Incidental Mutation 'R7128:Ttbk2'
ID |
552437 |
Institutional Source |
Beutler Lab
|
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 # |
R7128 (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 120576569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 803
(I803L)
|
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: I803L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: I803L
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 benign
Transcript: ENSMUST00000057135
AA Change: I734L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: I734L
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: ENSMUST00000085840
AA Change: I734L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: I734L
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
|
SMART Domains |
Protein: ENSMUSP00000118905 Gene: ENSMUSG00000090100
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 benign
Transcript: ENSMUST00000143051
AA Change: I734L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: I734L
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: 99.0%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,347,985 (GRCm39) |
D25G |
probably benign |
Het |
Ak9 |
T |
C |
10: 41,300,713 (GRCm39) |
V1641A |
unknown |
Het |
Akirin2 |
T |
C |
4: 34,562,435 (GRCm39) |
I118T |
probably benign |
Het |
Aldh1l1 |
G |
T |
6: 90,540,361 (GRCm39) |
Q215H |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,326,971 (GRCm39) |
F495L |
possibly damaging |
Het |
Atg4a-ps |
T |
A |
3: 103,553,063 (GRCm39) |
R93* |
probably null |
Het |
Brd10 |
T |
C |
19: 29,693,881 (GRCm39) |
T1871A |
possibly damaging |
Het |
Catsper3 |
A |
G |
13: 55,946,662 (GRCm39) |
I120V |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,328,579 (GRCm39) |
Q12R |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,417,188 (GRCm39) |
F39Y |
probably damaging |
Het |
Chfr |
T |
C |
5: 110,291,502 (GRCm39) |
Y107H |
probably benign |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Defb4 |
T |
A |
8: 19,251,220 (GRCm39) |
I29K |
possibly damaging |
Het |
Dnah7c |
A |
G |
1: 46,566,645 (GRCm39) |
T619A |
probably benign |
Het |
Duxf1 |
T |
C |
10: 58,059,479 (GRCm39) |
Q425R |
unknown |
Het |
Emc3 |
A |
G |
6: 113,494,881 (GRCm39) |
L179P |
probably damaging |
Het |
Eno3 |
G |
C |
11: 70,549,430 (GRCm39) |
V84L |
possibly damaging |
Het |
Fam110a |
C |
T |
2: 151,812,642 (GRCm39) |
V43M |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,165,860 (GRCm39) |
L194* |
probably null |
Het |
Galnt14 |
T |
C |
17: 73,852,096 (GRCm39) |
T108A |
probably benign |
Het |
Glipr2 |
T |
C |
4: 43,968,601 (GRCm39) |
I51T |
probably benign |
Het |
Gm1527 |
C |
T |
3: 28,969,460 (GRCm39) |
S270F |
possibly damaging |
Het |
Gm3336 |
A |
G |
8: 71,171,203 (GRCm39) |
M1V |
probably null |
Het |
Gm4744 |
T |
C |
6: 40,927,310 (GRCm39) |
D15G |
|
Het |
Gm4924 |
G |
A |
10: 82,214,533 (GRCm39) |
C777Y |
unknown |
Het |
Gm5901 |
G |
A |
7: 105,027,408 (GRCm39) |
G306S |
probably damaging |
Het |
Gon4l |
T |
A |
3: 88,802,999 (GRCm39) |
N1203K |
possibly damaging |
Het |
Gpr161 |
A |
T |
1: 165,138,026 (GRCm39) |
Y204F |
possibly damaging |
Het |
Igsf10 |
T |
C |
3: 59,236,326 (GRCm39) |
E1285G |
probably benign |
Het |
Irx6 |
T |
C |
8: 93,403,994 (GRCm39) |
L187P |
probably damaging |
Het |
Itgb1bp1 |
A |
G |
12: 21,322,089 (GRCm39) |
Y117H |
probably benign |
Het |
Itln1 |
C |
A |
1: 171,358,143 (GRCm39) |
D202Y |
possibly damaging |
Het |
Kctd9 |
T |
C |
14: 67,975,972 (GRCm39) |
S242P |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,686,088 (GRCm39) |
H2143R |
probably benign |
Het |
Lynx1 |
G |
A |
15: 74,623,398 (GRCm39) |
R50* |
probably null |
Het |
Lypd11 |
C |
T |
7: 24,425,424 (GRCm39) |
|
probably null |
Het |
Map10 |
A |
G |
8: 126,398,592 (GRCm39) |
I662V |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,162,705 (GRCm39) |
L691P |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,554,300 (GRCm39) |
S3998P |
unknown |
Het |
Nalcn |
A |
T |
14: 123,831,914 (GRCm39) |
V120E |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,085,323 (GRCm39) |
S539P |
probably benign |
Het |
Olfml3 |
T |
C |
3: 103,644,484 (GRCm39) |
M62V |
probably benign |
Het |
Orm3 |
T |
C |
4: 63,276,062 (GRCm39) |
V158A |
probably benign |
Het |
Pakap |
T |
C |
4: 57,855,816 (GRCm39) |
S382P |
probably benign |
Het |
Pced1b |
A |
T |
15: 97,282,479 (GRCm39) |
K173* |
probably null |
Het |
Pdzd7 |
T |
C |
19: 45,016,388 (GRCm39) |
D911G |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,973,327 (GRCm39) |
D383G |
probably damaging |
Het |
Pm20d1 |
A |
G |
1: 131,725,292 (GRCm39) |
E46G |
probably benign |
Het |
Pyroxd2 |
A |
T |
19: 42,719,842 (GRCm39) |
S455T |
probably benign |
Het |
Rmnd5b |
T |
A |
11: 51,515,364 (GRCm39) |
I301F |
possibly damaging |
Het |
Rnf225 |
A |
G |
7: 12,661,911 (GRCm39) |
N30S |
probably benign |
Het |
Shisal2a |
G |
T |
4: 108,225,100 (GRCm39) |
T154K |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,105,721 (GRCm39) |
C573S |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,351,632 (GRCm39) |
E887G |
probably damaging |
Het |
Sp140 |
A |
T |
1: 85,547,846 (GRCm39) |
D191V |
possibly damaging |
Het |
Srf |
C |
T |
17: 46,866,372 (GRCm39) |
S128N |
possibly damaging |
Het |
Sult6b1 |
T |
C |
17: 79,202,070 (GRCm39) |
D144G |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
Syt10 |
A |
T |
15: 89,698,314 (GRCm39) |
D343E |
probably damaging |
Het |
Tgtp2 |
G |
A |
11: 48,950,135 (GRCm39) |
R146C |
possibly damaging |
Het |
Tmcc3 |
A |
T |
10: 94,266,496 (GRCm39) |
|
probably benign |
Het |
Tnfrsf1a |
A |
T |
6: 125,338,499 (GRCm39) |
T337S |
probably benign |
Het |
Tns1 |
A |
T |
1: 74,034,463 (GRCm39) |
I144N |
|
Het |
Trim11 |
A |
G |
11: 58,869,103 (GRCm39) |
E13G |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,789,137 (GRCm39) |
H569L |
possibly damaging |
Het |
Vmn1r21 |
G |
T |
6: 57,820,936 (GRCm39) |
N169K |
probably damaging |
Het |
Vmn2r60 |
C |
T |
7: 41,844,536 (GRCm39) |
T633I |
probably damaging |
Het |
Wt1 |
T |
C |
2: 104,957,670 (GRCm39) |
Y177H |
probably benign |
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 |
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'- AGACTTCAATACAGTGCTGCC -3'
(R):5'- CCTAGACCTTCTGTGGCATCAAC -3'
Sequencing Primer
(F):5'- AATACAGTGCTGCCCTTTACTTAAC -3'
(R):5'- CACAGTCAACTTCAGGAAGCTTTC -3'
|
Posted On |
2019-05-15 |