Mutagenetix > Incidental Mutations

Incidental Mutation 'R5061:Tbk1'

386628

Institutional Source

Beutler Lab

Gene Symbol

Tbk1

Ensembl Gene

ENSMUSG00000020115

Gene Name

TANK-binding kinase 1

Synonyms

1200008B05Rik

MMRRC Submission

042651-MU

Accession Numbers

MGI: 1929658

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121546455-121586787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121576336 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 47 (E47A)

Ref Sequence

ENSEMBL: ENSMUSP00000151935 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020316
AA Change: E99A

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: E99A

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
AA Change: E99A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219493
AA Change: E47A

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.2329

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953	H53R	probably benign	Het
Abcg1	A	G	17: 31,092,392	K124E	probably damaging	Het
Acot4	G	T	12: 84,038,701	R64L	probably benign	Het
Adam22	G	C	5: 8,180,238		probably benign	Het
Add2	G	A	6: 86,087,047		probably null	Het
Adgrb3	G	A	1: 25,068,128		probably benign	Het
Akap8l	T	G	17: 32,332,894	K441T	probably damaging	Het
Aspn	T	A	13: 49,566,604	S365R	probably damaging	Het
Atxn1	T	G	13: 45,557,093	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,500,203	H135N	probably damaging	Het
Borcs8	T	G	8: 70,140,358		probably null	Het
Col5a1	G	A	2: 27,952,378	D422N	unknown	Het
Cstad	A	T	2: 30,608,263	T37S	unknown	Het
Dgkq	A	T	5: 108,654,123	D455E	probably benign	Het
Dopey1	T	C	9: 86,503,108		probably benign	Het
Ebf3	T	C	7: 137,313,559	I84V	possibly damaging	Het
Ehmt2	C	T	17: 34,899,091	R40*	probably null	Het
Eif3e	A	T	15: 43,252,261	W370R	probably damaging	Het
Eya3	T	A	4: 132,704,378	D323E	probably damaging	Het
F5	T	C	1: 164,194,180	L1408P	probably benign	Het
Gfod1	C	T	13: 43,200,516	G328S	probably benign	Het
Gja1	T	A	10: 56,387,656	L37Q	probably damaging	Het
Gm10650	T	A	3: 128,040,017		noncoding transcript	Het
Gm14226	T	A	2: 155,025,186	H354Q	probably benign	Het
Gm15056	T	C	8: 20,900,742	T60A	probably benign	Het
Gm6614	T	A	6: 142,008,688	M20L	probably benign	Het
Grrp1	T	C	4: 134,251,730	T146A	probably benign	Het
Hsd11b1	A	T	1: 193,242,245	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,880,122	I39M	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kdm7a	G	A	6: 39,151,452	P482S	possibly damaging	Het
Lama5	C	A	2: 180,198,786	E607*	probably null	Het
Lao1	T	A	4: 118,967,476	S252T	probably benign	Het
Lrp12	A	G	15: 39,878,254	F355S	probably damaging	Het
Mlycd	T	C	8: 119,410,304	F421S	probably damaging	Het
Nectin3	T	C	16: 46,448,449	E530G	probably benign	Het
Nifk	T	C	1: 118,332,939	*270R	probably null	Het
Ocln	T	C	13: 100,539,598	Y129C	probably damaging	Het
Olfr1130	C	T	2: 87,607,832	T148I	probably benign	Het
Olfr1278	T	A	2: 111,292,487	L73H	probably damaging	Het
Olfr1472	A	T	19: 13,453,985	C177*	probably null	Het
Olfr685	T	A	7: 105,180,657	I219F	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,519,126	G216C	probably damaging	Het
Ppcs	T	C	4: 119,419,215	K58E	probably damaging	Het
Prss38	T	C	11: 59,374,370	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,720,433		probably null	Het
Rbm18	A	G	2: 36,127,205	F54L	possibly damaging	Het
Rwdd3	G	A	3: 121,159,783		probably benign	Het
Ryr2	T	C	13: 11,635,536	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,713,532		probably null	Het
Serpinb10	A	G	1: 107,540,971	T115A	probably benign	Het
Slx4ip	T	G	2: 137,044,010	F83L	probably damaging	Het
St3gal1	A	T	15: 67,108,229	S274T	probably benign	Het
Stab1	A	C	14: 31,163,099	C121W	probably damaging	Het
Stab2	A	G	10: 86,907,385	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954	I77R	probably benign	Het
Tert	C	T	13: 73,634,278	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,552,027	D252G	probably damaging	Het
Tll1	C	A	8: 64,053,949	C586F	probably damaging	Het
Tln2	T	G	9: 67,354,468	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,320,542		probably null	Het
Unc79	T	A	12: 103,168,441	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,957,274	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,581,814	S693A	probably benign	Het
Vps54	G	A	11: 21,319,881		probably benign	Het
Znfx1	T	C	2: 167,065,398		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCTGTTAGGCACTGTGC -3'
(R):5'- GACAGTTCACGGTGACTGTCAC -3'

Sequencing Primer
(F):5'- CTGTTAGGCACTGTGCTTTTAC -3'
(R):5'- TGACTGTCACTGCAGCGTG -3'

Posted On

2016-06-06