Incidental Mutation 'R7013:Ttbk2'
| ID |
545113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttbk2
|
| Ensembl Gene |
ENSMUSG00000090100 |
| Gene Name |
tau tubulin kinase 2 |
| Synonyms |
2610507N02Rik, B930008N24Rik, TTK |
| MMRRC Submission |
045114-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120563297-120681085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120576265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 904
(N904S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000131389]
[ENSMUST00000143051]
|
| AlphaFold |
Q3UVR3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028740
AA Change: N904S
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
AA Change: N904S
| 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: N835S
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
AA Change: N835S
| 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: N835S
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
AA Change: N835S
| 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 |
possibly damaging
Transcript: ENSMUST00000143051
AA Change: N835S
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121996
Gene: ENSMUSG00000090100
AA Change: N835S
| 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 |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,618,345 (GRCm39) |
I213V |
probably null |
Het |
| Abcc4 |
A |
T |
14: 118,763,755 (GRCm39) |
C952S |
probably benign |
Het |
| Adhfe1 |
T |
C |
1: 9,620,816 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
A |
12: 8,060,080 (GRCm39) |
L2854* |
probably null |
Het |
| Arhgap5 |
T |
A |
12: 52,565,109 (GRCm39) |
N693K |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,933,649 (GRCm39) |
V508A |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 70,000,214 (GRCm39) |
E288G |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,806,270 (GRCm39) |
S455P |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,857,392 (GRCm39) |
L63Q |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,426,036 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,780 (GRCm39) |
D528G |
unknown |
Het |
| Dact2 |
T |
C |
17: 14,423,796 (GRCm39) |
T66A |
probably benign |
Het |
| Dkk2 |
T |
C |
3: 131,880,760 (GRCm39) |
L135P |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,278,129 (GRCm39) |
N381S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,591,578 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,114,340 (GRCm39) |
P1240S |
probably damaging |
Het |
| Esyt1 |
A |
T |
10: 128,361,520 (GRCm39) |
V58E |
probably damaging |
Het |
| Exo1 |
G |
T |
1: 175,721,338 (GRCm39) |
A326S |
probably damaging |
Het |
| Fam20b |
A |
G |
1: 156,518,135 (GRCm39) |
S220P |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,745,817 (GRCm39) |
T402I |
probably benign |
Het |
| Galnt10 |
A |
T |
11: 57,656,410 (GRCm39) |
D198V |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,483,108 (GRCm39) |
E604D |
probably benign |
Het |
| Il20rb |
A |
G |
9: 100,343,481 (GRCm39) |
Y258H |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,285,776 (GRCm39) |
S409R |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,131,425 (GRCm39) |
V97F |
possibly damaging |
Het |
| Lbhd1 |
T |
C |
19: 8,861,523 (GRCm39) |
S52P |
probably damaging |
Het |
| Lman2l |
A |
G |
1: 36,482,599 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,788,625 (GRCm39) |
M493I |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,188,774 (GRCm39) |
D132G |
probably damaging |
Het |
| Nlrp1a |
G |
A |
11: 71,014,378 (GRCm39) |
R291W |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,247 (GRCm39) |
Y259* |
probably null |
Het |
| Or4a79 |
T |
A |
2: 89,551,730 (GRCm39) |
I242F |
probably benign |
Het |
| Or4b13 |
C |
T |
2: 90,082,441 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,308 (GRCm39) |
A37V |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,656 (GRCm39) |
I37F |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,738,787 (GRCm39) |
V158A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,854 (GRCm39) |
W26C |
unknown |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,674 (GRCm39) |
N376D |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 116,072,659 (GRCm39) |
I207N |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,402 (GRCm39) |
V698A |
probably benign |
Het |
| Rnf212 |
A |
T |
5: 108,877,826 (GRCm39) |
M222K |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,839,365 (GRCm39) |
K121E |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,655,296 (GRCm39) |
V335D |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,215,222 (GRCm39) |
C251* |
probably null |
Het |
| Tmprss11d |
C |
A |
5: 86,474,432 (GRCm39) |
R37L |
probably damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,714 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r66 |
T |
C |
7: 10,008,683 (GRCm39) |
R117G |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,362,113 (GRCm39) |
D1025G |
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 |
|
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 |
|
|
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'- GCCTTGGCAAGCTTTCACTC -3'
(R):5'- GACCCTCCTGACCATAATAGATTAGC -3'
Sequencing Primer
(F):5'- GGCAAGCTTTCACTCTGAATAC -3'
(R):5'- AGAATTTGAACATCTCCCTGGAG -3'
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| Posted On |
2019-05-13 |
Incidental Mutation