Incidental Mutation 'IGL00484:Ttbk2'
ID |
7069 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00484
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 120604367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 210
(W210*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028740
AA Change: W279*
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: W279*
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 null
Transcript: ENSMUST00000057135
AA Change: W210*
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: W210*
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 null
Transcript: ENSMUST00000085840
AA Change: W210*
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: W210*
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 null
Transcript: ENSMUST00000131389
AA Change: W175*
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: W175*
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000143051
AA Change: W210*
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: W210*
Domain | Start | End | E-Value | Type |
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
A |
G |
7: 139,455,860 (GRCm39) |
Q496R |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,416,220 (GRCm39) |
S1151T |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,504,328 (GRCm39) |
K330R |
probably benign |
Het |
Anln |
A |
T |
9: 22,272,120 (GRCm39) |
Y666* |
probably null |
Het |
Atp1a2 |
A |
G |
1: 172,103,569 (GRCm39) |
W984R |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,361,998 (GRCm39) |
|
probably benign |
Het |
Casc3 |
A |
G |
11: 98,714,028 (GRCm39) |
E420G |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,833,249 (GRCm39) |
D1724N |
probably benign |
Het |
Dhx15 |
T |
G |
5: 52,324,154 (GRCm39) |
E379D |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,748,260 (GRCm39) |
|
probably benign |
Het |
Exph5 |
C |
T |
9: 53,288,006 (GRCm39) |
Q1696* |
probably null |
Het |
Fkbp6 |
C |
A |
5: 135,368,802 (GRCm39) |
A213S |
possibly damaging |
Het |
Fndc4 |
A |
G |
5: 31,450,840 (GRCm39) |
|
probably benign |
Het |
Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
Glmp |
T |
A |
3: 88,233,169 (GRCm39) |
|
probably null |
Het |
H2ac22 |
G |
T |
13: 21,971,091 (GRCm39) |
R100S |
probably benign |
Het |
Hapstr1 |
T |
C |
16: 8,649,175 (GRCm39) |
|
probably benign |
Het |
Ighv1-19 |
G |
A |
12: 114,672,329 (GRCm39) |
T97I |
probably benign |
Het |
Kdm6b |
T |
C |
11: 69,297,132 (GRCm39) |
S407G |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,000,873 (GRCm39) |
Y2231C |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,884,188 (GRCm39) |
S2999T |
probably benign |
Het |
Lztr1 |
T |
C |
16: 17,335,314 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
T |
C |
5: 65,964,867 (GRCm39) |
V972A |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,128 (GRCm39) |
S1725R |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,638,272 (GRCm39) |
V396A |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,191,737 (GRCm39) |
Q1074R |
probably damaging |
Het |
Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
Peli1 |
T |
A |
11: 21,096,952 (GRCm39) |
V114E |
probably damaging |
Het |
Phf20l1 |
T |
G |
15: 66,487,482 (GRCm39) |
|
probably benign |
Het |
Pik3r1 |
A |
C |
13: 101,838,255 (GRCm39) |
I267S |
probably benign |
Het |
Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
G |
16: 4,905,816 (GRCm39) |
I1493T |
probably benign |
Het |
Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
Pramel28 |
G |
A |
4: 143,693,184 (GRCm39) |
|
probably benign |
Het |
Prg3 |
A |
G |
2: 84,819,091 (GRCm39) |
I6V |
probably benign |
Het |
Ptprg |
T |
C |
14: 12,215,220 (GRCm38) |
V1069A |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 157,001,745 (GRCm39) |
|
probably null |
Het |
Slc36a2 |
A |
T |
11: 55,053,614 (GRCm39) |
Y341* |
probably null |
Het |
Snapc3 |
A |
G |
4: 83,354,633 (GRCm39) |
I215V |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,037,492 (GRCm39) |
S1475T |
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,024,141 (GRCm39) |
D414E |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,623,520 (GRCm39) |
T468A |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,213,105 (GRCm39) |
T310A |
probably benign |
Het |
Tgfbr2 |
T |
A |
9: 115,987,357 (GRCm39) |
I51F |
probably benign |
Het |
Trip11 |
A |
T |
12: 101,851,570 (GRCm39) |
C546* |
probably null |
Het |
Upk1b |
T |
G |
16: 38,600,378 (GRCm39) |
N201H |
possibly damaging |
Het |
Uqcc5 |
T |
A |
14: 30,810,879 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
T |
1: 188,514,710 (GRCm39) |
T3180S |
probably benign |
Het |
Vps13d |
T |
G |
4: 144,853,145 (GRCm39) |
Q2323P |
probably benign |
Het |
Zfp810 |
A |
T |
9: 22,189,605 (GRCm39) |
Y434* |
probably null |
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 |
|
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 |
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 |
|
|
Posted On |
2012-04-20 |