Incidental Mutation 'R4058:Taok1'
ID |
314353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taok1
|
Ensembl Gene |
ENSMUSG00000017291 |
Gene Name |
TAO kinase 1 |
Synonyms |
2810468K05Rik, D130018F14Rik |
MMRRC Submission |
040969-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.455)
|
Stock # |
R4058 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77440264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 581
(K581M)
|
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: K581M
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000017435 Gene: ENSMUSG00000017291 AA Change: K581M
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: K581M
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000055470 Gene: ENSMUSG00000017291 AA Change: K581M
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
88% (38/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACAGAGTAAGGCATTGCTGAAAAC -3'
(R):5'- TGGTCTTTTAAAGCCAGGAACTATG -3'
Sequencing Primer
(F):5'- CATTTAAATGTACATACCTCCCTGAC -3'
(R):5'- GCCAGGAACTATGAAAATTAAATTGC -3'
|
Posted On |
2015-04-30 |