Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121382360-121422692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121412241 bp (GRCm39)

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]

AlphaFold

Q9WUN2

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 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		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
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
R7609:Tbk1	UTSW	10	121,388,406 (GRCm39)	missense	probably damaging	0.98
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'- CTTCCTGTTAGGCACTGTGC -3'
(R):5'- GACAGTTCACGGTGACTGTCAC -3'

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

Posted On

2016-06-06