Incidental Mutation 'R6135:Ttbk2'
ID 488276
Institutional Source Beutler Lab
Gene Symbol Ttbk2
Ensembl Gene ENSMUSG00000090100
Gene Name tau tubulin kinase 2
Synonyms 2610507N02Rik, B930008N24Rik, TTK
MMRRC Submission 044282-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6135 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120563297-120681085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120580798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 444 (R444C)
Ref Sequence ENSEMBL: ENSMUSP00000083001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000131389] [ENSMUST00000143051]
AlphaFold Q3UVR3
Predicted Effect probably damaging
Transcript: ENSMUST00000028740
AA Change: R513C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: R513C

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: R444C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: R444C

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: R444C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: R444C

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: ENSMUST00000131389
AA Change: R409C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: R409C

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 damaging
Transcript: ENSMUST00000143051
AA Change: R444C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: R444C

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 0.2584 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 100% (55/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,402,335 (GRCm39) E95G probably damaging Het
Abca4 C T 3: 121,932,096 (GRCm39) T250I possibly damaging Het
Ahi1 G A 10: 20,845,020 (GRCm39) R375H probably benign Het
Aimp1 T C 3: 132,377,844 (GRCm39) K174E probably benign Het
Aire A G 10: 77,878,801 (GRCm39) L82P probably damaging Het
Akap13 T A 7: 75,259,656 (GRCm39) V760D possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Carf C T 1: 60,187,122 (GRCm39) S540F probably damaging Het
Ccdc171 T A 4: 83,473,087 (GRCm39) M172K probably benign Het
Chpt1 A T 10: 88,318,145 (GRCm39) V199E possibly damaging Het
Cldn16 G A 16: 26,293,018 (GRCm39) D65N possibly damaging Het
Cnga3 G A 1: 37,271,318 (GRCm39) probably benign Het
Col14a1 A G 15: 55,244,246 (GRCm39) T440A unknown Het
Creb3l3 A G 10: 80,921,552 (GRCm39) I331T probably benign Het
Cul9 T C 17: 46,832,379 (GRCm39) T1410A probably benign Het
Dnm1 T A 2: 32,223,075 (GRCm39) probably null Het
Fhl5 A T 4: 25,214,716 (GRCm39) Y20* probably null Het
Fignl1 T C 11: 11,752,557 (GRCm39) D166G probably benign Het
Ghr T C 15: 3,355,447 (GRCm39) I279V probably benign Het
Gm1979 T G 5: 26,205,298 (GRCm39) S180R probably damaging Het
Hydin T C 8: 111,189,292 (GRCm39) V1232A possibly damaging Het
Ifnar1 A G 16: 91,298,508 (GRCm39) probably null Het
Inpp5d A G 1: 87,548,119 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnh2 T A 5: 24,526,791 (GRCm39) S1002C probably damaging Het
Krt87 T A 15: 101,385,415 (GRCm39) E319V probably damaging Het
Lbp A G 2: 158,159,469 (GRCm39) I201V probably benign Het
Man1a2 G A 3: 100,592,248 (GRCm39) probably benign Het
Myh8 A G 11: 67,188,326 (GRCm39) T996A possibly damaging Het
Nat10 A G 2: 103,573,661 (GRCm39) L319P probably damaging Het
Nelfa A G 5: 34,056,620 (GRCm39) probably null Het
Or5b97 A C 19: 12,878,803 (GRCm39) Y114D probably damaging Het
Pcdha11 T A 18: 37,138,870 (GRCm39) N166K probably damaging Het
Pcdha6 C A 18: 37,102,269 (GRCm39) N487K probably damaging Het
Pcsk2 A G 2: 143,415,460 (GRCm39) D91G possibly damaging Het
Pigp A G 16: 94,171,065 (GRCm39) F22L probably benign Het
Pnpla8 A C 12: 44,329,670 (GRCm39) N74T probably benign Het
Ppargc1b T C 18: 61,448,980 (GRCm39) K114R probably damaging Het
Ppfia2 A G 10: 106,693,430 (GRCm39) D645G probably damaging Het
Rnf213 G A 11: 119,332,854 (GRCm39) V2688I probably benign Het
Rnf43 A G 11: 87,622,951 (GRCm39) H557R probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Rrp9 G A 9: 106,360,221 (GRCm39) D210N probably damaging Het
Scin G T 12: 40,129,807 (GRCm39) Q329K possibly damaging Het
Scn7a T A 2: 66,534,244 (GRCm39) H477L probably benign Het
Slc26a8 A T 17: 28,888,914 (GRCm39) M195K probably benign Het
Spata13 A G 14: 60,993,877 (GRCm39) K1110E probably damaging Het
Spata24 T A 18: 35,793,503 (GRCm39) E103V probably damaging Het
Srek1 T C 13: 103,910,894 (GRCm39) N25S probably damaging Het
Strada T C 11: 106,064,140 (GRCm39) Y59C probably damaging Het
Tnrc6c T C 11: 117,626,831 (GRCm39) W1143R probably damaging Het
Trip12 A T 1: 84,738,559 (GRCm39) D765E probably benign Het
Ush2a T A 1: 188,644,303 (GRCm39) I4555N possibly damaging Het
Vcan C T 13: 89,838,045 (GRCm39) E2500K probably benign Het
Vps16 A G 2: 130,280,573 (GRCm39) Y200C possibly damaging Het
Wdfy4 T A 14: 32,693,668 (GRCm39) H2719L probably damaging Het
Zfhx2 T C 14: 55,311,653 (GRCm39) D347G possibly damaging Het
Zfp653 G A 9: 21,969,558 (GRCm39) T236I probably damaging Het
Zscan4-ps1 A T 7: 10,799,913 (GRCm39) H325Q probably benign 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
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'- GGAAACTCAATGGTGTCAGTG -3'
(R):5'- AGGCATCAGTGATTTCTCCC -3'

Sequencing Primer
(F):5'- CTCAATGGTGTCAGTGTTATAAAAAC -3'
(R):5'- CATCAGTGATTTCTCCCATGTATAAG -3'
Posted On 2017-10-10