Incidental Mutation 'IGL00334:Tbkbp1'
ID6028
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 #IGL00334
Quality Score
Status
Chromosome11
Chromosomal Location97136171-97151495 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 97137648 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066078] [ENSMUST00000107613] [ENSMUST00000107614] [ENSMUST00000107615] [ENSMUST00000118375]
Predicted Effect unknown
Transcript: ENSMUST00000066078
AA Change: I579F
SMART Domains Protein: ENSMUSP00000065461
Gene: ENSMUSG00000038517
AA Change: I579F

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 probably benign
Transcript: ENSMUST00000107613
SMART Domains Protein: ENSMUSP00000103238
Gene: ENSMUSG00000038517

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
coiled coil region 47 152 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000107614
AA Change: I579F
SMART Domains Protein: ENSMUSP00000103239
Gene: ENSMUSG00000038517
AA Change: I579F

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 unknown
Transcript: ENSMUST00000107615
AA Change: I578F
SMART Domains Protein: ENSMUSP00000103240
Gene: ENSMUSG00000038517
AA Change: I578F

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 unknown
Transcript: ENSMUST00000118375
AA Change: I578F
SMART Domains Protein: ENSMUSP00000112396
Gene: ENSMUSG00000038517
AA Change: I578F

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Tbkbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Tbkbp1 APN 11 97149562 missense probably damaging 0.99
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 On2012-04-20