Incidental Mutation 'R7173:Ttbk2'
| ID |
558402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk2
|
| Ensembl Gene |
ENSMUSG00000090100 |
| Gene Name |
tau tubulin kinase 2 |
| Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
| MMRRC Submission |
045265-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7173 (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 T
at 120570592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 1187
(S1187Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
|
| AlphaFold |
Q3UVR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028740
AA Change: S1187Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: S1187Y
| 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: S1118Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: S1118Y
| 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: S1118Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: S1118Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,833,848 (GRCm39) |
V403I |
possibly damaging |
Het |
| Actn1 |
G |
A |
12: 80,224,033 (GRCm39) |
R475C |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,662,757 (GRCm39) |
L191P |
possibly damaging |
Het |
| Adam21 |
G |
T |
12: 81,606,008 (GRCm39) |
Q585K |
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,841,729 (GRCm39) |
V116A |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
| Alx4 |
G |
T |
2: 93,473,202 (GRCm39) |
G67C |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,976 (GRCm39) |
C1414S |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,805,550 (GRCm39) |
D170G |
probably damaging |
Het |
| Arpc2 |
T |
A |
1: 74,303,531 (GRCm39) |
M266K |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,621,837 (GRCm39) |
N794I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,396 (GRCm39) |
L340P |
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,529,217 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
A |
T |
5: 120,772,279 (GRCm39) |
Y8N |
probably damaging |
Het |
| Cfhr4 |
C |
A |
1: 139,659,415 (GRCm39) |
E705* |
probably null |
Het |
| Cln3 |
T |
C |
7: 126,178,589 (GRCm39) |
T173A |
probably damaging |
Het |
| Cxcl3 |
A |
T |
5: 90,934,008 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
G |
C |
19: 39,159,401 (GRCm39) |
C284S |
probably benign |
Het |
| Dnajc22 |
T |
C |
15: 98,999,187 (GRCm39) |
V124A |
probably benign |
Het |
| Dync1h1 |
C |
G |
12: 110,568,173 (GRCm39) |
D45E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,554,235 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,649,945 (GRCm39) |
V827G |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,327,154 (GRCm39) |
I574T |
probably benign |
Het |
| Ext2 |
A |
T |
2: 93,643,957 (GRCm39) |
I108N |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,843,531 (GRCm39) |
I904M |
unknown |
Het |
| Fmnl2 |
T |
C |
2: 53,004,202 (GRCm39) |
I638T |
unknown |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
| Fras1 |
G |
T |
5: 96,925,937 (GRCm39) |
A3714S |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,696 (GRCm39) |
R479S |
possibly damaging |
Het |
| Gaa |
C |
T |
11: 119,169,817 (GRCm39) |
L624F |
probably damaging |
Het |
| Galnt2 |
G |
A |
8: 125,032,292 (GRCm39) |
V86I |
probably benign |
Het |
| Gdap1l1 |
T |
G |
2: 163,280,608 (GRCm39) |
V48G |
probably damaging |
Het |
| Gm10549 |
A |
G |
18: 33,597,462 (GRCm39) |
T83A |
unknown |
Het |
| Gm11437 |
T |
G |
11: 84,055,374 (GRCm39) |
T81P |
probably benign |
Het |
| Gm16253 |
T |
C |
3: 96,487,979 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
A |
T |
10: 51,504,595 (GRCm39) |
M83K |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,767,587 (GRCm39) |
D31G |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,167,013 (GRCm39) |
L108P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,853,575 (GRCm39) |
L3689Q |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,290 (GRCm39) |
M407V |
probably benign |
Het |
| Irgq |
A |
T |
7: 24,233,185 (GRCm39) |
E342V |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,109,974 (GRCm39) |
I593N |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,701,870 (GRCm39) |
G101C |
probably damaging |
Het |
| Jakmip1 |
G |
A |
5: 37,248,708 (GRCm39) |
G123S |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,406,908 (GRCm39) |
I580N |
probably damaging |
Het |
| Kmt2e |
A |
T |
5: 23,669,855 (GRCm39) |
Y114F |
probably damaging |
Het |
| Ly6g5b |
C |
A |
17: 35,333,680 (GRCm39) |
C99F |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,271,758 (GRCm39) |
P629S |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,582,862 (GRCm39) |
F476L |
probably damaging |
Het |
| Mup18 |
T |
C |
4: 61,590,199 (GRCm39) |
T110A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,257,603 (GRCm39) |
D407G |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,190 (GRCm39) |
R359C |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,510 (GRCm39) |
T185A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,955 (GRCm39) |
C130Y |
possibly damaging |
Het |
| Panx3 |
A |
T |
9: 37,572,596 (GRCm39) |
M318K |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,999,777 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,455,241 (GRCm39) |
Y1063C |
possibly damaging |
Het |
| Psme3ip1 |
A |
T |
8: 95,315,486 (GRCm39) |
F15L |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,553,195 (GRCm39) |
R129H |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,349,633 (GRCm39) |
Y7C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,613,253 (GRCm39) |
N349S |
possibly damaging |
Het |
| Slc10a1 |
T |
G |
12: 81,002,750 (GRCm39) |
E296A |
probably damaging |
Het |
| Slc2a9 |
A |
T |
5: 38,610,214 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,873,221 (GRCm39) |
M138K |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,924,233 (GRCm39) |
T175A |
probably benign |
Het |
| Tbrg4 |
T |
C |
11: 6,570,810 (GRCm39) |
T221A |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,932,378 (GRCm39) |
T1739A |
probably damaging |
Het |
| Tmed5 |
T |
C |
5: 108,280,187 (GRCm39) |
D35G |
probably benign |
Het |
| Tnfsf15 |
A |
T |
4: 63,647,889 (GRCm39) |
S250R |
probably damaging |
Het |
| Tnpo2 |
G |
T |
8: 85,781,707 (GRCm39) |
V830F |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,625,029 (GRCm39) |
T15183M |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,259 (GRCm39) |
|
probably null |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,278 (GRCm39) |
I279M |
possibly damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,250 (GRCm39) |
Y251N |
possibly damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,482 (GRCm39) |
V184I |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,255 (GRCm39) |
M610K |
probably benign |
Het |
| Xrn2 |
C |
T |
2: 146,884,013 (GRCm39) |
P591S |
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 |
|
|
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 |
|
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'- AACTCCTCTGGTCATGGTGG -3'
(R):5'- GCAGATGTCAAACTCAGCATG -3'
Sequencing Primer
(F):5'- GTCATGGTGGGGCCGTC -3'
(R):5'- GGGAGTAGTAACTCTGACTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation