Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02068:Tbk1'

185713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbk1

Ensembl Gene

ENSMUSG00000020115

Gene Name

TANK-binding kinase 1

Synonyms

1200008B05Rik

Accession Numbers

MGI: 1929658

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02068

Quality Score

Status

Chromosome

Chromosomal Location

121546455-121586787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121570789 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 181 (H181Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020316] [ENSMUST00000219400] [ENSMUST00000219493]

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: H181Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: H181Q

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

noncoding transcript
Transcript: ENSMUST00000219244

Predicted Effect

probably benign
Transcript: ENSMUST00000219400

Predicted Effect

probably benign
Transcript: ENSMUST00000219493

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,577,109	I140F	probably benign	Het
Cfap58	T	C	19: 47,986,512	L704P	probably damaging	Het
Cnnm2	T	C	19: 46,877,388	V805A	possibly damaging	Het
Dnah9	T	C	11: 66,061,045	E1876G	probably damaging	Het
Dock1	A	T	7: 134,771,548	E548V	probably benign	Het
Esm1	T	G	13: 113,210,096	F85C	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fcer1a	C	T	1: 173,225,504	G42R	probably damaging	Het
Fcer1g	A	T	1: 171,231,191	Y43N	probably damaging	Het
Grik1	G	T	16: 87,940,651	T585K	possibly damaging	Het
Hnf4g	T	C	3: 3,644,576	I184T	probably benign	Het
Hsd11b1	G	A	1: 193,222,046	R282*	probably null	Het
Lig1	T	A	7: 13,292,451		probably benign	Het
Olfr1402	T	C	3: 97,410,906	K92E	possibly damaging	Het
Phip	A	G	9: 82,945,808	S184P	probably damaging	Het
Pkhd1	C	T	1: 20,522,747	G1714D	probably damaging	Het
Plppr4	A	G	3: 117,331,784		probably benign	Het
Prdm10	G	A	9: 31,337,350	R356Q	probably damaging	Het
Rasgrp1	C	T	2: 117,300,578		probably benign	Het
Rpap1	C	T	2: 119,782,654	E138K	probably benign	Het
Sidt2	A	C	9: 45,945,664		probably null	Het
Slc28a3	A	G	13: 58,558,597	L610P	probably damaging	Het
Slc39a10	T	C	1: 46,819,439		probably benign	Het
Snx18	G	A	13: 113,617,065	A444V	probably damaging	Het
Svil	A	G	18: 5,092,899	E1459G	probably damaging	Het
Tbc1d9	T	C	8: 83,239,868	L366P	probably damaging	Het
Wrn	C	A	8: 33,310,749	G612V	probably benign	Het
Xdh	A	G	17: 73,913,950	Y595H	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
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
R1522:Tbk1	UTSW	10	121551318	missense	probably benign	0.06
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
X0022:Tbk1	UTSW	10	121560293	missense	probably benign

Posted On

2014-05-07