Incidental Mutation 'IGL02392:Taok1'
ID |
294268 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Taok1
|
Ensembl Gene |
ENSMUSG00000017291 |
Gene Name |
TAO kinase 1 |
Synonyms |
2810468K05Rik, D130018F14Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.455)
|
Stock # |
IGL02392
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77440178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 610
(Y610H)
|
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: Y610H
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000017435 Gene: ENSMUSG00000017291 AA Change: Y610H
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: Y610H
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000055470 Gene: ENSMUSG00000017291 AA Change: Y610H
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,133,997 (GRCm39) |
N8S |
probably benign |
Het |
Cdh8 |
G |
A |
8: 99,757,387 (GRCm39) |
T737M |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,711,920 (GRCm39) |
|
probably benign |
Het |
Cenph |
T |
A |
13: 100,909,269 (GRCm39) |
Q46L |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,200,277 (GRCm39) |
C1395R |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,037,025 (GRCm39) |
|
probably benign |
Het |
Dolk |
T |
C |
2: 30,175,740 (GRCm39) |
N102D |
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Farp2 |
G |
A |
1: 93,505,372 (GRCm39) |
R368Q |
probably damaging |
Het |
Fermt3 |
A |
T |
19: 6,996,183 (GRCm39) |
M4K |
probably benign |
Het |
Fndc8 |
A |
C |
11: 82,789,429 (GRCm39) |
T196P |
probably damaging |
Het |
Galc |
G |
A |
12: 98,173,672 (GRCm39) |
T630I |
probably damaging |
Het |
Gm21970 |
T |
G |
16: 91,211,545 (GRCm39) |
S128A |
possibly damaging |
Het |
Gpr146 |
T |
C |
5: 139,378,533 (GRCm39) |
S112P |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,764,276 (GRCm39) |
S51P |
probably damaging |
Het |
Htra2 |
G |
T |
6: 83,031,280 (GRCm39) |
T43N |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,799,445 (GRCm39) |
Y70C |
possibly damaging |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mtdh |
A |
T |
15: 34,099,723 (GRCm39) |
N158Y |
probably damaging |
Het |
Neo1 |
A |
T |
9: 58,833,094 (GRCm39) |
H550Q |
possibly damaging |
Het |
Or2h1b |
C |
T |
17: 37,461,979 (GRCm39) |
V295I |
probably benign |
Het |
Or5p57 |
A |
C |
7: 107,665,710 (GRCm39) |
F68L |
probably benign |
Het |
Pex1 |
C |
T |
5: 3,655,952 (GRCm39) |
Q260* |
probably null |
Het |
Pex6 |
T |
C |
17: 47,034,425 (GRCm39) |
V758A |
probably damaging |
Het |
Qsox1 |
T |
C |
1: 155,688,346 (GRCm39) |
E67G |
probably damaging |
Het |
Rimbp2 |
C |
T |
5: 128,848,861 (GRCm39) |
S895N |
probably benign |
Het |
Rnls |
A |
G |
19: 33,180,012 (GRCm39) |
V28A |
possibly damaging |
Het |
Spidr |
T |
C |
16: 15,707,494 (GRCm39) |
*934W |
probably null |
Het |
Spta1 |
A |
T |
1: 174,046,380 (GRCm39) |
M1654L |
probably damaging |
Het |
Srbd1 |
C |
A |
17: 86,295,801 (GRCm39) |
V870F |
probably benign |
Het |
Suco |
A |
T |
1: 161,662,136 (GRCm39) |
M765K |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,945,141 (GRCm39) |
N238S |
probably benign |
Het |
Them7 |
T |
A |
2: 105,209,220 (GRCm39) |
L180* |
probably null |
Het |
Trim45 |
A |
G |
3: 100,832,621 (GRCm39) |
I285V |
probably benign |
Het |
Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,601,887 (GRCm39) |
S10265P |
probably damaging |
Het |
Vgll3 |
A |
T |
16: 65,612,556 (GRCm39) |
Y13F |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,061,731 (GRCm39) |
M544K |
unknown |
Het |
Ypel1 |
T |
C |
16: 16,906,702 (GRCm39) |
T500A |
probably benign |
Het |
Zmym1 |
T |
A |
4: 126,942,256 (GRCm39) |
S711C |
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 |
|
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 |
R6933:Taok1
|
UTSW |
11 |
77,446,479 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |