Incidental Mutation 'R1717:Tbk1'
ID 191140
Institutional Source Beutler Lab
Gene Symbol Tbk1
Ensembl Gene ENSMUSG00000020115
Gene Name TANK-binding kinase 1
Synonyms 1200008B05Rik
MMRRC Submission 039750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1717 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 121382360-121422692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121397550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 374 (T374I)
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: T374I

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: T374I

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 0.1195 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (81/83)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap11 C A 14: 78,750,788 (GRCm39) S533I probably benign Het
Aldh1a2 A T 9: 71,200,953 (GRCm39) N517I probably damaging Het
Aldh4a1 A T 4: 139,365,840 (GRCm39) H277L possibly damaging Het
Aldh4a1 G A 4: 139,361,305 (GRCm39) probably null Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,712 (GRCm39) probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or5as1 A T 2: 86,980,150 (GRCm39) L285* probably null Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCTCACTCCCTAAGCAGGCGT -3'
(R):5'- GGCTAACTCCACCCTGCACTCTC -3'

Sequencing Primer
(F):5'- GTCTCAAATGGTTGTAAAACTCTGG -3'
(R):5'- ACTCTCTCATCCCTTCTGACG -3'
Posted On 2014-05-14