Incidental Mutation 'IGL01071:Tbkbp1'
ID52224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbkbp1
Ensembl Gene ENSMUSG00000038517
Gene NameTBK1 binding protein 1
Synonyms3110043L15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01071
Quality Score
Status
Chromosome11
Chromosomal Location97136171-97151495 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97149562 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 9 (I9V)
Ref Sequence ENSEMBL: ENSMUSP00000112396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066078] [ENSMUST00000107613] [ENSMUST00000107614] [ENSMUST00000107615] [ENSMUST00000118375] [ENSMUST00000146374]
Predicted Effect probably damaging
Transcript: ENSMUST00000066078
AA Change: I9V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: I9V

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 156 N/A INTRINSIC
low complexity region 168 173 N/A INTRINSIC
low complexity region 178 194 N/A INTRINSIC
coiled coil region 218 278 N/A INTRINSIC
Pfam:TBD 287 342 2.8e-24 PFAM
low complexity region 343 432 N/A INTRINSIC
low complexity region 460 477 N/A INTRINSIC
low complexity region 552 562 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107613
AA Change: I9V

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103238
Gene: ENSMUSG00000038517
AA Change: I9V

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 152 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107614
AA Change: I9V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: I9V

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 156 N/A INTRINSIC
low complexity region 168 173 N/A INTRINSIC
low complexity region 178 194 N/A INTRINSIC
coiled coil region 218 278 N/A INTRINSIC
Pfam:TBD 289 343 4.1e-21 PFAM
low complexity region 460 477 N/A INTRINSIC
low complexity region 552 562 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107615
AA Change: I9V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: I9V

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 156 N/A INTRINSIC
low complexity region 168 173 N/A INTRINSIC
low complexity region 178 194 N/A INTRINSIC
coiled coil region 217 277 N/A INTRINSIC
Pfam:TBD 286 341 4e-25 PFAM
low complexity region 342 431 N/A INTRINSIC
low complexity region 459 476 N/A INTRINSIC
low complexity region 551 561 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118375
AA Change: I9V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: I9V

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 156 N/A INTRINSIC
low complexity region 168 173 N/A INTRINSIC
low complexity region 178 194 N/A INTRINSIC
coiled coil region 217 277 N/A INTRINSIC
Pfam:TBD 286 341 4e-25 PFAM
low complexity region 342 431 N/A INTRINSIC
low complexity region 459 476 N/A INTRINSIC
low complexity region 551 561 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000146374
AA Change: I9V

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114460
Gene: ENSMUSG00000038517
AA Change: I9V

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183796
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal GM-CSF-derived bone marrow-derived dendritic cell differentiation and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Cadps C T 14: 12,509,091 probably null Het
Camk2a T C 18: 60,980,156 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Tbkbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Tbkbp1 APN 11 97137648 unclassified probably benign
R0017:Tbkbp1 UTSW 11 97146289 unclassified probably benign
R0445:Tbkbp1 UTSW 11 97149469 missense probably damaging 1.00
R1468:Tbkbp1 UTSW 11 97148988 missense probably damaging 1.00
R1468:Tbkbp1 UTSW 11 97148988 missense probably damaging 1.00
R4198:Tbkbp1 UTSW 11 97149068 critical splice acceptor site probably null
R4737:Tbkbp1 UTSW 11 97148648 missense probably damaging 1.00
R4816:Tbkbp1 UTSW 11 97138741 missense probably benign 0.23
R4910:Tbkbp1 UTSW 11 97139130 missense probably benign 0.23
R4947:Tbkbp1 UTSW 11 97138944 utr 3 prime probably benign
R5571:Tbkbp1 UTSW 11 97148729 missense probably damaging 1.00
R6083:Tbkbp1 UTSW 11 97147380 missense probably damaging 1.00
R6207:Tbkbp1 UTSW 11 97146339 missense probably damaging 1.00
R6595:Tbkbp1 UTSW 11 97138752 utr 3 prime probably benign
R7678:Tbkbp1 UTSW 11 97149483 missense probably damaging 1.00
R7684:Tbkbp1 UTSW 11 97147733 unclassified probably benign
X0020:Tbkbp1 UTSW 11 97148974 missense probably damaging 0.99
Z1176:Tbkbp1 UTSW 11 97149528 missense possibly damaging 0.84
Posted On2013-06-21