Incidental Mutation 'R7853:Ttbk1'
ID 607107
Institutional Source Beutler Lab
Gene Symbol Ttbk1
Ensembl Gene ENSMUSG00000015599
Gene Name tau tubulin kinase 1
Synonyms C330008L01Rik
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.529) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46753374-46798601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46758269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 788 (E788D)
Ref Sequence ENSEMBL: ENSMUSP00000044580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047034]
AlphaFold Q6PCN3
Predicted Effect probably benign
Transcript: ENSMUST00000047034
AA Change: E788D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: E788D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hc T A 2: 34,900,045 (GRCm39) Y1096F probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Lnpep C T 17: 17,783,109 (GRCm39) S564N probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Mypn T A 10: 62,981,652 (GRCm39) I643F probably benign Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Osbpl10 A G 9: 115,036,726 (GRCm39) T241A probably damaging Het
Peg3 C T 7: 6,711,839 (GRCm39) E1128K possibly damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Ube4a T A 9: 44,864,308 (GRCm39) Q76L probably benign Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (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
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
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'- GCAGTGACTGGTGACTTCTTCATG -3'
(R):5'- GGGCTTCTCACACATGCTACTC -3'

Sequencing Primer
(F):5'- TTCTTCATGTCACCAGGGGAGAC -3'
(R):5'- CCTCAGGCCAATGGGAAAG -3'
Posted On 2019-12-20