Incidental Mutation 'IGL01598:Taok1'
ID |
91737 |
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: 0.441)
|
Stock # |
IGL01598
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77462510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 193
(V193A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055470
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017435]
[ENSMUST00000058496]
|
AlphaFold |
Q5F2E8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017435
AA Change: V193A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000017435 Gene: ENSMUSG00000017291 AA Change: V193A
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 damaging
Transcript: ENSMUST00000058496
AA Change: V193A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055470 Gene: ENSMUSG00000017291 AA Change: V193A
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably damaging |
Het |
|
Other mutations in Taok1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-12-09 |