Incidental Mutation 'R4190:Ttbk1'
ID 319938
Institutional Source Beutler Lab
Gene Symbol Ttbk1
Ensembl Gene ENSMUSG00000015599
Gene Name tau tubulin kinase 1
Synonyms C330008L01Rik
MMRRC Submission 041021-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R4190 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46753374-46798601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46790173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 91 (C91S)
Ref Sequence ENSEMBL: ENSMUSP00000044580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047034] [ENSMUST00000223818] [ENSMUST00000225808]
AlphaFold Q6PCN3
Predicted Effect probably damaging
Transcript: ENSMUST00000047034
AA Change: C91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: C91S

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 damaging
Transcript: ENSMUST00000225808
AA Change: C91S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.9286 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (50/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Adgre1 A G 17: 57,709,811 (GRCm39) Y156C unknown Het
Ankrd13b G A 11: 77,367,201 (GRCm39) A21V probably damaging Het
Atf7ip T C 6: 136,564,499 (GRCm39) V914A probably damaging Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Calcr T A 6: 3,717,106 (GRCm39) D118V possibly damaging Het
Cdc42bpg T C 19: 6,371,711 (GRCm39) V1330A probably damaging Het
Cfap54 T C 10: 92,720,885 (GRCm39) E2567G unknown Het
Ctse T A 1: 131,590,479 (GRCm39) V67D probably benign Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dipk1b T C 2: 26,526,193 (GRCm39) Y376H probably damaging Het
Fahd2a C T 2: 127,280,486 (GRCm39) V156I probably benign Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Heatr3 T C 8: 88,864,888 (GRCm39) probably benign Het
Herc2 T C 7: 55,772,196 (GRCm39) V1125A probably benign Het
Itga11 T A 9: 62,639,391 (GRCm39) C129S probably damaging Het
Lama2 A G 10: 27,142,660 (GRCm39) L606P probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Mtmr10 G T 7: 63,963,934 (GRCm39) W223L probably benign Het
Nlgn1 T A 3: 25,488,062 (GRCm39) T758S probably benign Het
Nr4a1 T C 15: 101,171,993 (GRCm39) S556P probably damaging Het
Or4c126 C A 2: 89,823,918 (GRCm39) Y60* probably null Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or6c201 T C 10: 128,968,836 (GRCm39) N267S possibly damaging Het
Or6c33 A T 10: 129,853,847 (GRCm39) I206F probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Plscr5 T C 9: 92,080,651 (GRCm39) S46P probably benign Het
Ppp2r3d T C 9: 124,424,123 (GRCm38) probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Sorcs3 T C 19: 48,737,812 (GRCm39) V743A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stab2 G T 10: 86,714,808 (GRCm39) N119K probably damaging Het
Telo2 T C 17: 25,320,987 (GRCm39) T743A probably benign Het
Trav6-1 A G 14: 52,875,976 (GRCm39) N2S probably benign Het
Trmt44 C A 5: 35,732,314 (GRCm39) V26L possibly damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn2r84 A T 10: 130,227,163 (GRCm39) L225* probably null Het
Vmn2r87 A G 10: 130,308,556 (GRCm39) Y561H probably damaging Het
Yars1 T A 4: 129,093,820 (GRCm39) C60* probably null Het
Zfp202 T C 9: 40,122,633 (GRCm39) V465A probably benign 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
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
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'- ATTCACCACCCAGCCTTG -3'
(R):5'- GCTGGGTGTAGTATACATACACA -3'

Sequencing Primer
(F):5'- CACCCAGCCTTGCCCCC -3'
(R):5'- TACAGAGATACAGTCACAGAGAGCTC -3'
Posted On 2015-06-10