Incidental Mutation 'R7475:Ttbk2'
ID |
579394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttbk2
|
Ensembl Gene |
ENSMUSG00000090100 |
Gene Name |
tau tubulin kinase 2 |
Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
MMRRC Submission |
045549-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7475 (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 T
at 120579121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 667
(I667N)
|
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: I667N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000028740 Gene: ENSMUSG00000090100 AA Change: I667N
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: I598N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000055032 Gene: ENSMUSG00000090100 AA Change: I598N
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: I598N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000083001 Gene: ENSMUSG00000090100 AA Change: I598N
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: I598N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000121996 Gene: ENSMUSG00000090100 AA Change: I598N
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: 98.9%
|
Validation Efficiency |
99% (77/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,218,739 (GRCm39) |
N214K |
probably benign |
Het |
Abcf1 |
A |
G |
17: 36,274,459 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
T |
15: 10,409,623 (GRCm39) |
M508L |
probably benign |
Het |
Akr1c21 |
A |
T |
13: 4,626,318 (GRCm39) |
Y114F |
probably benign |
Het |
Amz1 |
T |
C |
5: 140,729,941 (GRCm39) |
|
probably null |
Het |
Ank1 |
G |
T |
8: 23,622,646 (GRCm39) |
A1732S |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,687,805 (GRCm39) |
S50P |
possibly damaging |
Het |
AW551984 |
A |
G |
9: 39,509,236 (GRCm39) |
S302P |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,296 (GRCm39) |
Y102F |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,780,322 (GRCm39) |
|
probably null |
Het |
Dedd |
C |
A |
1: 171,167,881 (GRCm39) |
P185Q |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,845,395 (GRCm39) |
V283E |
unknown |
Het |
Fat2 |
C |
A |
11: 55,194,479 (GRCm39) |
V1187F |
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fcgbp |
C |
T |
7: 27,802,401 (GRCm39) |
T1443I |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,814,801 (GRCm39) |
D279G |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
Gm49368 |
A |
T |
7: 127,707,154 (GRCm39) |
T661S |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,513,330 (GRCm39) |
T260P |
probably damaging |
Het |
Gtf2ird2 |
T |
A |
5: 134,230,267 (GRCm39) |
D195E |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,496,196 (GRCm39) |
|
probably null |
Het |
Ifngr2 |
G |
A |
16: 91,354,797 (GRCm39) |
C32Y |
unknown |
Het |
Ikzf5 |
A |
T |
7: 130,993,788 (GRCm39) |
C280S |
probably benign |
Het |
Ints9 |
G |
T |
14: 65,263,914 (GRCm39) |
E395D |
probably null |
Het |
Isoc2b |
T |
C |
7: 4,854,084 (GRCm39) |
D96G |
probably benign |
Het |
Jmjd1c |
T |
G |
10: 67,061,092 (GRCm39) |
S967R |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,327,338 (GRCm39) |
K42N |
probably benign |
Het |
Kiz |
T |
C |
2: 146,733,006 (GRCm39) |
V394A |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,918,027 (GRCm39) |
H1795L |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,790,602 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
C |
A |
18: 77,500,001 (GRCm39) |
D1690E |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,234,588 (GRCm39) |
D1121G |
|
Het |
Map3k2 |
T |
C |
18: 32,333,015 (GRCm39) |
V63A |
possibly damaging |
Het |
Mcc |
G |
T |
18: 44,609,303 (GRCm39) |
A499D |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,400 (GRCm39) |
I232F |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,700,756 (GRCm39) |
K92R |
probably benign |
Het |
Mff |
T |
A |
1: 82,723,159 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,695 (GRCm39) |
Y77F |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,734,446 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
A |
G |
17: 66,394,532 (GRCm39) |
V111A |
possibly damaging |
Het |
Nkd2 |
T |
C |
13: 73,973,861 (GRCm39) |
E99G |
probably damaging |
Het |
Nlk |
C |
A |
11: 78,474,225 (GRCm39) |
G358V |
probably damaging |
Het |
Nnmt |
A |
T |
9: 48,503,532 (GRCm39) |
C165S |
probably damaging |
Het |
Nxpe4 |
T |
A |
9: 48,304,640 (GRCm39) |
C242* |
probably null |
Het |
Oas1b |
A |
T |
5: 120,955,705 (GRCm39) |
N162I |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,554 (GRCm39) |
I148V |
probably benign |
Het |
Otog |
A |
G |
7: 45,916,700 (GRCm39) |
N879S |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,923 (GRCm39) |
Y612N |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,368,581 (GRCm39) |
Q800* |
probably null |
Het |
Pkn3 |
T |
C |
2: 29,977,122 (GRCm39) |
S621P |
probably benign |
Het |
Polr3c |
T |
C |
3: 96,622,501 (GRCm39) |
I385V |
probably benign |
Het |
Ppp1r21 |
G |
T |
17: 88,863,031 (GRCm39) |
G257W |
probably benign |
Het |
Prkn |
A |
G |
17: 11,653,501 (GRCm39) |
D199G |
probably benign |
Het |
Pxylp1 |
C |
T |
9: 96,738,420 (GRCm39) |
|
probably null |
Het |
Rasgrp1 |
T |
C |
2: 117,116,589 (GRCm39) |
T613A |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,336,674 (GRCm39) |
V387I |
probably benign |
Het |
Rxfp2 |
T |
A |
5: 149,973,046 (GRCm39) |
Y174N |
possibly damaging |
Het |
Sec24a |
T |
C |
11: 51,604,379 (GRCm39) |
M746V |
probably damaging |
Het |
Sema4f |
T |
A |
6: 82,891,355 (GRCm39) |
E571D |
possibly damaging |
Het |
Septin3 |
T |
C |
15: 82,170,657 (GRCm39) |
V217A |
probably benign |
Het |
Serpinb1b |
A |
C |
13: 33,277,548 (GRCm39) |
K260N |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,476,500 (GRCm39) |
T645A |
possibly damaging |
Het |
Sobp |
C |
T |
10: 42,897,830 (GRCm39) |
R585Q |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,082,281 (GRCm39) |
L559Q |
possibly damaging |
Het |
Srxn1 |
C |
T |
2: 151,947,573 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,794 (GRCm39) |
R890Q |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,518,591 (GRCm39) |
D505G |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,972,087 (GRCm39) |
I653K |
probably damaging |
Het |
Tnks |
C |
T |
8: 35,298,866 (GRCm39) |
E1296K |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Usp46 |
T |
A |
5: 74,189,598 (GRCm39) |
K109* |
probably null |
Het |
Vmn1r191 |
A |
G |
13: 22,362,942 (GRCm39) |
C271R |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,673,200 (GRCm39) |
S55P |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,351,867 (GRCm39) |
S158P |
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,640,664 (GRCm39) |
C303G |
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 |
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'- CCATTTCTTACCGCAGTCAGG -3'
(R):5'- GCTGTTAACTTAAGCTCTTGCAAAC -3'
Sequencing Primer
(F):5'- AGTCAGGGGTCCTTCTGC -3'
(R):5'- CTCTTGCAAACAGGAGGTTGATTCC -3'
|
Posted On |
2019-10-07 |