Incidental Mutation 'R1228:Ttbk1'
ID 175043
Institutional Source Beutler Lab
Gene Symbol Ttbk1
Ensembl Gene ENSMUSG00000015599
Gene Name tau tubulin kinase 1
Synonyms C330008L01Rik
MMRRC Submission 039297-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R1228 (G1)
Quality Score 215
Status Not validated
Chromosome 17
Chromosomal Location 46753374-46798601 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 46787638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000047034] [ENSMUST00000223818] [ENSMUST00000225808]
AlphaFold Q6PCN3
Predicted Effect probably null
Transcript: ENSMUST00000047034
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599

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 probably null
Transcript: ENSMUST00000047034
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599

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: ENSMUST00000223818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224870
Predicted Effect probably null
Transcript: ENSMUST00000225808
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.7%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bag6 T A 17: 35,364,309 (GRCm39) S863R probably damaging Het
Ccdc181 C T 1: 164,113,960 (GRCm39) R455* probably null Het
Clvs2 T C 10: 33,498,600 (GRCm39) N110S probably benign Het
Enpp1 T A 10: 24,521,310 (GRCm39) I806F probably benign Het
Entrep1 A G 19: 23,956,829 (GRCm39) S355P probably benign Het
Fli1 T C 9: 32,335,139 (GRCm39) Y431C probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Klhl25 C T 7: 75,515,868 (GRCm39) A258V probably benign Het
Krt13 T C 11: 100,012,303 (GRCm39) S7G probably benign Het
Pakap T A 4: 57,856,909 (GRCm39) I787N probably damaging Het
Pappa T C 4: 65,258,926 (GRCm39) F1558S probably damaging Het
Phc3 A T 3: 30,976,404 (GRCm39) N721K possibly damaging Het
Plxna4 A T 6: 32,201,087 (GRCm39) probably null Het
Rabac1 T C 7: 24,671,523 (GRCm39) probably null Het
Rims1 T C 1: 22,511,837 (GRCm39) D572G probably null Het
Rpia T C 6: 70,768,880 (GRCm39) N85S probably benign Het
Sh3gl3 A G 7: 81,824,723 (GRCm39) M1V probably null Het
Skint6 T C 4: 112,711,649 (GRCm39) N956S probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sp110 G A 1: 85,519,481 (GRCm39) P116S probably benign Het
Spata7 T C 12: 98,600,528 (GRCm39) L47P probably damaging Het
Tcea2 G T 2: 181,326,238 (GRCm39) V81F probably benign Het
Vmn2r77 G A 7: 86,450,242 (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
IGL02874:Ttbk1 APN 17 46,781,151 (GRCm39) missense probably benign 0.10
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
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
Predicted Primers PCR Primer
(F):5'- AGCACTGATACCGGGAAGATCAGC -3'
(R):5'- AGAAGTCTCCCAGAAAAGGGTCCAC -3'

Sequencing Primer
(F):5'- CTTGGGGGGCAATCTTGAAA -3'
(R):5'- CCATGATGACCTGTGGTCC -3'
Posted On 2014-04-24