Incidental Mutation 'IGL03292:Taok1'
ID |
415935 |
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 # |
IGL03292
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77430962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 821
(M821K)
|
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: M821K
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000017435 Gene: ENSMUSG00000017291 AA Change: M821K
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: M821K
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000055470 Gene: ENSMUSG00000017291 AA Change: M821K
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 |
noncoding transcript
Transcript: ENSMUST00000120228
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147386
|
SMART Domains |
Protein: ENSMUSP00000116682 Gene: ENSMUSG00000000686
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,765,827 (GRCm39) |
C713Y |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,856,803 (GRCm39) |
N205S |
probably benign |
Het |
Arhgef5 |
T |
G |
6: 43,257,180 (GRCm39) |
F1244V |
probably damaging |
Het |
Bbs2 |
A |
G |
8: 94,801,749 (GRCm39) |
|
probably null |
Het |
Chsy1 |
A |
C |
7: 65,775,120 (GRCm39) |
M150L |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,632,989 (GRCm39) |
|
probably null |
Het |
Efhc1 |
T |
C |
1: 21,030,496 (GRCm39) |
I143T |
possibly damaging |
Het |
Elf4 |
A |
C |
X: 47,503,583 (GRCm39) |
F642C |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,047,771 (GRCm39) |
D128G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,855,350 (GRCm39) |
I1953N |
probably damaging |
Het |
Frmpd4 |
A |
T |
X: 166,260,586 (GRCm39) |
I1052K |
probably benign |
Het |
Ift52 |
T |
A |
2: 162,865,320 (GRCm39) |
I57N |
probably damaging |
Het |
Lilrb4a |
G |
A |
10: 51,370,942 (GRCm39) |
|
probably null |
Het |
Mob3a |
A |
T |
10: 80,526,920 (GRCm39) |
I135N |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,613,437 (GRCm39) |
I799N |
probably damaging |
Het |
Rad52 |
T |
C |
6: 119,895,934 (GRCm39) |
L265P |
possibly damaging |
Het |
Sorbs1 |
T |
A |
19: 40,362,009 (GRCm39) |
Q155L |
possibly damaging |
Het |
Tars1 |
T |
A |
15: 11,384,107 (GRCm39) |
E720V |
probably benign |
Het |
Tec |
T |
C |
5: 72,914,707 (GRCm39) |
E603G |
probably null |
Het |
Timp1 |
A |
G |
X: 20,739,057 (GRCm39) |
T56A |
probably benign |
Het |
Txnrd2 |
C |
A |
16: 18,296,479 (GRCm39) |
H511Q |
possibly damaging |
Het |
Ubr4 |
A |
T |
4: 139,167,746 (GRCm39) |
D2743V |
probably damaging |
Het |
Vmn1r211 |
C |
T |
13: 23,036,613 (GRCm39) |
G18D |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,476,840 (GRCm39) |
Q3127* |
probably null |
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 |
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 |
2016-08-02 |