Incidental Mutation 'R4043:Ttbk1'
ID 313960
Institutional Source Beutler Lab
Gene Symbol Ttbk1
Ensembl Gene ENSMUSG00000015599
Gene Name tau tubulin kinase 1
Synonyms C330008L01Rik
MMRRC Submission 041615-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R4043 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46753374-46798601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46757688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 982 (D982V)
Ref Sequence ENSEMBL: ENSMUSP00000044580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047034]
AlphaFold Q6PCN3
Predicted Effect probably benign
Transcript: ENSMUST00000047034
AA Change: D982V

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: D982V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.9%
Validation Efficiency 97% (64/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,409,360 (GRCm39) N44D probably benign Het
AU018091 A G 7: 3,208,962 (GRCm39) F375L probably damaging Het
Bsph1 G T 7: 13,192,201 (GRCm39) probably null Het
Casp1 A G 9: 5,302,444 (GRCm39) D122G probably benign Het
Ccdc146 C T 5: 21,521,941 (GRCm39) C361Y probably benign Het
Cdc37l1 T C 19: 28,968,028 (GRCm39) S31P possibly damaging Het
Cdca2 A T 14: 67,941,455 (GRCm39) M249K probably benign Het
Cfap73 C T 5: 120,768,030 (GRCm39) probably null Het
Cgnl1 A G 9: 71,612,575 (GRCm39) L749S probably damaging Het
Cmtr2 C A 8: 110,948,462 (GRCm39) C257* probably null Het
Col6a4 A T 9: 105,949,610 (GRCm39) L675* probably null Het
Cpne8 A T 15: 90,456,204 (GRCm39) D186E probably damaging Het
Csmd3 A G 15: 47,619,362 (GRCm39) probably null Het
Daglb T A 5: 143,472,906 (GRCm39) Y354N possibly damaging Het
Dlgap1 T C 17: 71,068,075 (GRCm39) S549P probably damaging Het
Dnah11 T C 12: 117,843,678 (GRCm39) D4389G probably damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
Gimap1 T A 6: 48,720,176 (GRCm39) W263R probably damaging Het
Gne A C 4: 44,040,383 (GRCm39) C594G possibly damaging Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Hdac6 T C X: 7,797,731 (GRCm39) T993A probably benign Het
Helz2 T C 2: 180,871,503 (GRCm39) D2703G probably benign Het
Jmjd1c G A 10: 67,055,245 (GRCm39) V222I possibly damaging Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Lrrc37a T G 11: 103,389,479 (GRCm39) H1982P possibly damaging Het
Med13l T A 5: 118,731,528 (GRCm39) L68Q probably damaging Het
Megf10 C A 18: 57,392,870 (GRCm39) D422E probably damaging Het
Mpz C T 1: 170,987,340 (GRCm39) probably benign Het
Muc5ac A T 7: 141,361,215 (GRCm39) T1508S possibly damaging Het
Myo3a C T 2: 22,338,350 (GRCm39) probably benign Het
Ndnf A T 6: 65,680,920 (GRCm39) N400Y possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or7g35 G T 9: 19,496,291 (GRCm39) V153F probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pappa A G 4: 65,232,824 (GRCm39) N1321S probably benign Het
Patl1 T A 19: 11,920,314 (GRCm39) L756Q probably damaging Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Plekhg2 G A 7: 28,064,144 (GRCm39) probably benign Het
Ppp2r2d G A 7: 138,484,145 (GRCm39) W265* probably null Het
Ppp4r3c1 A G X: 88,975,909 (GRCm39) F96S probably damaging Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radil T A 5: 142,479,988 (GRCm39) I471F probably benign Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Rpl10l A T 12: 66,330,977 (GRCm39) M52K probably damaging Het
Scn1a A T 2: 66,156,380 (GRCm39) S510T possibly damaging Het
Sdad1 T G 5: 92,450,553 (GRCm39) N194T probably damaging Het
Sel1l3 A T 5: 53,345,396 (GRCm39) Y259* probably null Het
Slc22a26 T C 19: 7,765,694 (GRCm39) probably null Het
Snap91 C T 9: 86,659,102 (GRCm39) G477D probably damaging Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Srr T C 11: 74,799,947 (GRCm39) T202A probably benign Het
Srrm1 C T 4: 135,068,242 (GRCm39) probably benign Het
Trp53bp2 T A 1: 182,276,626 (GRCm39) L869Q possibly damaging Het
Ttn T C 2: 76,624,501 (GRCm39) T15324A probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vps8 A C 16: 21,345,146 (GRCm39) D823A probably damaging Het
Zfp616 T A 11: 73,976,108 (GRCm39) N792K possibly damaging Het
Zfpm2 A T 15: 40,734,023 (GRCm39) D2V possibly damaging Het
Zfyve16 A C 13: 92,650,271 (GRCm39) probably null Het
Zmym2 T A 14: 57,195,765 (GRCm39) 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
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'- TGTATCCTCTTCAGACAACAAGAC -3'
(R):5'- CATTGCAGAGAAGTCCCACC -3'

Sequencing Primer
(F):5'- CGAGATCCTGGCATAGCATG -3'
(R):5'- CTCAACGTCATGTCTTCCGGG -3'
Posted On 2015-04-30