Incidental Mutation 'R9051:Ttbk2'
ID 688339
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 068877-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 120575911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 1022 (S1022*)
Ref Sequence ENSEMBL: ENSMUSP00000028740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably null
Transcript: ENSMUST00000028740
AA Change: S1022*
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: S1022*

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 null
Transcript: ENSMUST00000057135
AA Change: S953*
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: S953*

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 null
Transcript: ENSMUST00000085840
AA Change: S953*
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: S953*

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: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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
Abca13 A T 11: 9,285,232 (GRCm39) T3289S probably damaging Het
Actr1b G T 1: 36,740,534 (GRCm39) Q240K probably benign Het
Adamts19 T C 18: 59,034,048 (GRCm39) V341A probably damaging Het
Akirin2 C A 4: 34,551,148 (GRCm39) S35* probably null Het
Alg3 G T 16: 20,427,765 (GRCm39) Q90K probably benign Het
Alox12 C T 11: 70,138,153 (GRCm39) R394H possibly damaging Het
Ankrd17 A C 5: 90,411,134 (GRCm39) M1387R probably damaging Het
Anp32b T G 4: 46,468,592 (GRCm39) F121V possibly damaging Het
Atp2b2 A G 6: 113,740,566 (GRCm39) V815A probably damaging Het
Atxn7l1 T C 12: 33,417,420 (GRCm39) L527S probably benign Het
B9d2 C T 7: 25,385,462 (GRCm39) L91F possibly damaging Het
Bcl2l11 T A 2: 128,000,221 (GRCm39) I188N probably damaging Het
Bnc2 A C 4: 84,210,138 (GRCm39) S744A probably benign Het
Casr T G 16: 36,330,414 (GRCm39) M307L probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cd109 TTATA TTATATATA 9: 78,619,813 (GRCm39) probably benign Het
Cd22 A G 7: 30,575,449 (GRCm39) S198P probably benign Het
Cd37 C A 7: 44,886,622 (GRCm39) V99L probably benign Het
Cdkn1c A G 7: 143,013,964 (GRCm39) S161P possibly damaging Het
Chi3l1 G T 1: 134,111,919 (GRCm39) probably null Het
Col4a2 T C 8: 11,498,198 (GRCm39) F1669S probably damaging Het
Dchs2 A T 3: 83,261,493 (GRCm39) H2587L probably benign Het
Ddx19a A T 8: 111,710,228 (GRCm39) M124K probably benign Het
Dnhd1 A T 7: 105,341,933 (GRCm39) H1244L possibly damaging Het
Dnpep G A 1: 75,292,329 (GRCm39) P165L probably damaging Het
Dpp3 T C 19: 4,973,172 (GRCm39) R141G probably benign Het
Dpysl3 T C 18: 43,462,814 (GRCm39) D521G probably damaging Het
Dusp4 T A 8: 35,284,345 (GRCm39) M220K probably damaging Het
Duxf4 G A 10: 58,071,711 (GRCm39) P168S probably damaging Het
Edc4 T A 8: 106,613,833 (GRCm39) L391Q probably damaging Het
Edrf1 A C 7: 133,273,207 (GRCm39) I1221L probably benign Het
Elavl2 A G 4: 91,199,847 (GRCm39) L12P probably benign Het
Fastkd3 T A 13: 68,733,071 (GRCm39) V464D probably damaging Het
Flt4 C A 11: 49,527,598 (GRCm39) N920K probably benign Het
Gimap3 T C 6: 48,742,259 (GRCm39) T224A probably benign Het
Gm9772 T A 17: 22,225,565 (GRCm39) K112* probably null Het
Gp5 C A 16: 30,127,976 (GRCm39) V233L Het
Gpr25 A T 1: 136,188,026 (GRCm39) W196R probably benign Het
Hs3st4 G A 7: 123,582,680 (GRCm39) G93S probably damaging Het
Igsf10 A G 3: 59,236,668 (GRCm39) L1171S probably benign Het
Itgb7 C T 15: 102,126,359 (GRCm39) G526S possibly damaging Het
Kcnh8 G A 17: 53,141,642 (GRCm39) C295Y probably damaging Het
Klhl8 A G 5: 104,015,709 (GRCm39) probably null Het
Krt1c T A 15: 101,726,317 (GRCm39) I74F unknown Het
Lamp5 G T 2: 135,911,054 (GRCm39) M262I probably benign Het
Lrp5 G T 19: 3,680,156 (GRCm39) R443S possibly damaging Het
Lrrc66 G T 5: 73,765,267 (GRCm39) A592E probably benign Het
Lrrc66 C T 5: 73,765,268 (GRCm39) A592T probably benign Het
Mettl23 T A 11: 116,744,865 (GRCm39) V93D unknown Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mkrn2os G A 6: 115,562,325 (GRCm39) R213W probably benign Het
Mrps36 T A 13: 100,877,715 (GRCm39) I22L probably damaging Het
Msantd5f4 A G 4: 73,557,185 (GRCm39) N6S possibly damaging Het
Myocd T C 11: 65,077,795 (GRCm39) R667G probably benign Het
Ncapg T A 5: 45,853,140 (GRCm39) L869M probably damaging Het
Ndst3 T C 3: 123,465,549 (GRCm39) N141S probably benign Het
Neu2 A T 1: 87,524,965 (GRCm39) R317* probably null Het
Nf1 G T 11: 79,364,168 (GRCm39) V1533F probably damaging Het
Npy4r T A 14: 33,869,083 (GRCm39) R68S possibly damaging Het
Nr1h5 T C 3: 102,853,427 (GRCm39) H360R probably null Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or4f14c T C 2: 111,941,441 (GRCm39) D52G probably damaging Het
Or9s15 T C 1: 92,524,978 (GRCm39) S246P probably damaging Het
Osmr A C 15: 6,882,027 (GRCm39) V39G probably damaging Het
Plekhm2 T C 4: 141,359,732 (GRCm39) D345G possibly damaging Het
Prkaa2 G T 4: 104,906,600 (GRCm39) S165* probably null Het
Qser1 A T 2: 104,593,292 (GRCm39) F1575Y possibly damaging Het
Rasl11a C A 5: 146,782,107 (GRCm39) D27E probably benign Het
Ret A T 6: 118,142,888 (GRCm39) Y929* probably null Het
Samd9l T A 6: 3,373,493 (GRCm39) E1256V probably benign Het
Scnn1g A G 7: 121,341,566 (GRCm39) I243V possibly damaging Het
Slc6a3 C T 13: 73,718,031 (GRCm39) R514* probably null Het
Sorcs3 C T 19: 48,194,809 (GRCm39) A64V probably benign Het
Sos1 G T 17: 80,715,723 (GRCm39) N1011K probably benign Het
Srbd1 C A 17: 86,428,115 (GRCm39) A373S possibly damaging Het
Tas1r1 C T 4: 152,122,833 (GRCm39) W4* probably null Het
Tcf15 C T 2: 151,985,690 (GRCm39) R49C probably damaging Het
Tex30 A G 1: 44,127,136 (GRCm39) V124A possibly damaging Het
Tgif1 T C 17: 71,151,882 (GRCm39) D243G Het
Tgtp1 T G 11: 48,877,916 (GRCm39) D263A probably damaging Het
Themis3 T A 17: 66,862,864 (GRCm39) T365S probably benign Het
Thoc2l C A 5: 104,666,818 (GRCm39) P447T probably benign Het
Tprg1 A T 16: 25,231,662 (GRCm39) I213F probably damaging Het
Traf4 A T 11: 78,052,005 (GRCm39) C160S probably damaging Het
Trio T C 15: 27,732,770 (GRCm39) E3037G possibly damaging Het
Ttc6 T C 12: 57,783,949 (GRCm39) Y1803H probably damaging Het
Ttn A C 2: 76,549,452 (GRCm39) Y31742D probably benign Het
Ttn G T 2: 76,617,595 (GRCm39) P16292Q probably damaging Het
Ubr5 A G 15: 38,002,503 (GRCm39) V1510A Het
Vac14 A G 8: 111,379,869 (GRCm39) D389G probably benign Het
Vwa8 A G 14: 79,324,150 (GRCm39) D1151G probably benign Het
Zfp608 T C 18: 55,032,266 (GRCm39) N558S 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
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'- AGCGAAGACTTCCTCCTCAG -3'
(R):5'- TTCAGAGTGAAAGCTTGCCAAG -3'

Sequencing Primer
(F):5'- TTCCTCCTCAGAAAAAGGGACTGG -3'
(R):5'- CCAAGGCAGCAGGGAGAC -3'
Posted On 2021-11-19