Incidental Mutation 'R4962:Ttbk2'
ID 381802
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 042559-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4962 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120575631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1115 (Q1115H)
Ref Sequence ENSEMBL: ENSMUSP00000028740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably damaging
Transcript: ENSMUST00000028740
AA Change: Q1115H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: Q1115H

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 damaging
Transcript: ENSMUST00000057135
AA Change: Q1046H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: Q1046H

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 damaging
Transcript: ENSMUST00000085840
AA Change: Q1046H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: Q1046H

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: 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,314,728 (GRCm39) F317L possibly damaging Het
Abcc4 A G 14: 118,905,811 (GRCm39) I85T probably benign Het
Acoxl G T 2: 127,917,810 (GRCm39) C498F probably damaging Het
Akap13 C T 7: 75,399,178 (GRCm39) T2752I probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ap2a2 T G 7: 141,210,061 (GRCm39) F836C probably damaging Het
Atp2c1 A G 9: 105,320,149 (GRCm39) V404A probably benign Het
Atp7b G T 8: 22,510,901 (GRCm39) A415E probably damaging Het
Babam2 A T 5: 31,942,927 (GRCm39) I71L possibly damaging Het
Bean1 A G 8: 104,943,606 (GRCm39) T54A probably damaging Het
Cacna1b T A 2: 24,508,330 (GRCm39) I1816F probably damaging Het
Cacna1b C T 2: 24,547,378 (GRCm39) G1202D probably damaging Het
Casp8ap2 A G 4: 32,640,554 (GRCm39) E536G probably damaging Het
Cfap57 A G 4: 118,470,262 (GRCm39) V206A probably benign Het
Clca3a2 A T 3: 144,783,640 (GRCm39) D658E probably damaging Het
Cwc22 A T 2: 77,726,653 (GRCm39) S809T probably benign Het
Cyp2c54 C T 19: 40,060,585 (GRCm39) R132Q possibly damaging Het
Ddx20 A T 3: 105,587,921 (GRCm39) D386E possibly damaging Het
Ddx50 T C 10: 62,478,632 (GRCm39) T185A probably damaging Het
Decr1 G A 4: 15,930,976 (GRCm39) R119* probably null Het
Dennd4a T C 9: 64,813,285 (GRCm39) S1415P probably benign Het
Dnah12 A T 14: 26,437,855 (GRCm39) I495L probably benign Het
Dnah2 G A 11: 69,346,799 (GRCm39) Q2596* probably null Het
Dnajb13 A G 7: 100,156,707 (GRCm39) L123S probably benign Het
Drgx G T 14: 32,369,101 (GRCm39) probably benign Het
Elavl3 G A 9: 21,948,107 (GRCm39) P19L probably benign Het
Fer1l6 T C 15: 58,443,250 (GRCm39) S518P probably benign Het
Fgd3 T C 13: 49,420,105 (GRCm39) S591G probably benign Het
Galnt18 C A 7: 111,071,271 (GRCm39) R566L probably benign Het
Galnt6 A T 15: 100,594,455 (GRCm39) Y525* probably null Het
Gm10036 A T 18: 15,966,359 (GRCm39) Y170F probably benign Het
Hacd2 A G 16: 34,842,921 (GRCm39) D24G unknown Het
Idh3a T C 9: 54,503,325 (GRCm39) M128T possibly damaging Het
Ido1 C T 8: 25,074,565 (GRCm39) M359I probably benign Het
Ikbkb T C 8: 23,171,693 (GRCm39) T185A probably damaging Het
Insl6 C T 19: 29,299,019 (GRCm39) G131D probably damaging Het
Irgm1 A C 11: 48,757,159 (GRCm39) S217R possibly damaging Het
Itga11 T A 9: 62,668,850 (GRCm39) Y702* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kansl2 T C 15: 98,429,724 (GRCm39) M103V probably benign Het
Kcnq2 T C 2: 180,753,836 (GRCm39) N258S possibly damaging Het
Kdm5d A T Y: 940,624 (GRCm39) D1045V probably damaging Het
Lats2 A G 14: 57,937,049 (GRCm39) L480P probably damaging Het
Lin28b T A 10: 45,296,736 (GRCm39) K87N possibly damaging Het
Lpgat1 T A 1: 191,451,682 (GRCm39) W103R probably damaging Het
Lpl G T 8: 69,347,345 (GRCm39) G166C probably damaging Het
Ly75 A T 2: 60,182,469 (GRCm39) Y569N probably damaging Het
Mcm8 A T 2: 132,680,689 (GRCm39) E564D probably damaging Het
Me2 G T 18: 73,918,847 (GRCm39) N411K probably damaging Het
Mn1 A G 5: 111,602,652 (GRCm39) T1297A possibly damaging Het
Mphosph8 T A 14: 56,916,046 (GRCm39) F447L probably benign Het
Nacad T A 11: 6,549,169 (GRCm39) D1294V probably damaging Het
Neu3 A T 7: 99,472,615 (GRCm39) F41I probably damaging Het
Nlrp6 G T 7: 140,503,497 (GRCm39) L534F probably damaging Het
Nrap A G 19: 56,366,575 (GRCm39) M338T probably damaging Het
Nuak1 T C 10: 84,210,979 (GRCm39) K370E probably damaging Het
Or10ab4 T A 7: 107,654,647 (GRCm39) C153S probably benign Het
Or4d10 T A 19: 12,051,639 (GRCm39) D119V probably damaging Het
Or5w8 A G 2: 87,687,632 (GRCm39) T38A probably benign Het
Or6c212 C T 10: 129,558,592 (GRCm39) V274M probably damaging Het
P3h3 T C 6: 124,818,736 (GRCm39) S701G probably benign Het
Pdss2 T C 10: 43,174,908 (GRCm39) M138T possibly damaging Het
Piezo1 C T 8: 123,213,220 (GRCm39) E1848K probably benign Het
Prmt3 T G 7: 49,476,557 (GRCm39) S389A probably benign Het
Prune2 T A 19: 17,099,637 (GRCm39) F1714I probably benign Het
Ptgis A G 2: 167,067,194 (GRCm39) probably null Het
Ptpn20 T C 14: 33,336,416 (GRCm39) V85A probably benign Het
Rabepk A T 2: 34,670,669 (GRCm39) Y264N probably damaging Het
Ralgapa2 A T 2: 146,276,754 (GRCm39) C495* probably null Het
Satb2 A G 1: 56,930,327 (GRCm39) I232T probably benign Het
Selenbp2 A T 3: 94,610,856 (GRCm39) L307F probably damaging Het
Sgpl1 T G 10: 60,949,863 (GRCm39) Y112S probably damaging Het
Slitrk5 T C 14: 111,918,679 (GRCm39) S768P probably benign Het
Smc3 T A 19: 53,619,948 (GRCm39) Y615N probably damaging Het
Spag17 A G 3: 99,934,939 (GRCm39) N715S probably benign Het
Spats2 A G 15: 99,110,157 (GRCm39) E518G probably benign Het
Spats2l A G 1: 57,924,983 (GRCm39) H127R possibly damaging Het
Tenm3 T A 8: 48,731,996 (GRCm39) K1287* probably null Het
Thoc1 T A 18: 9,962,387 (GRCm39) S91T probably benign Het
Thoc6 C T 17: 23,888,911 (GRCm39) G166S probably damaging Het
Tmem107 C A 11: 68,962,087 (GRCm39) T42N possibly damaging Het
Tmprss11c A G 5: 86,385,569 (GRCm39) I288T probably damaging Het
Tnrc18 A G 5: 142,725,248 (GRCm39) F1827S unknown Het
Trmt112 C A 19: 6,887,566 (GRCm39) T5N probably damaging Het
Trp53bp1 A T 2: 121,101,027 (GRCm39) M57K probably benign Het
Ttn C A 2: 76,559,989 (GRCm39) E27725* probably null Het
Ttn A G 2: 76,774,453 (GRCm39) M2151T probably damaging Het
Usp9y A T Y: 1,384,336 (GRCm39) D727E probably damaging Het
Vps13c A G 9: 67,781,173 (GRCm39) T221A probably damaging Het
Zbtb20 A G 16: 43,439,055 (GRCm39) D725G probably damaging Het
Zfp341 A T 2: 154,468,734 (GRCm39) I126F possibly damaging Het
Zfyve16 C T 13: 92,650,402 (GRCm39) A861T 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
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
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'- TTCGACCACTGCTGTCATATGTATG -3'
(R):5'- AAGGCAGTTCAAGTCTTTCCTG -3'

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