Incidental Mutation 'R0535:Taok1'
ID |
49422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taok1
|
Ensembl Gene |
ENSMUSG00000017291 |
Gene Name |
TAO kinase 1 |
Synonyms |
2810468K05Rik, D130018F14Rik |
MMRRC Submission |
038727-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.455)
|
Stock # |
R0535 (G1)
|
Quality Score |
131 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77444530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 515
(I515N)
|
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: I515N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000017435 Gene: ENSMUSG00000017291 AA Change: I515N
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: I515N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055470 Gene: ENSMUSG00000017291 AA Change: I515N
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 |
0.0600 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,019 (GRCm39) |
S1069P |
probably benign |
Het |
Acmsd |
A |
T |
1: 127,693,680 (GRCm39) |
I305L |
probably benign |
Het |
Aco2 |
G |
A |
15: 81,797,418 (GRCm39) |
E625K |
possibly damaging |
Het |
Acox1 |
G |
A |
11: 116,065,264 (GRCm39) |
T561I |
possibly damaging |
Het |
Acox2 |
T |
A |
14: 8,256,753 (GRCm38) |
T37S |
probably damaging |
Het |
Apc |
A |
T |
18: 34,394,125 (GRCm39) |
K17M |
probably damaging |
Het |
Cant1 |
T |
C |
11: 118,301,969 (GRCm39) |
D116G |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
Cyp51 |
T |
C |
5: 4,149,202 (GRCm39) |
Q225R |
probably benign |
Het |
E2f8 |
T |
C |
7: 48,521,558 (GRCm39) |
|
probably benign |
Het |
Fam163b |
T |
C |
2: 27,002,778 (GRCm39) |
Y73C |
probably benign |
Het |
Fbxw9 |
T |
C |
8: 85,791,229 (GRCm39) |
C271R |
probably damaging |
Het |
Gbp10 |
T |
C |
5: 105,368,877 (GRCm39) |
N321D |
possibly damaging |
Het |
Gle1 |
T |
C |
2: 29,847,817 (GRCm39) |
F675L |
probably damaging |
Het |
Gm6327 |
T |
C |
16: 12,578,241 (GRCm39) |
|
noncoding transcript |
Het |
Gphn |
T |
A |
12: 78,538,824 (GRCm39) |
F157I |
possibly damaging |
Het |
Gtpbp1 |
A |
T |
15: 79,591,933 (GRCm39) |
T94S |
probably damaging |
Het |
Hdac2 |
T |
C |
10: 36,869,895 (GRCm39) |
F286L |
probably benign |
Het |
Ighv3-6 |
A |
T |
12: 114,252,090 (GRCm39) |
|
probably benign |
Het |
Itga2b |
A |
G |
11: 102,348,359 (GRCm39) |
V791A |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,881,835 (GRCm39) |
I796F |
possibly damaging |
Het |
Kel |
T |
C |
6: 41,667,772 (GRCm39) |
K390R |
probably null |
Het |
Krt42 |
C |
T |
11: 100,155,412 (GRCm39) |
C368Y |
probably damaging |
Het |
Lancl1 |
A |
G |
1: 67,049,065 (GRCm39) |
|
probably benign |
Het |
Lipg |
A |
G |
18: 75,087,291 (GRCm39) |
Y177H |
probably damaging |
Het |
Lnpep |
T |
C |
17: 17,791,935 (GRCm39) |
E402G |
possibly damaging |
Het |
Ltbp2 |
A |
G |
12: 84,837,826 (GRCm39) |
F1185L |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,831,632 (GRCm39) |
I1727N |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,302,210 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,875,209 (GRCm39) |
E847G |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,828,413 (GRCm39) |
G275E |
probably benign |
Het |
Nell2 |
T |
A |
15: 95,329,488 (GRCm39) |
T278S |
probably benign |
Het |
Nomo1 |
T |
A |
7: 45,721,941 (GRCm39) |
S961T |
probably damaging |
Het |
Or5ak22 |
A |
G |
2: 85,230,439 (GRCm39) |
L146P |
possibly damaging |
Het |
Pcare |
A |
G |
17: 72,059,434 (GRCm39) |
V81A |
probably benign |
Het |
Phf2 |
A |
G |
13: 48,967,423 (GRCm39) |
Y675H |
unknown |
Het |
Phldb2 |
A |
G |
16: 45,577,490 (GRCm39) |
V1145A |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,839,978 (GRCm39) |
S1058P |
probably benign |
Het |
Prss3 |
T |
C |
6: 41,351,903 (GRCm39) |
N120S |
probably benign |
Het |
Reln |
G |
T |
5: 22,256,274 (GRCm39) |
|
probably benign |
Het |
Spag5 |
A |
G |
11: 78,195,554 (GRCm39) |
Y287C |
probably benign |
Het |
Syde2 |
G |
A |
3: 145,694,925 (GRCm39) |
|
probably null |
Het |
Synj1 |
C |
A |
16: 90,744,975 (GRCm39) |
V1190F |
possibly damaging |
Het |
Tmem259 |
A |
T |
10: 79,814,429 (GRCm39) |
V309E |
probably damaging |
Het |
Tmem62 |
T |
A |
2: 120,833,077 (GRCm39) |
V494E |
possibly damaging |
Het |
Trak1 |
A |
T |
9: 121,272,778 (GRCm39) |
E119V |
probably null |
Het |
Vmn1r1 |
T |
A |
1: 181,985,516 (GRCm39) |
I50L |
probably benign |
Het |
Vps35l |
T |
C |
7: 118,347,404 (GRCm39) |
F118S |
possibly damaging |
Het |
Xpc |
C |
T |
6: 91,481,560 (GRCm39) |
V254I |
possibly damaging |
Het |
Zfp58 |
G |
A |
13: 67,640,201 (GRCm39) |
Q97* |
probably null |
Het |
Zscan5b |
A |
G |
7: 6,236,911 (GRCm39) |
E220G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- actaccaccacttggctCTGAATCAAT -3'
(R):5'- TGGTTATAAGCGGATGAGGCGACA -3'
Sequencing Primer
(F):5'- aagttagaaggcagaggcag -3'
(R):5'- GGCGACAGCATCAAAAGC -3'
|
Posted On |
2013-06-12 |