Incidental Mutation 'R8529:Ttbk2'
| ID |
658924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk2
|
| Ensembl Gene |
ENSMUSG00000090100 |
| Gene Name |
tau tubulin kinase 2 |
| Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
| MMRRC Submission |
068499-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120604338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 220
(V220G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
| AlphaFold |
Q3UVR3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028740
AA Change: V289G
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: V289G
| 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 |
possibly damaging
Transcript: ENSMUST00000057135
AA Change: V220G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: V220G
| 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: ENSMUST00000085840
AA Change: V220G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: V220G
| 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 benign
Transcript: ENSMUST00000131389
AA Change: V185G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118905
Gene: ENSMUSG00000090100
AA Change: V185G
| 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 |
possibly damaging
Transcript: ENSMUST00000143051
AA Change: V220G
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: V220G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,970,704 (GRCm39) |
Y173C |
probably benign |
Het |
| Ankrd55 |
A |
T |
13: 112,480,670 (GRCm39) |
T192S |
probably benign |
Het |
| Apob |
A |
T |
12: 8,057,353 (GRCm39) |
H1912L |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,796 (GRCm39) |
S82P |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,813,238 (GRCm39) |
D289V |
probably benign |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,376,984 (GRCm39) |
K1423N |
probably damaging |
Het |
| Dgat1 |
T |
A |
15: 76,387,237 (GRCm39) |
Y350F |
probably damaging |
Het |
| Dhx36 |
TCCGCCGCCGCCGCCGC |
TCCGCCGCCGCCGC |
3: 62,414,277 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,611,682 (GRCm39) |
D86G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,867,102 (GRCm39) |
Y1014C |
unknown |
Het |
| Erbb3 |
A |
G |
10: 128,419,069 (GRCm39) |
V264A |
probably damaging |
Het |
| Fam149b |
T |
A |
14: 20,408,370 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
G |
13: 31,992,520 (GRCm39) |
S444G |
unknown |
Het |
| Gm2042 |
G |
A |
12: 87,926,856 (GRCm39) |
S391N |
possibly damaging |
Het |
| Gnb3 |
A |
T |
6: 124,814,633 (GRCm39) |
N88K |
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,188,684 (GRCm39) |
V157D |
possibly damaging |
Het |
| Il27 |
A |
T |
7: 126,191,977 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,464,926 (GRCm39) |
E225G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,231,051 (GRCm39) |
R1167C |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,330,986 (GRCm39) |
I1690K |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,348,373 (GRCm39) |
E2774G |
unknown |
Het |
| Lyz2 |
A |
T |
10: 117,116,568 (GRCm39) |
N93K |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,315,688 (GRCm39) |
|
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,311,832 (GRCm39) |
F522L |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,120,154 (GRCm39) |
I1626V |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,689,192 (GRCm39) |
S362T |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,799,613 (GRCm39) |
P972L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,109 (GRCm39) |
Y255* |
probably null |
Het |
| Or13p8 |
A |
T |
4: 118,583,770 (GRCm39) |
T109S |
probably benign |
Het |
| Or8a1 |
A |
T |
9: 37,642,252 (GRCm39) |
V9E |
probably damaging |
Het |
| Potefam3b |
A |
G |
8: 21,159,174 (GRCm39) |
D176G |
possibly damaging |
Het |
| Prdm5 |
C |
T |
6: 65,878,829 (GRCm39) |
R128C |
probably damaging |
Het |
| Prom1 |
A |
T |
5: 44,170,369 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
T |
A |
1: 162,536,663 (GRCm39) |
|
probably benign |
Het |
| Prss3b |
T |
A |
6: 41,009,369 (GRCm39) |
Y155F |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,047,262 (GRCm39) |
T322A |
probably damaging |
Het |
| Reg3d |
C |
G |
6: 78,353,382 (GRCm39) |
G154R |
probably null |
Het |
| Rsf1 |
A |
G |
7: 97,320,074 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,769,509 (GRCm39) |
T2724S |
possibly damaging |
Het |
| Sec63 |
A |
G |
10: 42,665,379 (GRCm39) |
Y103C |
probably damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,543 (GRCm39) |
D245V |
probably benign |
Het |
| Slc22a28 |
G |
A |
19: 8,040,778 (GRCm39) |
T491I |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,946,517 (GRCm39) |
N484S |
possibly damaging |
Het |
| Slc44a3 |
G |
T |
3: 121,319,334 (GRCm39) |
L136I |
probably benign |
Het |
| Tff3 |
A |
G |
17: 31,348,460 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
T |
A |
1: 44,022,300 (GRCm39) |
D899E |
probably benign |
Het |
| Tsbp1 |
G |
T |
17: 34,679,143 (GRCm39) |
C302F |
possibly damaging |
Het |
| Tsen54 |
G |
T |
11: 115,711,386 (GRCm39) |
D268Y |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,223,513 (GRCm39) |
V592A |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,983,037 (GRCm39) |
Q14L |
probably damaging |
Het |
| Vldlr |
T |
A |
19: 27,207,656 (GRCm39) |
L48Q |
probably benign |
Het |
| Zbed6 |
T |
C |
1: 133,584,706 (GRCm39) |
Y877C |
probably benign |
Het |
| Zp3 |
C |
A |
5: 136,016,119 (GRCm39) |
T282N |
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 |
|
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 |
|
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'- CCCCAAGAGCTCTTTAAACTGGG -3'
(R):5'- TGCAGACATACAGATGTTTACCAG -3'
Sequencing Primer
(F):5'- CCAAGAGCTCTTTAAACTGGGTCTAC -3'
(R):5'- CAGATGTTTACCAGATGATTTATGGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation