Incidental Mutation 'R1860:Tbk1'
ID 203820
Institutional Source Beutler Lab
Gene Symbol Tbk1
Ensembl Gene ENSMUSG00000020115
Gene Name TANK-binding kinase 1
Synonyms 1200008B05Rik
MMRRC Submission 039883-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1860 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 121382360-121422692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121383076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 719 (M719K)
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: M719K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: M719K

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 probably benign
Transcript: ENSMUST00000219400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220386
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,098 (GRCm39) C587R probably damaging Het
Abca16 T A 7: 120,133,986 (GRCm39) S1320T probably benign Het
Abra C A 15: 41,732,430 (GRCm39) R212L probably damaging Het
Acadsb T A 7: 131,045,958 (GRCm39) probably null Het
Adam26a A G 8: 44,022,578 (GRCm39) V304A possibly damaging Het
Adgre1 T C 17: 57,748,363 (GRCm39) V521A probably benign Het
Adh5 G A 3: 138,159,539 (GRCm39) V288I probably benign Het
Astn1 A C 1: 158,429,515 (GRCm39) N753T probably damaging Het
Atad2 A T 15: 57,960,114 (GRCm39) probably null Het
Best3 A G 10: 116,829,178 (GRCm39) T153A probably damaging Het
Ccdc122 G A 14: 77,348,847 (GRCm39) V226I probably damaging Het
Ccdc175 T C 12: 72,152,700 (GRCm39) Q735R probably benign Het
Cd19 T A 7: 126,008,813 (GRCm39) I499F probably damaging Het
Cftr T A 6: 18,268,288 (GRCm39) L749H probably benign Het
Clec2h G T 6: 128,652,790 (GRCm39) G186W probably damaging Het
Cpsf3 T A 12: 21,346,733 (GRCm39) I202N probably damaging Het
Crebbp G T 16: 3,905,600 (GRCm39) T1669N possibly damaging Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Cul4a G A 8: 13,173,565 (GRCm39) R204Q probably damaging Het
Derl2 A G 11: 70,909,169 (GRCm39) F43S probably damaging Het
Dnah14 T A 1: 181,591,525 (GRCm39) N3348K probably damaging Het
Dnhd1 T C 7: 105,353,412 (GRCm39) V2855A probably benign Het
Dpysl4 G T 7: 138,670,215 (GRCm39) C27F probably benign Het
Fam228b G A 12: 4,798,314 (GRCm39) A163V probably damaging Het
Fscn1 T C 5: 142,955,818 (GRCm39) probably null Het
Fzd5 C A 1: 64,774,153 (GRCm39) R536L probably damaging Het
Gm8180 T A 14: 44,021,196 (GRCm39) H4L probably benign Het
Gpr176 T A 2: 118,203,659 (GRCm39) N4Y probably damaging Het
Grin3a T C 4: 49,665,309 (GRCm39) I1109V possibly damaging Het
Hcar1 T A 5: 124,017,092 (GRCm39) I200F probably damaging Het
Heatr4 G A 12: 84,026,502 (GRCm39) Q252* probably null Het
Hps1 G A 19: 42,750,888 (GRCm39) H371Y probably damaging Het
Ikzf2 T C 1: 69,609,661 (GRCm39) T195A probably damaging Het
Kdm1b G A 13: 47,202,666 (GRCm39) A34T probably benign Het
Lef1 A G 3: 130,905,290 (GRCm39) N57S probably damaging Het
Ltn1 A T 16: 87,213,231 (GRCm39) D443E probably benign Het
Macroh2a1 A G 13: 56,231,017 (GRCm39) L287P probably damaging Het
Mamdc2 T C 19: 23,336,517 (GRCm39) T331A probably damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mb A G 15: 76,901,784 (GRCm39) Y104H probably damaging Het
Mrc1 C A 2: 14,333,390 (GRCm39) P1357Q probably benign Het
Nfib C T 4: 82,241,917 (GRCm39) V425M probably damaging Het
Or12j2 G A 7: 139,916,132 (GRCm39) R119H possibly damaging Het
Or4a27 T G 2: 88,559,674 (GRCm39) I90L probably damaging Het
Or4b1b C A 2: 90,112,502 (GRCm39) C139F probably damaging Het
Or4c127 G A 2: 89,833,490 (GRCm39) V247I probably benign Het
Or4n4 A T 14: 50,518,848 (GRCm39) Y287* probably null Het
Or52u1 T C 7: 104,237,112 (GRCm39) S34P probably damaging Het
Or5b113 T A 19: 13,342,705 (GRCm39) S238T possibly damaging Het
Or5p53 A G 7: 107,533,597 (GRCm39) Y290C probably damaging Het
Or6c208 T C 10: 129,223,955 (GRCm39) F151S probably damaging Het
Or8b51 A T 9: 38,569,661 (GRCm39) V9E probably damaging Het
Phaf1 A G 8: 105,966,703 (GRCm39) E150G probably null Het
Piezo1 T C 8: 123,222,489 (GRCm39) N919S possibly damaging Het
Prkaca T C 8: 84,707,852 (GRCm39) S46P probably benign Het
Prkcb T G 7: 122,167,424 (GRCm39) V378G probably damaging Het
Ptprf A T 4: 118,081,129 (GRCm39) L576Q probably damaging Het
Rapgef4 T C 2: 72,065,064 (GRCm39) V687A probably benign Het
Rsad2 C T 12: 26,500,616 (GRCm39) V224I probably damaging Het
Ryr1 A T 7: 28,708,977 (GRCm39) D4796E unknown Het
Scn1a C T 2: 66,148,326 (GRCm39) S1073N probably damaging Het
Slc26a3 A G 12: 31,515,845 (GRCm39) M582V probably benign Het
Tbc1d32 A T 10: 55,999,633 (GRCm39) Y846* probably null Het
Timeless A G 10: 128,081,983 (GRCm39) K536R probably benign Het
Tle6 G T 10: 81,430,163 (GRCm39) Q330K probably damaging Het
Tmem208 A G 8: 106,061,438 (GRCm39) K155E possibly damaging Het
Toe1 T C 4: 116,662,426 (GRCm39) Y273C probably damaging Het
Tppp2 A C 14: 52,158,062 (GRCm39) N169T probably benign Het
Ttll6 T A 11: 96,029,700 (GRCm39) Y204* probably null Het
Ubxn11 G A 4: 133,852,149 (GRCm39) S32N probably damaging Het
Usp8 G A 2: 126,597,960 (GRCm39) C961Y probably damaging Het
Vdac3 A T 8: 23,070,515 (GRCm39) I132K possibly damaging Het
Vmn2r124 G T 17: 18,269,759 (GRCm39) W5L probably benign Het
Vmn2r71 A T 7: 85,264,782 (GRCm39) D38V probably damaging Het
Vmn2r87 C T 10: 130,315,755 (GRCm39) V104I probably benign Het
Vmn2r97 C T 17: 19,167,648 (GRCm39) T634I probably benign Het
Vps50 T C 6: 3,520,279 (GRCm39) probably null Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Ythdc2 T A 18: 45,006,023 (GRCm39) I1172K possibly damaging Het
Zfp14 C T 7: 29,738,116 (GRCm39) V290M probably damaging Het
Zfp317 G A 9: 19,553,280 (GRCm39) A18T possibly damaging Het
Zfp354b A T 11: 50,814,369 (GRCm39) N185K probably benign Het
Zscan21 T A 5: 138,124,892 (GRCm39) D269E 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCTGTCTTTGTTACAGCAGCC -3'
(R):5'- TGCTGGGATGTCAAGAGCTG -3'

Sequencing Primer
(F):5'- GTCTTTGTTACAGCAGCCAAAATTC -3'
(R):5'- TCAAGAGCTGGGCTATGACTC -3'
Posted On 2014-06-23