Incidental Mutation 'R4966:Ttbk2'
ID 383989
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 042562-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4966 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120603758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 258 (F258L)
Ref Sequence ENSEMBL: ENSMUSP00000083001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably benign
Transcript: ENSMUST00000028740
AA Change: F327L

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: F327L

DomainStartEndE-ValueType
Pfam:Pkinase 90 347 7e-31 PFAM
Pfam:Pkinase_Tyr 90 348 8.2e-19 PFAM
low complexity region 369 383 N/A INTRINSIC
low complexity region 1143 1156 N/A INTRINSIC
low complexity region 1205 1242 N/A INTRINSIC
low complexity region 1254 1271 N/A INTRINSIC
low complexity region 1285 1309 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000057135
AA Change: F258L

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: F258L

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 1.2e-32 PFAM
Pfam:Pkinase_Tyr 21 280 3.8e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
low complexity region 1074 1087 N/A INTRINSIC
low complexity region 1136 1173 N/A INTRINSIC
low complexity region 1185 1202 N/A INTRINSIC
low complexity region 1216 1240 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000085840
AA Change: F258L

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: F258L

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 1.2e-32 PFAM
Pfam:Pkinase_Tyr 21 280 3.8e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
low complexity region 1074 1087 N/A INTRINSIC
low complexity region 1136 1173 N/A INTRINSIC
low complexity region 1185 1202 N/A INTRINSIC
low complexity region 1216 1240 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131389
AA Change: F223L

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: F223L

DomainStartEndE-ValueType
Pfam:Pkinase 21 145 1.3e-18 PFAM
Pfam:Pkinase_Tyr 21 148 9.7e-12 PFAM
Pfam:Pkinase 145 239 1.2e-5 PFAM
low complexity region 265 279 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143051
AA Change: F258L

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: F258L

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 2.4e-32 PFAM
Pfam:Pkinase_Tyr 21 280 7.7e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Meta Mutation Damage Score 0.6437 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 96% (94/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,850,626 (GRCm39) probably benign Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Actn1 T C 12: 80,219,904 (GRCm39) I656V probably benign Het
Arhgef15 A G 11: 68,838,143 (GRCm39) V659A probably benign Het
AW551984 T C 9: 39,508,472 (GRCm39) E348G possibly damaging Het
Bbs2 A T 8: 94,807,435 (GRCm39) V453E probably damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cyld A G 8: 89,468,929 (GRCm39) I567V possibly damaging Het
Dact3 G C 7: 16,620,013 (GRCm39) V503L unknown Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drc7 G A 8: 95,798,224 (GRCm39) E490K probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
Fgfr1 C A 8: 26,062,461 (GRCm39) Y665* probably null Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gpr45 A G 1: 43,072,280 (GRCm39) T308A probably benign Het
Grm1 T A 10: 10,595,409 (GRCm39) K740* probably null Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ino80c T C 18: 24,239,702 (GRCm39) D153G probably damaging Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Myh11 T C 16: 14,023,818 (GRCm39) E1512G probably damaging Het
Myo5c T C 9: 75,176,878 (GRCm39) S608P probably benign Het
Myo9a A G 9: 59,779,017 (GRCm39) D1591G probably benign Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nlgn1 C T 3: 25,974,401 (GRCm39) G165D possibly damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Nup205 G A 6: 35,220,784 (GRCm39) R1862H probably benign Het
Nup210l A G 3: 90,014,208 (GRCm39) H65R probably benign Het
Or2y16 A G 11: 49,334,945 (GRCm39) D89G possibly damaging Het
Or9k7 A T 10: 130,046,306 (GRCm39) M231K probably benign Het
Pcmtd1 C A 1: 7,231,233 (GRCm39) Y176* probably null Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rdx T C 9: 51,986,309 (GRCm39) V372A probably benign Het
Reep6 T A 10: 80,169,633 (GRCm39) F107Y probably benign Het
Rere G T 4: 150,698,273 (GRCm39) probably benign Het
Rmdn2 G T 17: 79,974,304 (GRCm39) A266S probably damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Rnpepl1 A T 1: 92,844,483 (GRCm39) N325I probably damaging Het
Rps6ka5 T A 12: 100,519,325 (GRCm39) M763L probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3j T A 12: 104,286,043 (GRCm39) C399* probably null Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sim2 T C 16: 93,924,280 (GRCm39) V475A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Snrnp25 A G 11: 32,157,595 (GRCm39) K58E probably damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tm2d3 A G 7: 65,347,469 (GRCm39) N101S possibly damaging Het
Tmem201 G T 4: 149,803,144 (GRCm39) Q575K probably benign Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trak2 G A 1: 58,958,480 (GRCm39) T267I probably damaging Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Uroc1 T C 6: 90,322,376 (GRCm39) L300P probably damaging Het
Vmn2r67 A T 7: 84,785,593 (GRCm39) V804E probably damaging Het
Wdr81 T A 11: 75,336,775 (GRCm39) Q1538L probably benign Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign Het
Zmat4 T C 8: 24,392,085 (GRCm39) S83P probably damaging Het
Other mutations in Ttbk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Ttbk2 APN 2 120,579,314 (GRCm39) nonsense probably null
IGL00484:Ttbk2 APN 2 120,604,367 (GRCm39) nonsense probably null
IGL00767:Ttbk2 APN 2 120,576,226 (GRCm39) missense probably benign
IGL00809:Ttbk2 APN 2 120,590,750 (GRCm39) missense probably damaging 1.00
IGL01484:Ttbk2 APN 2 120,570,314 (GRCm39) missense possibly damaging 0.95
IGL01974:Ttbk2 APN 2 120,616,564 (GRCm39) missense probably damaging 1.00
IGL02488:Ttbk2 APN 2 120,586,352 (GRCm39) missense probably benign 0.00
IGL02874:Ttbk2 APN 2 120,576,193 (GRCm39) missense probably damaging 0.99
IGL02893:Ttbk2 APN 2 120,614,210 (GRCm39) missense probably damaging 1.00
IGL03210:Ttbk2 APN 2 120,652,973 (GRCm39) missense probably damaging 0.99
R0279:Ttbk2 UTSW 2 120,579,441 (GRCm39) missense probably benign 0.00
R0362:Ttbk2 UTSW 2 120,576,264 (GRCm39) missense possibly damaging 0.90
R0376:Ttbk2 UTSW 2 120,608,062 (GRCm39) missense probably damaging 1.00
R0400:Ttbk2 UTSW 2 120,580,723 (GRCm39) missense probably benign 0.02
R0601:Ttbk2 UTSW 2 120,655,777 (GRCm39) missense possibly damaging 0.73
R0606:Ttbk2 UTSW 2 120,604,353 (GRCm39) missense probably damaging 1.00
R0664:Ttbk2 UTSW 2 120,579,302 (GRCm39) missense probably damaging 0.99
R0718:Ttbk2 UTSW 2 120,579,056 (GRCm39) missense probably benign 0.01
R0718:Ttbk2 UTSW 2 120,575,641 (GRCm39) missense probably benign 0.00
R0783:Ttbk2 UTSW 2 120,570,458 (GRCm39) missense possibly damaging 0.74
R0906:Ttbk2 UTSW 2 120,614,262 (GRCm39) missense probably damaging 1.00
R1141:Ttbk2 UTSW 2 120,637,332 (GRCm39) missense probably damaging 1.00
R1363:Ttbk2 UTSW 2 120,637,389 (GRCm39) critical splice acceptor site probably null
R1420:Ttbk2 UTSW 2 120,576,393 (GRCm39) missense probably benign 0.00
R1734:Ttbk2 UTSW 2 120,586,319 (GRCm39) missense probably benign 0.01
R2033:Ttbk2 UTSW 2 120,637,330 (GRCm39) missense probably damaging 0.98
R2047:Ttbk2 UTSW 2 120,579,397 (GRCm39) missense probably damaging 0.99
R2893:Ttbk2 UTSW 2 120,576,091 (GRCm39) splice site probably null
R3783:Ttbk2 UTSW 2 120,604,296 (GRCm39) splice site probably benign
R3785:Ttbk2 UTSW 2 120,604,296 (GRCm39) splice site probably benign
R3870:Ttbk2 UTSW 2 120,570,500 (GRCm39) missense probably damaging 1.00
R4024:Ttbk2 UTSW 2 120,590,736 (GRCm39) missense possibly damaging 0.91
R4039:Ttbk2 UTSW 2 120,576,276 (GRCm39) missense probably benign 0.01
R4060:Ttbk2 UTSW 2 120,579,465 (GRCm39) missense probably benign 0.26
R4624:Ttbk2 UTSW 2 120,603,804 (GRCm39) missense probably benign 0.19
R4634:Ttbk2 UTSW 2 120,570,673 (GRCm39) missense probably damaging 1.00
R4708:Ttbk2 UTSW 2 120,570,342 (GRCm39) missense probably damaging 1.00
R4727:Ttbk2 UTSW 2 120,575,851 (GRCm39) missense probably benign 0.01
R4811:Ttbk2 UTSW 2 120,570,551 (GRCm39) missense possibly damaging 0.62
R4962:Ttbk2 UTSW 2 120,575,631 (GRCm39) missense probably damaging 1.00
R4964:Ttbk2 UTSW 2 120,603,758 (GRCm39) missense possibly damaging 0.66
R5369:Ttbk2 UTSW 2 120,655,743 (GRCm39) start gained probably benign
R5430:Ttbk2 UTSW 2 120,608,046 (GRCm39) missense probably damaging 1.00
R5607:Ttbk2 UTSW 2 120,637,305 (GRCm39) missense possibly damaging 0.89
R5812:Ttbk2 UTSW 2 120,653,040 (GRCm39) missense probably damaging 0.99
R5898:Ttbk2 UTSW 2 120,575,521 (GRCm39) missense probably benign 0.08
R5951:Ttbk2 UTSW 2 120,603,764 (GRCm39) missense probably benign 0.02
R6135:Ttbk2 UTSW 2 120,580,798 (GRCm39) missense probably damaging 1.00
R6889:Ttbk2 UTSW 2 120,603,834 (GRCm39) missense probably damaging 1.00
R6907:Ttbk2 UTSW 2 120,655,751 (GRCm39) missense probably benign 0.00
R7013:Ttbk2 UTSW 2 120,576,265 (GRCm39) missense possibly damaging 0.89
R7128:Ttbk2 UTSW 2 120,576,569 (GRCm39) missense probably benign 0.00
R7173:Ttbk2 UTSW 2 120,570,592 (GRCm39) missense probably damaging 1.00
R7358:Ttbk2 UTSW 2 120,620,791 (GRCm39) missense probably damaging 1.00
R7475:Ttbk2 UTSW 2 120,579,121 (GRCm39) missense probably benign 0.01
R7891:Ttbk2 UTSW 2 120,616,510 (GRCm39) missense probably damaging 1.00
R8529:Ttbk2 UTSW 2 120,604,338 (GRCm39) missense possibly damaging 0.67
R9050:Ttbk2 UTSW 2 120,637,319 (GRCm39) missense probably benign 0.09
R9051:Ttbk2 UTSW 2 120,575,911 (GRCm39) nonsense probably null
R9372:Ttbk2 UTSW 2 120,603,766 (GRCm39) missense probably benign 0.31
R9485:Ttbk2 UTSW 2 120,575,986 (GRCm39) missense probably benign 0.32
R9675:Ttbk2 UTSW 2 120,637,241 (GRCm39) missense probably benign 0.14
RF010:Ttbk2 UTSW 2 120,620,820 (GRCm39) nonsense probably null
RF021:Ttbk2 UTSW 2 120,579,115 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTTTGCACACATTCCACATCAC -3'
(R):5'- TGCATAGCCTGTTTCAATCTTGAC -3'

Sequencing Primer
(F):5'- ACCAGCATCATGTTCATTTCAC -3'
(R):5'- ACAGTGTTAATCGTCAGTGTGTAAGC -3'
Posted On 2016-04-27