Incidental Mutation 'R9372:Ttbk2'
ID |
709355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9372 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120603766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 325
(S325C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
AlphaFold |
Q3UVR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028740
AA Change: S325C
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: S325C
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: S256C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: S256C
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: S256C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: S256C
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 |
possibly damaging
Transcript: ENSMUST00000131389
AA Change: S221C
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100 AA Change: S221C
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 damaging
Transcript: ENSMUST00000143051
AA Change: S256C
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: S256C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Aass |
T |
C |
6: 23,078,856 (GRCm39) |
T719A |
probably damaging |
Het |
Abcb8 |
A |
G |
5: 24,605,114 (GRCm39) |
E100G |
probably benign |
Het |
Actr1b |
C |
T |
1: 36,741,561 (GRCm39) |
E104K |
probably damaging |
Het |
Atad5 |
T |
A |
11: 79,985,094 (GRCm39) |
S60R |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,895,610 (GRCm39) |
A842D |
probably benign |
Het |
Cacna2d2 |
G |
A |
9: 107,394,802 (GRCm39) |
E623K |
probably benign |
Het |
Cdk15 |
T |
C |
1: 59,370,142 (GRCm39) |
Y393H |
probably benign |
Het |
Ceacam12 |
C |
T |
7: 17,803,229 (GRCm39) |
R212C |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,481,267 (GRCm39) |
I338T |
possibly damaging |
Het |
Crcp |
A |
G |
5: 130,088,664 (GRCm39) |
D139G |
possibly damaging |
Het |
Crls1 |
T |
A |
2: 132,707,802 (GRCm39) |
Y290* |
probably null |
Het |
Dcun1d5 |
A |
G |
9: 7,206,780 (GRCm39) |
N206D |
probably damaging |
Het |
Dmtf1 |
A |
T |
5: 9,190,399 (GRCm39) |
V105E |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,543,474 (GRCm39) |
Y2232C |
probably benign |
Het |
Dnajc25 |
T |
A |
4: 59,003,394 (GRCm39) |
V55E |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,303,343 (GRCm39) |
M193V |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,221,489 (GRCm39) |
V662E |
probably damaging |
Het |
Enpp6 |
G |
A |
8: 47,506,627 (GRCm39) |
V144I |
possibly damaging |
Het |
Fip1l1 |
A |
G |
5: 74,707,463 (GRCm39) |
T204A |
possibly damaging |
Het |
Flvcr2 |
T |
C |
12: 85,793,795 (GRCm39) |
V57A |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,822,756 (GRCm39) |
I6163S |
possibly damaging |
Het |
Gipr |
T |
A |
7: 18,896,863 (GRCm39) |
M136L |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,748,746 (GRCm39) |
I674V |
probably benign |
Het |
Gtf2a1 |
C |
T |
12: 91,534,592 (GRCm39) |
V221I |
probably damaging |
Het |
Haus3 |
A |
T |
5: 34,321,002 (GRCm39) |
D481E |
probably benign |
Het |
Hinfp |
A |
C |
9: 44,209,083 (GRCm39) |
V345G |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,708,698 (GRCm39) |
K78* |
probably null |
Het |
Ighv1-31 |
T |
C |
12: 114,792,894 (GRCm39) |
Y114C |
probably damaging |
Het |
Ighv5-15 |
T |
A |
12: 113,790,357 (GRCm39) |
T88S |
probably damaging |
Het |
Ildr1 |
G |
A |
16: 36,542,721 (GRCm39) |
D418N |
probably damaging |
Het |
Ints10 |
C |
T |
8: 69,271,967 (GRCm39) |
T556I |
probably damaging |
Het |
Isoc1 |
G |
T |
18: 58,792,757 (GRCm39) |
R65L |
possibly damaging |
Het |
Itm2c |
C |
T |
1: 85,833,055 (GRCm39) |
R130C |
probably damaging |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Kif11 |
T |
C |
19: 37,399,892 (GRCm39) |
V793A |
probably benign |
Het |
Klrg1 |
A |
C |
6: 122,256,699 (GRCm39) |
V29G |
probably benign |
Het |
Lrch4 |
A |
G |
5: 137,631,953 (GRCm39) |
T114A |
possibly damaging |
Het |
Map3k3 |
C |
T |
11: 106,033,335 (GRCm39) |
T196M |
probably damaging |
Het |
Marchf1 |
C |
A |
8: 66,921,145 (GRCm39) |
T274N |
probably benign |
Het |
Nxpe5 |
A |
T |
5: 138,249,445 (GRCm39) |
T412S |
probably benign |
Het |
Or10q1 |
C |
T |
19: 13,727,069 (GRCm39) |
H200Y |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,258,960 (GRCm39) |
W502R |
probably damaging |
Het |
Pfdn5 |
T |
C |
15: 102,235,286 (GRCm39) |
|
probably null |
Het |
Pkn2 |
A |
T |
3: 142,535,018 (GRCm39) |
V232E |
probably damaging |
Het |
Ppfibp1 |
T |
C |
6: 146,898,307 (GRCm39) |
S88P |
probably damaging |
Het |
Prr23a4 |
A |
G |
9: 98,785,478 (GRCm39) |
I48V |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,045,706 (GRCm39) |
E2159K |
probably damaging |
Het |
Smyd3 |
T |
C |
1: 178,871,470 (GRCm39) |
E303G |
possibly damaging |
Het |
Snx13 |
T |
A |
12: 35,151,048 (GRCm39) |
N336K |
possibly damaging |
Het |
Src |
A |
G |
2: 157,311,808 (GRCm39) |
E512G |
possibly damaging |
Het |
Stard9 |
T |
A |
2: 120,495,420 (GRCm39) |
C98* |
probably null |
Het |
Tapbpl |
A |
G |
6: 125,203,672 (GRCm39) |
V336A |
probably benign |
Het |
Tbrg1 |
G |
A |
9: 37,563,945 (GRCm39) |
T230I |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmem132c |
G |
A |
5: 127,640,145 (GRCm39) |
G772D |
probably damaging |
Het |
Tmem219 |
C |
T |
7: 126,496,017 (GRCm39) |
G119S |
possibly damaging |
Het |
Ttc28 |
A |
T |
5: 111,331,073 (GRCm39) |
Y431F |
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,746 (GRCm39) |
M86K |
possibly damaging |
Het |
Vmn2r15 |
G |
A |
5: 109,441,953 (GRCm39) |
P160L |
possibly damaging |
Het |
Zfc3h1 |
A |
T |
10: 115,221,223 (GRCm39) |
S41C |
unknown |
Het |
Zfp260 |
C |
A |
7: 29,804,232 (GRCm39) |
T44K |
probably benign |
Het |
Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
A |
G |
17: 21,941,035 (GRCm39) |
N70S |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,299,708 (GRCm39) |
Y781* |
probably null |
Het |
Zfp800 |
A |
T |
6: 28,256,433 (GRCm39) |
S52T |
possibly 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 |
|
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 |
|
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'- GTTTGCACACATTCCACATCAC -3'
(R):5'- GCACATTTATTGCATAGCCTGTTTC -3'
Sequencing Primer
(F):5'- ACCAGCATCATGTTCATTTCAC -3'
(R):5'- GCATAGCCTGTTTCAATCTTGACAG -3'
|
Posted On |
2022-04-18 |