Incidental Mutation 'R9485:Ttbk2'
ID 716498
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9485 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120575986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 997 (T997N)
Ref Sequence ENSEMBL: ENSMUSP00000028740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably benign
Transcript: ENSMUST00000028740
AA Change: T997N

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: T997N

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 probably benign
Transcript: ENSMUST00000057135
AA Change: T928N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: T928N

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 probably benign
Transcript: ENSMUST00000085840
AA Change: T928N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: T928N

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 probably benign
Transcript: ENSMUST00000131389
SMART Domains Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100

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 probably benign
Transcript: ENSMUST00000143051
SMART Domains Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,400 (GRCm39) D855G possibly damaging Het
4930486L24Rik A T 13: 61,001,059 (GRCm39) V159D possibly damaging Het
Ahnak G A 19: 8,979,438 (GRCm39) A241T probably benign Het
Apoa4 T C 9: 46,152,453 (GRCm39) M1T probably null Het
Atn1 T C 6: 124,722,748 (GRCm39) K776E unknown Het
Atp1a2 A G 1: 172,105,822 (GRCm39) *948R probably null Het
Atp7b T C 8: 22,502,778 (GRCm39) Q801R probably damaging Het
Birc6 T A 17: 74,945,398 (GRCm39) S2824T probably damaging Het
Cacng3 A T 7: 122,361,435 (GRCm39) I109F probably damaging Het
Cass4 T C 2: 172,269,805 (GRCm39) F629S probably benign Het
Ccdc168 T G 1: 44,095,399 (GRCm39) K1900Q possibly damaging Het
Cnot6l T C 5: 96,230,858 (GRCm39) T370A probably damaging Het
Cntnap5c A C 17: 58,409,103 (GRCm39) D447A probably damaging Het
Col11a2 T A 17: 34,258,669 (GRCm39) L14Q unknown Het
Dennd4a T G 9: 64,814,388 (GRCm39) Y1505* probably null Het
Dhx32 T C 7: 133,327,110 (GRCm39) M464V possibly damaging Het
Dip2b T C 15: 100,052,924 (GRCm39) V266A probably benign Het
Dnajb6 C T 5: 29,986,517 (GRCm39) Q220* probably null Het
Dnmt3a G A 12: 3,916,121 (GRCm39) S102N probably benign Het
Dph5 A T 3: 115,681,977 (GRCm39) probably benign Het
Ear6 T A 14: 52,091,489 (GRCm39) L12H Het
Erp27 T C 6: 136,886,548 (GRCm39) T162A possibly damaging Het
Fance T A 17: 28,536,479 (GRCm39) L13H probably damaging Het
Fanci T A 7: 79,089,405 (GRCm39) V947D probably benign Het
Gab1 G A 8: 81,515,484 (GRCm39) T278M probably damaging Het
Gbp4 A T 5: 105,269,796 (GRCm39) M344K probably damaging Het
Gpr87 C T 3: 59,087,005 (GRCm39) V167M possibly damaging Het
Gramd1a T G 7: 30,829,963 (GRCm39) D708A unknown Het
Gzmd T A 14: 56,368,160 (GRCm39) I100F probably benign Het
Hcrtr1 T A 4: 130,031,054 (GRCm39) M77L possibly damaging Het
Hipk2 C A 6: 38,680,445 (GRCm39) R965L possibly damaging Het
Ift88 T C 14: 57,675,724 (GRCm39) M79T probably benign Het
Ighv1-12 T C 12: 114,579,525 (GRCm39) Y99C possibly damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Il22b A G 10: 118,130,314 (GRCm39) V63A probably benign Het
Mllt1 C T 17: 57,207,184 (GRCm39) R220H probably damaging Het
Mroh8 T C 2: 157,071,913 (GRCm39) T531A probably benign Het
Myh6 T C 14: 55,181,802 (GRCm39) K1833R probably benign Het
Nfkbie C T 17: 45,871,353 (GRCm39) T270I probably damaging Het
Or4c110 G A 2: 88,831,709 (GRCm39) P308S unknown Het
Or52b3 A T 7: 102,204,013 (GRCm39) N174I probably damaging Het
Or52e5 C T 7: 104,718,703 (GRCm39) H10Y possibly damaging Het
Pcdh8 A T 14: 80,005,689 (GRCm39) F900I probably damaging Het
Pcolce2 T A 9: 95,520,720 (GRCm39) C32* probably null Het
Pus7 A T 5: 23,973,859 (GRCm39) S212T probably benign Het
Rgs12 G T 5: 35,189,614 (GRCm39) W1322L probably damaging Het
Sec1 G A 7: 45,328,033 (GRCm39) T338I probably damaging Het
Slc25a36 T C 9: 96,962,522 (GRCm39) K156E probably benign Het
Snrpn C T 7: 59,637,212 (GRCm39) D35N probably damaging Het
Sox9 A G 11: 112,673,705 (GRCm39) S99G probably benign Het
Spmip3 T C 1: 177,580,545 (GRCm39) V130A possibly damaging Het
Tacc3 T C 5: 33,821,644 (GRCm39) S135P possibly damaging Het
Taf2 T C 15: 54,911,667 (GRCm39) E583G probably benign Het
Tmprss7 T A 16: 45,498,282 (GRCm39) K366* probably null Het
Trpm6 G T 19: 18,755,978 (GRCm39) V74L probably benign Het
Utp25 C A 1: 192,812,541 (GRCm39) probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Vps50 T C 6: 3,592,557 (GRCm39) V730A probably damaging Het
Wdr47 A T 3: 108,544,371 (GRCm39) I665F probably damaging Het
Wnt7a T A 6: 91,343,297 (GRCm39) N195I probably benign Het
Zfp131 A G 13: 120,251,885 (GRCm39) probably benign Het
Zfp709 T A 8: 72,643,669 (GRCm39) V366E possibly damaging Het
Zfp985 T A 4: 147,668,280 (GRCm39) C383S 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
R4966: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
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'- CTCCCAGGAAAGACTTGAACTGC -3'
(R):5'- TTGACCCACATGCTGAAGGG -3'

Sequencing Primer
(F):5'- GGCTGATAGGCTTTCTTCT -3'
(R):5'- CCAGATGGCAGCAATGCAG -3'
Posted On 2022-07-18