Incidental Mutation 'R3870:Ttbk2'
ID |
276485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
040789-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3870 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 120570500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1149
(S1149R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028740
AA Change: S1218R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: S1218R
Domain | Start | End | E-Value | Type |
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: S1149R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: S1149R
Domain | Start | End | E-Value | Type |
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: S1149R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: S1149R
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000148285
|
Meta Mutation Damage Score |
0.1355 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
90% (61/68) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028J19Rik |
T |
A |
7: 43,880,828 (GRCm39) |
|
probably null |
Het |
Adam22 |
C |
A |
5: 8,182,418 (GRCm39) |
C514F |
probably damaging |
Het |
Akap8 |
G |
A |
17: 32,536,813 (GRCm39) |
|
probably benign |
Het |
Armcx2 |
A |
T |
X: 133,707,048 (GRCm39) |
V195E |
probably benign |
Het |
Atg7 |
T |
C |
6: 114,674,008 (GRCm39) |
S301P |
possibly damaging |
Het |
Cc2d2a |
C |
A |
5: 43,876,033 (GRCm39) |
Y1003* |
probably null |
Het |
Ccdc93 |
A |
G |
1: 121,390,843 (GRCm39) |
S272G |
probably benign |
Het |
Ces1d |
C |
G |
8: 93,901,714 (GRCm39) |
L418F |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
Cplane1 |
A |
T |
15: 8,247,948 (GRCm39) |
K1499M |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Ehd4 |
T |
A |
2: 119,967,434 (GRCm39) |
D120V |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,824,211 (GRCm39) |
V71E |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,256,853 (GRCm39) |
|
probably benign |
Het |
Glud1 |
T |
A |
14: 34,047,537 (GRCm39) |
|
probably benign |
Het |
Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
Gm11555 |
G |
T |
11: 99,540,816 (GRCm39) |
C64* |
probably null |
Het |
Gm5468 |
A |
G |
15: 25,414,561 (GRCm39) |
|
probably benign |
Het |
Gpatch2 |
T |
A |
1: 187,054,491 (GRCm39) |
L74Q |
probably damaging |
Het |
Hnrnpa0 |
G |
A |
13: 58,275,713 (GRCm39) |
R139C |
probably damaging |
Het |
Hrh1 |
A |
G |
6: 114,457,880 (GRCm39) |
Y387C |
probably damaging |
Het |
Ldb3 |
A |
T |
14: 34,289,440 (GRCm39) |
D216E |
probably damaging |
Het |
Lingo1 |
A |
T |
9: 56,527,009 (GRCm39) |
S533T |
probably benign |
Het |
Lmtk2 |
T |
G |
5: 144,103,245 (GRCm39) |
|
probably benign |
Het |
Map1s |
A |
G |
8: 71,369,745 (GRCm39) |
E939G |
possibly damaging |
Het |
Mast1 |
G |
A |
8: 85,645,360 (GRCm39) |
T695I |
probably damaging |
Het |
Mettl21e |
G |
A |
1: 44,245,524 (GRCm39) |
R241W |
probably benign |
Het |
Mfsd4a |
G |
A |
1: 131,974,091 (GRCm39) |
T261I |
probably damaging |
Het |
Mmel1 |
T |
C |
4: 154,968,095 (GRCm39) |
S144P |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,492,239 (GRCm39) |
H727L |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,257,477 (GRCm39) |
|
probably null |
Het |
Nipa2 |
T |
C |
7: 55,582,690 (GRCm39) |
R352G |
probably damaging |
Het |
Oaf |
C |
T |
9: 43,134,055 (GRCm39) |
R222Q |
probably benign |
Het |
Or2ag2b |
T |
A |
7: 106,418,047 (GRCm39) |
Y252* |
probably null |
Het |
Pard3 |
T |
C |
8: 128,136,167 (GRCm39) |
S847P |
probably damaging |
Het |
Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
Plcb1 |
A |
C |
2: 135,167,591 (GRCm39) |
I462L |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,230,416 (GRCm39) |
V814A |
possibly damaging |
Het |
Rasal3 |
G |
A |
17: 32,612,522 (GRCm39) |
R780W |
possibly damaging |
Het |
Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
Ryk |
A |
G |
9: 102,768,427 (GRCm39) |
E359G |
probably damaging |
Het |
Sall2 |
C |
A |
14: 52,551,451 (GRCm39) |
L579F |
probably damaging |
Het |
Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
Scg3 |
T |
C |
9: 75,582,781 (GRCm39) |
|
probably benign |
Het |
Slc35f5 |
A |
G |
1: 125,490,098 (GRCm39) |
T65A |
probably benign |
Het |
Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,762 (GRCm39) |
S180R |
probably benign |
Het |
Stxbp2 |
A |
G |
8: 3,684,079 (GRCm39) |
T129A |
probably damaging |
Het |
Tas1r3 |
A |
T |
4: 155,945,810 (GRCm39) |
C529S |
probably damaging |
Het |
Tlr12 |
T |
A |
4: 128,510,361 (GRCm39) |
M630L |
probably benign |
Het |
Tnfrsf10b |
T |
G |
14: 70,010,905 (GRCm39) |
D103E |
probably benign |
Het |
Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
Tppp |
A |
G |
13: 74,178,891 (GRCm39) |
T111A |
probably benign |
Het |
Trim12c |
T |
C |
7: 103,997,544 (GRCm39) |
Q4R |
probably benign |
Het |
Uncx |
T |
C |
5: 139,533,120 (GRCm39) |
L395P |
probably damaging |
Het |
Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
Usp32 |
A |
T |
11: 84,897,881 (GRCm39) |
Y1153* |
probably null |
Het |
Vmn2r6 |
T |
C |
3: 64,464,042 (GRCm39) |
E264G |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,461,050 (GRCm39) |
F792S |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,792,008 (GRCm39) |
I425V |
probably benign |
Het |
Vstm4 |
C |
T |
14: 32,585,712 (GRCm39) |
A93V |
probably benign |
Het |
Xrcc6 |
T |
A |
15: 81,909,885 (GRCm39) |
S97T |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,480,218 (GRCm39) |
C758R |
probably damaging |
Het |
|
Other mutations in Ttbk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
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'- AGGCTGCCAGATCCTTTTGG -3'
(R):5'- TCTCTATTCTTTTAAGGCTACGCAG -3'
Sequencing Primer
(F):5'- TTGCAATGCTCCTGTTGGCAG -3'
(R):5'- AGGCTACGCAGATATAAAGTTCTAG -3'
|
Posted On |
2015-04-06 |