Incidental Mutation 'R6933:Taok1'
ID |
540173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taok1
|
Ensembl Gene |
ENSMUSG00000017291 |
Gene Name |
TAO kinase 1 |
Synonyms |
2810468K05Rik, D130018F14Rik |
MMRRC Submission |
045048-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.455)
|
Stock # |
R6933 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77446479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 417
(S417T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055470
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017435]
[ENSMUST00000058496]
|
AlphaFold |
Q5F2E8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017435
AA Change: S417T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000017435 Gene: ENSMUSG00000017291 AA Change: S417T
Domain | Start | End | E-Value | Type |
S_TKc
|
28 |
281 |
3.26e-87 |
SMART |
low complexity region
|
327 |
335 |
N/A |
INTRINSIC |
low complexity region
|
350 |
370 |
N/A |
INTRINSIC |
coiled coil region
|
458 |
651 |
N/A |
INTRINSIC |
coiled coil region
|
792 |
878 |
N/A |
INTRINSIC |
low complexity region
|
914 |
930 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058496
AA Change: S417T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000055470 Gene: ENSMUSG00000017291 AA Change: S417T
Domain | Start | End | E-Value | Type |
S_TKc
|
28 |
281 |
3.26e-87 |
SMART |
low complexity region
|
327 |
335 |
N/A |
INTRINSIC |
low complexity region
|
350 |
370 |
N/A |
INTRINSIC |
coiled coil region
|
458 |
651 |
N/A |
INTRINSIC |
coiled coil region
|
792 |
878 |
N/A |
INTRINSIC |
low complexity region
|
914 |
930 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0592 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
Validation Efficiency |
93% (41/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
Ccr2 |
T |
G |
9: 123,906,161 (GRCm39) |
L147R |
probably damaging |
Het |
Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
Other mutations in Taok1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01598:Taok1
|
APN |
11 |
77,462,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01629:Taok1
|
APN |
11 |
77,429,030 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02198:Taok1
|
APN |
11 |
77,466,503 (GRCm39) |
splice site |
probably benign |
|
IGL02392:Taok1
|
APN |
11 |
77,440,178 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02415:Taok1
|
APN |
11 |
77,431,066 (GRCm39) |
unclassified |
probably benign |
|
IGL02428:Taok1
|
APN |
11 |
77,440,103 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02972:Taok1
|
APN |
11 |
77,450,584 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03200:Taok1
|
APN |
11 |
77,466,478 (GRCm39) |
nonsense |
probably null |
|
IGL03203:Taok1
|
APN |
11 |
77,430,911 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03292:Taok1
|
APN |
11 |
77,430,962 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03351:Taok1
|
APN |
11 |
77,451,154 (GRCm39) |
missense |
probably damaging |
0.96 |
R7569_taok1_653
|
UTSW |
11 |
77,446,440 (GRCm39) |
missense |
probably benign |
0.06 |
R0070:Taok1
|
UTSW |
11 |
77,444,543 (GRCm39) |
missense |
probably benign |
|
R0497:Taok1
|
UTSW |
11 |
77,464,630 (GRCm39) |
missense |
probably damaging |
0.97 |
R0535:Taok1
|
UTSW |
11 |
77,444,530 (GRCm39) |
missense |
probably benign |
0.00 |
R0558:Taok1
|
UTSW |
11 |
77,450,670 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0653:Taok1
|
UTSW |
11 |
77,469,550 (GRCm39) |
critical splice donor site |
probably null |
|
R1249:Taok1
|
UTSW |
11 |
77,462,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Taok1
|
UTSW |
11 |
77,440,190 (GRCm39) |
missense |
probably benign |
0.00 |
R1597:Taok1
|
UTSW |
11 |
77,470,626 (GRCm39) |
missense |
probably benign |
0.31 |
R2112:Taok1
|
UTSW |
11 |
77,462,472 (GRCm39) |
missense |
probably benign |
0.01 |
R3716:Taok1
|
UTSW |
11 |
77,432,636 (GRCm39) |
missense |
probably benign |
0.09 |
R4013:Taok1
|
UTSW |
11 |
77,450,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4058:Taok1
|
UTSW |
11 |
77,440,264 (GRCm39) |
missense |
probably benign |
0.05 |
R4831:Taok1
|
UTSW |
11 |
77,444,500 (GRCm39) |
missense |
probably null |
0.34 |
R5036:Taok1
|
UTSW |
11 |
77,440,157 (GRCm39) |
missense |
probably benign |
0.01 |
R5917:Taok1
|
UTSW |
11 |
77,451,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R6271:Taok1
|
UTSW |
11 |
77,464,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6286:Taok1
|
UTSW |
11 |
77,444,599 (GRCm39) |
missense |
probably benign |
0.00 |
R6860:Taok1
|
UTSW |
11 |
77,432,627 (GRCm39) |
missense |
probably benign |
0.01 |
R7139:Taok1
|
UTSW |
11 |
77,462,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R7143:Taok1
|
UTSW |
11 |
77,428,814 (GRCm39) |
missense |
probably benign |
|
R7305:Taok1
|
UTSW |
11 |
77,432,500 (GRCm39) |
nonsense |
probably null |
|
R7340:Taok1
|
UTSW |
11 |
77,470,643 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7508:Taok1
|
UTSW |
11 |
77,436,152 (GRCm39) |
missense |
probably damaging |
0.97 |
R7569:Taok1
|
UTSW |
11 |
77,446,440 (GRCm39) |
missense |
probably benign |
0.06 |
R7753:Taok1
|
UTSW |
11 |
77,428,725 (GRCm39) |
missense |
probably benign |
0.29 |
R8064:Taok1
|
UTSW |
11 |
77,440,130 (GRCm39) |
nonsense |
probably null |
|
R8130:Taok1
|
UTSW |
11 |
77,470,659 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8332:Taok1
|
UTSW |
11 |
77,432,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8768:Taok1
|
UTSW |
11 |
77,444,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775:Taok1
|
UTSW |
11 |
77,470,632 (GRCm39) |
missense |
probably benign |
0.42 |
R8775-TAIL:Taok1
|
UTSW |
11 |
77,470,632 (GRCm39) |
missense |
probably benign |
0.42 |
Z1176:Taok1
|
UTSW |
11 |
77,450,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGCTTTCTTCAAATAGGGAA -3'
(R):5'- AGCTTCTATTTCTGCTTTGTTGAATT -3'
Sequencing Primer
(F):5'- GAACTGAGTGATACGTACCAG -3'
(R):5'- GTCTTTTCCTTGAATGCTCAAA -3'
|
Posted On |
2018-11-06 |