Incidental Mutation 'IGL02874:Ttbk1'
ID 362629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttbk1
Ensembl Gene ENSMUSG00000015599
Gene Name tau tubulin kinase 1
Synonyms C330008L01Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # IGL02874
Quality Score
Status
Chromosome 17
Chromosomal Location 46753374-46798601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46781151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 474 (E474G)
Ref Sequence ENSEMBL: ENSMUSP00000044580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000225808]
AlphaFold Q6PCN3
Predicted Effect probably benign
Transcript: ENSMUST00000047034
AA Change: E474G

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: E474G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 34 293 3.4e-21 PFAM
Pfam:Pkinase 34 305 1.7e-33 PFAM
low complexity region 320 334 N/A INTRINSIC
low complexity region 371 395 N/A INTRINSIC
low complexity region 570 593 N/A INTRINSIC
low complexity region 611 624 N/A INTRINSIC
low complexity region 633 653 N/A INTRINSIC
low complexity region 697 709 N/A INTRINSIC
coiled coil region 729 776 N/A INTRINSIC
low complexity region 779 797 N/A INTRINSIC
low complexity region 893 913 N/A INTRINSIC
low complexity region 945 962 N/A INTRINSIC
low complexity region 1090 1115 N/A INTRINSIC
low complexity region 1236 1251 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Predicted Effect probably benign
Transcript: ENSMUST00000225808
AA Change: E474G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 60,039,701 (GRCm39) Y876H probably damaging Het
Cfap65 G A 1: 74,950,267 (GRCm39) Q1161* probably null Het
Chrd C T 16: 20,553,946 (GRCm39) T282I probably damaging Het
Clasp1 T C 1: 118,479,773 (GRCm39) S749P possibly damaging Het
Clec4a3 T A 6: 122,944,519 (GRCm39) N188K probably benign Het
Dmpk A G 7: 18,820,926 (GRCm39) M181V possibly damaging Het
Dnah7a A T 1: 53,644,973 (GRCm39) M1021K possibly damaging Het
Exoc5 A T 14: 49,288,903 (GRCm39) N48K probably benign Het
Golga1 A G 2: 38,929,104 (GRCm39) L338P probably damaging Het
Hdc T A 2: 126,443,596 (GRCm39) T334S probably benign Het
Idh2 A G 7: 79,747,621 (GRCm39) S300P probably damaging Het
Igkv4-78 T C 6: 69,037,190 (GRCm39) I7V probably benign Het
Impdh1 A T 6: 29,203,155 (GRCm39) M389K probably damaging Het
Kcnd2 T A 6: 21,216,922 (GRCm39) C209S probably damaging Het
Or11g25 G T 14: 50,723,686 (GRCm39) C257F possibly damaging Het
Or4q3 A T 14: 50,583,583 (GRCm39) H105Q probably damaging Het
Or56b2 C A 7: 104,337,230 (GRCm39) Q3K probably benign Het
Ovol1 T C 19: 5,601,209 (GRCm39) K194R probably damaging Het
Pcdh17 A T 14: 84,685,680 (GRCm39) I716F possibly damaging Het
Pck1 T C 2: 172,997,042 (GRCm39) I228T probably damaging Het
Pla2g2a T C 4: 138,562,159 (GRCm39) F132L probably benign Het
Prex1 A G 2: 166,426,967 (GRCm39) V1086A probably damaging Het
Rasd2 T C 8: 75,945,327 (GRCm39) I52T probably damaging Het
Robo1 T C 16: 72,809,806 (GRCm39) Y1185H probably damaging Het
Sema6c T G 3: 95,077,688 (GRCm39) V441G probably damaging Het
Slc9a4 A T 1: 40,623,198 (GRCm39) M146L probably benign Het
Thsd4 C T 9: 60,160,013 (GRCm39) V358I probably damaging Het
Ttbk2 T A 2: 120,576,193 (GRCm39) D928V probably damaging Het
Ttn C T 2: 76,641,522 (GRCm39) G11779S probably damaging Het
Wfdc6b T C 2: 164,459,368 (GRCm39) probably null Het
Other mutations in Ttbk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Ttbk1 APN 17 46,757,989 (GRCm39) missense probably damaging 1.00
IGL02469:Ttbk1 APN 17 46,781,556 (GRCm39) missense possibly damaging 0.77
IGL02826:Ttbk1 APN 17 46,781,586 (GRCm39) missense probably benign
IGL02948:Ttbk1 APN 17 46,757,256 (GRCm39) missense probably benign 0.44
IGL03037:Ttbk1 APN 17 46,757,256 (GRCm39) missense probably benign 0.44
R0165:Ttbk1 UTSW 17 46,789,864 (GRCm39) missense possibly damaging 0.70
R1186:Ttbk1 UTSW 17 46,778,057 (GRCm39) missense probably damaging 1.00
R1228:Ttbk1 UTSW 17 46,787,638 (GRCm39) critical splice donor site probably null
R1423:Ttbk1 UTSW 17 46,757,080 (GRCm39) splice site probably benign
R1477:Ttbk1 UTSW 17 46,787,725 (GRCm39) missense probably benign 0.05
R1960:Ttbk1 UTSW 17 46,791,150 (GRCm39) missense probably damaging 0.99
R1961:Ttbk1 UTSW 17 46,791,150 (GRCm39) missense probably damaging 0.99
R4043:Ttbk1 UTSW 17 46,757,688 (GRCm39) missense probably benign 0.21
R4190:Ttbk1 UTSW 17 46,790,173 (GRCm39) missense probably damaging 1.00
R4192:Ttbk1 UTSW 17 46,790,173 (GRCm39) missense probably damaging 1.00
R4193:Ttbk1 UTSW 17 46,790,173 (GRCm39) missense probably damaging 1.00
R4660:Ttbk1 UTSW 17 46,788,714 (GRCm39) nonsense probably null
R5383:Ttbk1 UTSW 17 46,778,342 (GRCm39) missense probably damaging 1.00
R5385:Ttbk1 UTSW 17 46,758,558 (GRCm39) missense probably benign 0.00
R5715:Ttbk1 UTSW 17 46,790,133 (GRCm39) missense probably damaging 0.99
R6218:Ttbk1 UTSW 17 46,781,733 (GRCm39) missense possibly damaging 0.47
R6263:Ttbk1 UTSW 17 46,778,188 (GRCm39) missense probably damaging 1.00
R6471:Ttbk1 UTSW 17 46,778,203 (GRCm39) missense probably benign
R6537:Ttbk1 UTSW 17 46,781,236 (GRCm39) missense probably damaging 0.98
R6552:Ttbk1 UTSW 17 46,789,888 (GRCm39) missense probably benign 0.14
R7564:Ttbk1 UTSW 17 46,787,857 (GRCm39) missense possibly damaging 0.66
R7853:Ttbk1 UTSW 17 46,758,269 (GRCm39) missense probably benign 0.00
R7871:Ttbk1 UTSW 17 46,757,164 (GRCm39) missense probably benign
R7873:Ttbk1 UTSW 17 46,757,494 (GRCm39) missense probably damaging 1.00
R7908:Ttbk1 UTSW 17 46,789,864 (GRCm39) missense probably damaging 1.00
R8210:Ttbk1 UTSW 17 46,791,087 (GRCm39) missense possibly damaging 0.95
R8236:Ttbk1 UTSW 17 46,781,655 (GRCm39) missense probably damaging 1.00
R8754:Ttbk1 UTSW 17 46,756,127 (GRCm39) nonsense probably null
R8829:Ttbk1 UTSW 17 46,757,821 (GRCm39) missense probably damaging 1.00
R8870:Ttbk1 UTSW 17 46,781,661 (GRCm39) missense probably damaging 1.00
R9091:Ttbk1 UTSW 17 46,781,517 (GRCm39) missense possibly damaging 0.48
R9135:Ttbk1 UTSW 17 46,790,132 (GRCm39) nonsense probably null
R9270:Ttbk1 UTSW 17 46,781,517 (GRCm39) missense possibly damaging 0.48
R9605:Ttbk1 UTSW 17 46,784,516 (GRCm39) missense possibly damaging 0.77
R9609:Ttbk1 UTSW 17 46,758,148 (GRCm39) missense probably damaging 0.99
R9617:Ttbk1 UTSW 17 46,757,998 (GRCm39) missense probably damaging 1.00
X0066:Ttbk1 UTSW 17 46,757,782 (GRCm39) missense possibly damaging 0.74
Z1088:Ttbk1 UTSW 17 46,757,251 (GRCm39) missense probably benign 0.35
Z1176:Ttbk1 UTSW 17 46,771,837 (GRCm39) missense possibly damaging 0.63
Posted On 2015-12-18