|Institutional Source||Beutler Lab|
|Gene Name||TANK-binding kinase 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7609 (G1)|
|Chromosomal Location||121546455-121586787 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 121552501 bp|
|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]|
|Predicted Effect||probably damaging
AA Change: L590S
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: L590S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||96% (69/72)|
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|
|Other mutations in this stock||
|Other mutations in Tbk1||
(F):5'- CCTCCTGGAAACTCACTCAGAG -3'
(R):5'- ACCTCTGCTGTGCTTACAGG -3'
(F):5'- CTCACTCAGAGTACACAGCACACTG -3'
(R):5'- TTACAGGGGGCATCCGATG -3'