Incidental Mutation 'R8064:Taok1'
| ID |
619912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok1
|
| Ensembl Gene |
ENSMUSG00000017291 |
| Gene Name |
TAO kinase 1 |
| Synonyms |
2810468K05Rik, D130018F14Rik |
| MMRRC Submission |
067500-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.441)
|
| Stock # |
R8064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 77440130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 626
(R626*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017435]
[ENSMUST00000058496]
|
| AlphaFold |
Q5F2E8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017435
AA Change: R626*
|
| SMART Domains |
Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: R626*
| 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 null
Transcript: ENSMUST00000058496
AA Change: R626*
|
| SMART Domains |
Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: R626*
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,171,566 (GRCm39) |
V755D |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,459,637 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
T |
C |
2: 25,166,418 (GRCm39) |
V395A |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,519,417 (GRCm39) |
V221A |
not run |
Het |
| Arhgef28 |
T |
A |
13: 98,115,002 (GRCm39) |
Y616F |
probably benign |
Het |
| Brdt |
C |
A |
5: 107,525,862 (GRCm39) |
S905* |
probably null |
Het |
| Ccdc54 |
T |
A |
16: 50,410,327 (GRCm39) |
H313L |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,071,115 (GRCm39) |
L530P |
probably damaging |
Het |
| Csl |
A |
T |
10: 99,594,407 (GRCm39) |
N219K |
probably damaging |
Het |
| Cyp2j5 |
A |
G |
4: 96,546,948 (GRCm39) |
S189P |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,352,155 (GRCm39) |
C86S |
probably benign |
Het |
| Dgkg |
TCTCCT |
TCT |
16: 22,399,344 (GRCm39) |
|
probably null |
Het |
| F11 |
C |
T |
8: 45,698,810 (GRCm39) |
G445S |
probably benign |
Het |
| Fer |
T |
A |
17: 64,214,418 (GRCm39) |
I117N |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 101,039,522 (GRCm39) |
I290F |
probably benign |
Het |
| H2-M10.2 |
C |
T |
17: 36,595,442 (GRCm39) |
V283M |
probably damaging |
Het |
| Hpse |
G |
A |
5: 100,836,766 (GRCm39) |
P408S |
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,296,882 (GRCm39) |
N515K |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,205,338 (GRCm39) |
L209P |
probably damaging |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,875 (GRCm39) |
Y56F |
possibly damaging |
Het |
| Ins2 |
A |
G |
7: 142,232,553 (GRCm39) |
L77P |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,692,426 (GRCm39) |
M1L |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,946,460 (GRCm39) |
|
probably null |
Het |
| Lysmd4 |
T |
C |
7: 66,873,398 (GRCm39) |
F11S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,353,167 (GRCm39) |
D3625V |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,038,700 (GRCm39) |
E459V |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,190,698 (GRCm39) |
K210* |
probably null |
Het |
| Or10ag57 |
C |
T |
2: 87,218,853 (GRCm39) |
T268I |
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,386 (GRCm39) |
F65S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,294,561 (GRCm39) |
Q6L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,692,225 (GRCm39) |
N153S |
probably damaging |
Het |
| Rac3 |
T |
A |
11: 120,614,401 (GRCm39) |
V182E |
probably benign |
Het |
| Ripk3 |
T |
G |
14: 56,025,383 (GRCm39) |
E60D |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,429,624 (GRCm39) |
I561N |
possibly damaging |
Het |
| Smad7 |
A |
G |
18: 75,527,153 (GRCm39) |
Y333C |
probably damaging |
Het |
| Snhg11 |
T |
G |
2: 158,218,121 (GRCm39) |
M1R |
probably null |
Het |
| Sp100 |
C |
T |
1: 85,608,860 (GRCm39) |
R330* |
probably null |
Het |
| Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
| Spon1 |
T |
A |
7: 113,635,856 (GRCm39) |
I690N |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,306,251 (GRCm39) |
G59D |
possibly damaging |
Het |
| Tmem8b |
T |
C |
4: 43,690,139 (GRCm39) |
F399S |
probably damaging |
Het |
| Trank1 |
C |
T |
9: 111,181,144 (GRCm39) |
Q389* |
probably null |
Het |
| Vmn1r33 |
G |
T |
6: 66,588,911 (GRCm39) |
S214R |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,353,147 (GRCm39) |
I238T |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,749,620 (GRCm39) |
T259I |
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 |
|
|
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 |
|
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'- TCAGGATATTAAGACCAGTTTGGC -3'
(R):5'- GCATGCAGGGAACATATTACTTACC -3'
Sequencing Primer
(F):5'- GCTTAATAATGAGTTTGAGGCCAG -3'
(R):5'- TTGTTTCTAGGAGCTGAATGAAAACC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation