Incidental Mutation 'R0030:Tbk1'
ID 15295
Institutional Source Beutler Lab
Gene Symbol Tbk1
Ensembl Gene ENSMUSG00000020115
Gene Name TANK-binding kinase 1
Synonyms 1200008B05Rik
MMRRC Submission 038324-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0030 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 121382360-121422692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121397529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 381 (V381A)
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 benign
Transcript: ENSMUST00000020316
AA Change: V381A

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: V381A

DomainStartEndE-ValueType
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: ENSMUST00000218460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219244
Predicted Effect probably benign
Transcript: ENSMUST00000219400
Meta Mutation Damage Score 0.1121 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 68.6%
  • 10x: 42.5%
  • 20x: 22.6%
Validation Efficiency 97% (72/74)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A C 6: 140,583,473 (GRCm39) S316R probably damaging Het
Brwd1 A G 16: 95,822,456 (GRCm39) S1250P probably damaging Het
Cacna1s T C 1: 136,022,727 (GRCm39) probably null Het
Cass4 G T 2: 172,269,762 (GRCm39) E617* probably null Het
Cct4 T C 11: 22,951,357 (GRCm39) probably benign Het
Cdh20 C T 1: 110,065,798 (GRCm39) Q691* probably null Het
Crip1 G A 12: 113,116,996 (GRCm39) probably null Het
Dnah5 A T 15: 28,451,663 (GRCm39) D4367V probably benign Het
Dock3 A G 9: 106,789,512 (GRCm39) V1514A possibly damaging Het
Eps15l1 A G 8: 73,126,894 (GRCm39) S646P probably benign Het
Faap24 A T 7: 35,092,285 (GRCm39) F211I probably damaging Het
Flrt3 A T 2: 140,502,237 (GRCm39) Y464N probably damaging Het
Foxi2 A G 7: 135,013,345 (GRCm39) T192A probably damaging Het
Gm7298 T A 6: 121,751,009 (GRCm39) F695L probably benign Het
Ifnk T G 4: 35,152,489 (GRCm39) V139G probably benign Het
Kif18a A T 2: 109,163,663 (GRCm39) I671L probably benign Het
Lcn10 T C 2: 25,575,093 (GRCm39) F154L probably damaging Het
Med12l T G 3: 59,156,076 (GRCm39) L1198R probably damaging Het
Mmp23 G A 4: 155,735,768 (GRCm39) R268* probably null Het
Mrps30 T C 13: 118,519,531 (GRCm39) D298G possibly damaging Het
Myh7 T A 14: 55,229,427 (GRCm39) T124S probably benign Het
Odf4 T A 11: 68,817,767 (GRCm39) E9D probably benign Het
Ptchd4 T A 17: 42,627,999 (GRCm39) C153* probably null Het
Scp2 T A 4: 107,964,887 (GRCm39) probably null Het
Slc16a10 A G 10: 39,952,819 (GRCm39) V225A probably benign Het
Slc66a1 A G 4: 139,033,764 (GRCm39) S52P probably damaging Het
Tdrd6 T C 17: 43,937,482 (GRCm39) K1189E possibly damaging Het
Ttc39a C A 4: 109,280,170 (GRCm39) H151N probably benign Het
Ush2a C T 1: 188,554,854 (GRCm39) T3544M possibly damaging Het
Vnn1 A G 10: 23,776,744 (GRCm39) H365R probably benign Het
Other mutations in Tbk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2012-12-17