	probably benign
R1717:Tbk1	UTSW	10	121,397,550 (GRCm39)	missense	probably benign	0.10
R1860:Tbk1	UTSW	10	121,383,076 (GRCm39)	missense	probably benign	0.01
R2188:Tbk1	UTSW	10	121,399,836 (GRCm39)	nonsense	probably null
R2519:Tbk1	UTSW	10	121,393,164 (GRCm39)	missense	probably benign	0.03
R4627:Tbk1	UTSW	10	121,403,985 (GRCm39)	missense	possibly damaging	0.82
R4945:Tbk1	UTSW	10	121,387,174 (GRCm39)	missense	probably damaging	0.98
R5061:Tbk1	UTSW	10	121,412,241 (GRCm39)	missense	possibly damaging	0.62
R5256:Tbk1	UTSW	10	121,406,590 (GRCm39)	missense	probably damaging	1.00
R5310:Tbk1	UTSW	10	121,391,956 (GRCm39)	missense	probably benign	0.00
R6187:Tbk1	UTSW	10	121,420,148 (GRCm39)	missense	probably benign	0.02
R6425:Tbk1	UTSW	10	121,399,867 (GRCm39)	missense	probably benign	0.00
R6512:Tbk1	UTSW	10	121,414,526 (GRCm39)	missense	probably damaging	1.00
R6897:Tbk1	UTSW	10	121,395,782 (GRCm39)	missense	probably benign	0.00
R7268:Tbk1	UTSW	10	121,388,404 (GRCm39)	missense	probably benign	0.03
R7860:Tbk1	UTSW	10	121,388,151 (GRCm39)	missense	possibly damaging	0.55
R7929:Tbk1	UTSW	10	121,393,138 (GRCm39)	missense	probably benign	0.00
R8378:Tbk1	UTSW	10	121,414,597 (GRCm39)	missense	probably damaging	0.96
R9680:Tbk1	UTSW	10	121,389,841 (GRCm39)	missense	probably benign	0.00
X0022:Tbk1	UTSW	10	121,396,198 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCCTGGAAACTCACTCAGAG -3'
(R):5'- ACCTCTGCTGTGCTTACAGG -3'

Sequencing Primer
(F):5'- CTCACTCAGAGTACACAGCACACTG -3'
(R):5'- TTACAGGGGGCATCCGATG -3'

Posted On

2019-10-24