Incidental Mutation 'R1961:Ttbk1'
ID 317982
Institutional Source Beutler Lab
Gene Symbol Ttbk1
Ensembl Gene ENSMUSG00000015599
Gene Name tau tubulin kinase 1
Synonyms
MMRRC Submission 039975-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R1961 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46442448-46487675 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46480224 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 45 (F45V)
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: F45V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044580
Gene: ENSMUSG00000015599
AA Change: F45V

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: F45V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.8769 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (93/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A G 6: 96,165,269 (GRCm38) S265P possibly damaging Het
3110001I22Rik T A 16: 13,677,728 (GRCm38) H230Q probably benign Het
Abcc1 T C 16: 14,396,393 (GRCm38) Y191H probably damaging Het
Abcc4 C A 14: 118,611,456 (GRCm38) G495C probably damaging Het
Abcc4 C A 14: 118,611,459 (GRCm38) V494L possibly damaging Het
Acsm4 T C 7: 119,708,740 (GRCm38) Y367H probably benign Het
Adam21 A T 12: 81,559,508 (GRCm38) Y493* probably null Het
Add2 T C 6: 86,096,756 (GRCm38) F209S probably damaging Het
Adgre4 T C 17: 55,791,497 (GRCm38) S136P probably benign Het
Aff4 T G 11: 53,372,999 (GRCm38) L282R probably damaging Het
Akt3 A G 1: 177,096,995 (GRCm38) I178T probably damaging Het
Ap3m1 T C 14: 21,041,015 (GRCm38) Y174C probably damaging Het
Atl1 A G 12: 69,953,500 (GRCm38) E308G probably benign Het
Atp8b5 T G 4: 43,369,688 (GRCm38) V942G probably damaging Het
B3gntl1 A G 11: 121,644,525 (GRCm38) probably null Het
Btrc T G 19: 45,527,343 (GRCm38) I480S probably damaging Het
Cacna1c A T 6: 118,630,322 (GRCm38) I1366N probably benign Het
Ccdc113 T A 8: 95,540,831 (GRCm38) N141K probably benign Het
Ccdc167 T C 17: 29,704,431 (GRCm38) N77D possibly damaging Het
Ccser1 T C 6: 61,313,646 (GRCm38) probably benign Het
Cenpe A G 3: 135,242,493 (GRCm38) E1230G probably damaging Het
Clec12a A C 6: 129,350,481 (GRCm38) T21P possibly damaging Het
Cyp26c1 T A 19: 37,687,377 (GRCm38) F230I probably damaging Het
Exog A G 9: 119,452,266 (GRCm38) E190G possibly damaging Het
Fam162b A G 10: 51,590,334 (GRCm38) W30R probably benign Het
Fam172a C A 13: 77,902,720 (GRCm38) H50N probably benign Het
Fndc3b G A 3: 27,456,451 (GRCm38) Q841* probably null Het
Frzb T A 2: 80,424,601 (GRCm38) Y197F probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 (GRCm38) probably null Het
Gabrb1 G A 5: 71,700,336 (GRCm38) R43Q probably benign Het
Gm21060 A T 19: 61,297,007 (GRCm38) H21Q possibly damaging Het
Gm4825 A G 15: 85,511,044 (GRCm38) noncoding transcript Het
Gm5581 A C 6: 131,168,162 (GRCm38) noncoding transcript Het
Gm9894 T C 13: 67,763,915 (GRCm38) noncoding transcript Het
Gpr15 T A 16: 58,718,007 (GRCm38) I240L probably benign Het
Gria4 A T 9: 4,519,546 (GRCm38) probably benign Het
Grid2 T C 6: 63,908,893 (GRCm38) L91S probably damaging Het
Igsf5 A C 16: 96,378,351 (GRCm38) T215P probably damaging Het
Kif13a G A 13: 46,864,838 (GRCm38) probably benign Het
Kif21a G A 15: 90,970,848 (GRCm38) A703V probably damaging Het
Kif27 T G 13: 58,293,123 (GRCm38) R1159S probably benign Het
Kifc2 T A 15: 76,662,825 (GRCm38) L226H probably damaging Het
Klf10 T C 15: 38,295,996 (GRCm38) H435R probably damaging Het
Masp1 T C 16: 23,452,932 (GRCm38) Y623C probably damaging Het
Megf10 T A 18: 57,212,354 (GRCm38) C118S probably damaging Het
Mical3 A G 6: 120,982,607 (GRCm38) V909A possibly damaging Het
Mmrn2 A G 14: 34,398,475 (GRCm38) probably null Het
Mpeg1 G A 19: 12,462,911 (GRCm38) V578M probably damaging Het
Nlrp2 T C 7: 5,327,738 (GRCm38) E553G probably damaging Het
Nmi A T 2: 51,948,620 (GRCm38) S301T probably benign Het
Nr2f2 G T 7: 70,358,155 (GRCm38) T193K possibly damaging Het
Ntng2 T C 2: 29,197,098 (GRCm38) N404S probably damaging Het
Olfr54 T G 11: 51,027,475 (GRCm38) S158A probably benign Het
Olfr594 T C 7: 103,219,997 (GRCm38) V93A probably benign Het
Oplah G A 15: 76,297,464 (GRCm38) T1119I probably damaging Het
Otoa T A 7: 121,118,569 (GRCm38) D336E probably benign Het
Pde4b A G 4: 102,597,460 (GRCm38) E108G probably damaging Het
Pdgfrb G A 18: 61,061,505 (GRCm38) R118H possibly damaging Het
Phactr4 G A 4: 132,377,248 (GRCm38) T256I probably benign Het
Pla2g3 C T 11: 3,490,983 (GRCm38) T316I probably benign Het
Plekhg4 A G 8: 105,381,464 (GRCm38) E982G probably damaging Het
Pmfbp1 T G 8: 109,530,144 (GRCm38) probably benign Het
Pot1b A T 17: 55,662,531 (GRCm38) Y546N probably damaging Het
Rab11fip5 C A 6: 85,348,991 (GRCm38) Q144H possibly damaging Het
Reep3 A T 10: 67,039,499 (GRCm38) probably null Het
Rgl2 T C 17: 33,933,615 (GRCm38) L400P probably damaging Het
Rnf122 A G 8: 31,124,846 (GRCm38) probably benign Het
Scgb1b21 G T 7: 33,527,378 (GRCm38) noncoding transcript Het
Sec63 A T 10: 42,823,886 (GRCm38) K647N probably damaging Het
Sema4a C T 3: 88,438,176 (GRCm38) probably benign Het
Serpinf1 C T 11: 75,416,419 (GRCm38) V31I probably benign Het
Sez6l C T 5: 112,424,615 (GRCm38) probably benign Het
Shank3 T C 15: 89,557,964 (GRCm38) S1612P possibly damaging Het
Slc19a3 G A 1: 83,022,798 (GRCm38) T166M probably benign Het
Slc22a29 C A 19: 8,169,193 (GRCm38) R415M probably benign Het
Slc38a11 A T 2: 65,330,339 (GRCm38) F304I possibly damaging Het
Slitrk1 T A 14: 108,912,190 (GRCm38) N363I probably damaging Het
Slx4ip A G 2: 137,067,681 (GRCm38) T129A probably benign Het
Spop T C 11: 95,491,711 (GRCm38) V332A possibly damaging Het
Sptlc1 A C 13: 53,358,880 (GRCm38) D147E probably benign Het
Tnpo1 T C 13: 98,852,932 (GRCm38) Y754C probably damaging Het
Tox C A 4: 6,688,886 (GRCm38) V493L probably damaging Het
Ttc27 T A 17: 74,780,856 (GRCm38) M472K probably damaging Het
Ttll7 A G 3: 146,915,795 (GRCm38) probably benign Het
Ttn T A 2: 76,798,212 (GRCm38) M14535L possibly damaging Het
Ttn A T 2: 76,721,760 (GRCm38) C22851S probably benign Het
Txlna T C 4: 129,640,262 (GRCm38) T54A probably benign Het
Usp33 T C 3: 152,380,628 (GRCm38) V668A probably damaging Het
Vmn2r28 C A 7: 5,481,071 (GRCm38) C710F possibly damaging Het
Vmn2r8 T A 5: 108,798,095 (GRCm38) M549L probably benign Het
Vwa5b2 T C 16: 20,602,191 (GRCm38) probably null Het
Wnk1 T C 6: 119,969,247 (GRCm38) I648M probably damaging Het
Other mutations in Ttbk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Ttbk1 APN 17 46,447,063 (GRCm38) missense probably damaging 1.00
IGL02469:Ttbk1 APN 17 46,470,630 (GRCm38) missense possibly damaging 0.77
IGL02826:Ttbk1 APN 17 46,470,660 (GRCm38) missense probably benign
IGL02874:Ttbk1 APN 17 46,470,225 (GRCm38) missense probably benign 0.10
IGL02948:Ttbk1 APN 17 46,446,330 (GRCm38) missense probably benign 0.44
IGL03037:Ttbk1 APN 17 46,446,330 (GRCm38) missense probably benign 0.44
R0165:Ttbk1 UTSW 17 46,478,938 (GRCm38) missense possibly damaging 0.70
R1186:Ttbk1 UTSW 17 46,467,131 (GRCm38) missense probably damaging 1.00
R1228:Ttbk1 UTSW 17 46,476,712 (GRCm38) critical splice donor site probably null
R1423:Ttbk1 UTSW 17 46,446,154 (GRCm38) splice site probably benign
R1477:Ttbk1 UTSW 17 46,476,799 (GRCm38) missense probably benign 0.05
R1960:Ttbk1 UTSW 17 46,480,224 (GRCm38) missense probably damaging 0.99
R4043:Ttbk1 UTSW 17 46,446,762 (GRCm38) missense probably benign 0.21
R4190:Ttbk1 UTSW 17 46,479,247 (GRCm38) missense probably damaging 1.00
R4192:Ttbk1 UTSW 17 46,479,247 (GRCm38) missense probably damaging 1.00
R4193:Ttbk1 UTSW 17 46,479,247 (GRCm38) missense probably damaging 1.00
R4660:Ttbk1 UTSW 17 46,477,788 (GRCm38) nonsense probably null
R5383:Ttbk1 UTSW 17 46,467,416 (GRCm38) missense probably damaging 1.00
R5385:Ttbk1 UTSW 17 46,447,632 (GRCm38) missense probably benign 0.00
R5715:Ttbk1 UTSW 17 46,479,207 (GRCm38) missense probably damaging 0.99
R6218:Ttbk1 UTSW 17 46,470,807 (GRCm38) missense possibly damaging 0.47
R6263:Ttbk1 UTSW 17 46,467,262 (GRCm38) missense probably damaging 1.00
R6471:Ttbk1 UTSW 17 46,467,277 (GRCm38) missense probably benign
R6537:Ttbk1 UTSW 17 46,470,310 (GRCm38) missense probably damaging 0.98
R6552:Ttbk1 UTSW 17 46,478,962 (GRCm38) missense probably benign 0.14
R7564:Ttbk1 UTSW 17 46,476,931 (GRCm38) missense possibly damaging 0.66
R7853:Ttbk1 UTSW 17 46,447,343 (GRCm38) missense probably benign 0.00
R7871:Ttbk1 UTSW 17 46,446,238 (GRCm38) missense probably benign
R7873:Ttbk1 UTSW 17 46,446,568 (GRCm38) missense probably damaging 1.00
R7908:Ttbk1 UTSW 17 46,478,938 (GRCm38) missense probably damaging 1.00
R8210:Ttbk1 UTSW 17 46,480,161 (GRCm38) missense possibly damaging 0.95
R8236:Ttbk1 UTSW 17 46,470,729 (GRCm38) missense probably damaging 1.00
R8754:Ttbk1 UTSW 17 46,445,201 (GRCm38) nonsense probably null
R8829:Ttbk1 UTSW 17 46,446,895 (GRCm38) missense probably damaging 1.00
R8870:Ttbk1 UTSW 17 46,470,735 (GRCm38) missense probably damaging 1.00
R9091:Ttbk1 UTSW 17 46,470,591 (GRCm38) missense possibly damaging 0.48
R9135:Ttbk1 UTSW 17 46,479,206 (GRCm38) nonsense probably null
R9270:Ttbk1 UTSW 17 46,470,591 (GRCm38) missense possibly damaging 0.48
R9605:Ttbk1 UTSW 17 46,473,590 (GRCm38) missense possibly damaging 0.77
R9609:Ttbk1 UTSW 17 46,447,222 (GRCm38) missense probably damaging 0.99
R9617:Ttbk1 UTSW 17 46,447,072 (GRCm38) missense probably damaging 1.00
X0066:Ttbk1 UTSW 17 46,446,856 (GRCm38) missense possibly damaging 0.74
Z1088:Ttbk1 UTSW 17 46,446,325 (GRCm38) missense probably benign 0.35
Z1176:Ttbk1 UTSW 17 46,460,911 (GRCm38) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TCTGCCATCACTAGCACAGG -3'
(R):5'- TCTATGCTTCTGGGCTGAGC -3'

Sequencing Primer
(F):5'- TCACTAGCACAGGGCCTC -3'
(R):5'- CTGTCTGTTTCAGAGGAGAGAAGC -3'
Posted On 2015-05-19