Incidental Mutation 'IGL01734:Tbk1'
ID 105605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbk1
Ensembl Gene ENSMUSG00000020115
Gene Name TANK-binding kinase 1
Synonyms 1200008B05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01734
Quality Score
Status
Chromosome 10
Chromosomal Location 121382360-121422692 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 121407888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 82 (R82*)
Ref Sequence ENSEMBL: ENSMUSP00000151935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020316] [ENSMUST00000219400] [ENSMUST00000219493]
AlphaFold Q9WUN2
Predicted Effect probably null
Transcript: ENSMUST00000020316
AA Change: R134*
SMART Domains Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: R134*

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: ENSMUST00000219244
Predicted Effect probably benign
Transcript: ENSMUST00000219400
Predicted Effect probably null
Transcript: ENSMUST00000219493
AA Change: R82*
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,697,371 (GRCm39) W210R possibly damaging Het
Aknad1 T C 3: 108,659,217 (GRCm39) M77T probably benign Het
Aox1 A T 1: 58,393,469 (GRCm39) I1210F possibly damaging Het
Brd8 A T 18: 34,747,858 (GRCm39) probably benign Het
Cdh23 T C 10: 60,139,292 (GRCm39) D3307G probably benign Het
Chsy1 T C 7: 65,821,058 (GRCm39) I431T probably damaging Het
Cobl A G 11: 12,204,980 (GRCm39) probably benign Het
Col28a1 T C 6: 8,158,134 (GRCm39) D308G probably damaging Het
Csmd3 A G 15: 48,048,700 (GRCm39) Y568H probably damaging Het
Dmrt3 T C 19: 25,599,947 (GRCm39) I264T probably damaging Het
Dusp22 G T 13: 30,880,235 (GRCm39) C52F probably damaging Het
Fbxw22 A C 9: 109,212,993 (GRCm39) M318R probably damaging Het
Ffar4 C T 19: 38,102,295 (GRCm39) T310M probably damaging Het
Fn1 A G 1: 71,658,644 (GRCm39) V1138A probably damaging Het
Glt6d1 T A 2: 25,684,505 (GRCm39) Y167F probably benign Het
Hydin T A 8: 111,217,421 (GRCm39) Y1436* probably null Het
Il12a G A 3: 68,598,888 (GRCm39) C2Y possibly damaging Het
Inpp5a T C 7: 139,034,006 (GRCm39) Y38H possibly damaging Het
Jmy A C 13: 93,596,159 (GRCm39) L490R probably damaging Het
Kif26a T A 12: 112,143,262 (GRCm39) L1172H probably benign Het
Kmo A T 1: 175,482,668 (GRCm39) M331L probably benign Het
Lonp1 G A 17: 56,923,026 (GRCm39) T627M probably damaging Het
Lrrc41 T C 4: 115,950,331 (GRCm39) probably null Het
Mast4 A T 13: 102,874,123 (GRCm39) S1556R probably damaging Het
Mmel1 A G 4: 154,976,408 (GRCm39) N490S probably benign Het
Mpped2 A G 2: 106,614,158 (GRCm39) D164G probably damaging Het
Nap1l1 A G 10: 111,328,760 (GRCm39) T230A probably benign Het
Nrap C A 19: 56,338,741 (GRCm39) A913S probably damaging Het
Nudt16 G T 9: 105,008,707 (GRCm39) Q65K probably benign Het
Or1e23 C A 11: 73,407,462 (GRCm39) A188S probably benign Het
Or5ac17 T G 16: 59,036,792 (GRCm39) L61F probably benign Het
Or5ac19 T A 16: 59,089,213 (GRCm39) K272N probably benign Het
Or5al5 T A 2: 85,962,012 (GRCm39) probably benign Het
Or6c76b T A 10: 129,692,671 (GRCm39) C95S probably benign Het
Parp14 A G 16: 35,678,970 (GRCm39) F333L probably benign Het
Pi4ka G T 16: 17,115,124 (GRCm39) Q1422K probably benign Het
Polr3c T C 3: 96,620,836 (GRCm39) E494G probably damaging Het
Prss42 C A 9: 110,627,411 (GRCm39) P49Q probably benign Het
Ptpra C T 2: 130,385,997 (GRCm39) T568I probably damaging Het
Ring1 T C 17: 34,242,294 (GRCm39) D71G probably damaging Het
Siae T A 9: 37,542,782 (GRCm39) S193T probably damaging Het
Slf2 T C 19: 44,961,706 (GRCm39) probably null Het
Spinkl T A 18: 44,307,639 (GRCm39) K7N possibly damaging Het
Tcf12 T C 9: 71,829,930 (GRCm39) probably null Het
Tcl1b5 G A 12: 105,145,214 (GRCm39) M59I probably benign Het
Thumpd3 C A 6: 113,043,806 (GRCm39) T407K probably damaging Het
Timm29 T C 9: 21,505,031 (GRCm39) V233A probably damaging Het
Tns3 A G 11: 8,469,192 (GRCm39) probably benign Het
Ubash3b T C 9: 40,937,543 (GRCm39) probably benign Het
Ugdh G T 5: 65,580,031 (GRCm39) T253K probably benign Het
Zfp143 T A 7: 109,671,416 (GRCm39) probably benign Het
Zfp738 A G 13: 67,831,563 (GRCm39) 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
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
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 2014-01-21