Incidental Mutation 'R0653:Taok1'
| ID |
62394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok1
|
| Ensembl Gene |
ENSMUSG00000017291 |
| Gene Name |
TAO kinase 1 |
| Synonyms |
2810468K05Rik, D130018F14Rik |
| MMRRC Submission |
038838-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.441)
|
| Stock # |
R0653 (G1)
|
| Quality Score |
92 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 77469550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017435]
[ENSMUST00000058496]
|
| AlphaFold |
Q5F2E8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017435
|
| SMART Domains |
Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
| 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
|
| SMART Domains |
Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,066,371 (GRCm39) |
R612* |
probably null |
Het |
| Adgra1 |
A |
G |
7: 139,456,063 (GRCm39) |
T564A |
probably damaging |
Het |
| Akr1c18 |
A |
T |
13: 4,195,307 (GRCm39) |
D50E |
probably damaging |
Het |
| Atg9a |
C |
A |
1: 75,166,972 (GRCm39) |
L26F |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,893,343 (GRCm39) |
T899A |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,910,841 (GRCm39) |
E358G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,019,970 (GRCm39) |
Y131C |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,043,484 (GRCm39) |
E360G |
possibly damaging |
Het |
| Casd1 |
A |
T |
6: 4,608,075 (GRCm39) |
I76L |
probably benign |
Het |
| Casq2 |
G |
A |
3: 102,020,482 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
T |
A |
1: 182,575,129 (GRCm39) |
Q520L |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,392,183 (GRCm39) |
K550E |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,262,418 (GRCm39) |
S521P |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,340,257 (GRCm39) |
V705E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,225,789 (GRCm39) |
Y792H |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,950,995 (GRCm39) |
C73S |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,279,509 (GRCm39) |
|
probably null |
Het |
| Farp1 |
T |
C |
14: 121,471,258 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,790 (GRCm39) |
E234G |
probably benign |
Het |
| Gtf3c5 |
A |
T |
2: 28,468,008 (GRCm39) |
M151K |
probably benign |
Het |
| Hgs |
G |
A |
11: 120,359,904 (GRCm39) |
R36H |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,937,653 (GRCm39) |
Q279* |
probably null |
Het |
| Lysmd4 |
T |
A |
7: 66,875,788 (GRCm39) |
D150E |
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,518,242 (GRCm39) |
K186E |
probably damaging |
Het |
| Myo9a |
A |
C |
9: 59,832,274 (GRCm39) |
Q2601P |
probably damaging |
Het |
| Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
| Nr5a2 |
A |
G |
1: 136,876,543 (GRCm39) |
V40A |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,898,534 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
C |
A |
11: 49,322,078 (GRCm39) |
Y258* |
probably null |
Het |
| Or4c114 |
A |
G |
2: 88,904,808 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,934 (GRCm39) |
N84S |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,732,269 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,118,228 (GRCm39) |
I2939V |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,657,256 (GRCm39) |
K470I |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,524,955 (GRCm39) |
I1050T |
possibly damaging |
Het |
| Scaf11 |
G |
T |
15: 96,316,522 (GRCm39) |
S17* |
probably null |
Het |
| Scn9a |
A |
T |
2: 66,363,721 (GRCm39) |
N841K |
probably damaging |
Het |
| Slc35e3 |
C |
A |
10: 117,576,711 (GRCm39) |
E207* |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,377 (GRCm39) |
F503L |
probably damaging |
Het |
| Spag16 |
G |
T |
1: 69,909,504 (GRCm39) |
K200N |
probably damaging |
Het |
| Supt6 |
G |
T |
11: 78,116,841 (GRCm39) |
Q604K |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,964,503 (GRCm39) |
H889Q |
probably damaging |
Het |
| Tmed6 |
A |
T |
8: 107,792,283 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
A |
T |
11: 115,705,887 (GRCm39) |
E68V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,559,878 (GRCm39) |
S21181P |
probably damaging |
Het |
| Ube3d |
A |
T |
9: 86,334,043 (GRCm39) |
M33K |
possibly damaging |
Het |
| Umodl1 |
C |
A |
17: 31,203,002 (GRCm39) |
Q452K |
probably benign |
Het |
| Wif1 |
G |
T |
10: 120,935,704 (GRCm39) |
A354S |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,210,492 (GRCm39) |
F1788L |
possibly damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,673,440 (GRCm39) |
I1497F |
possibly damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp30 |
G |
A |
7: 29,492,178 (GRCm39) |
R225Q |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,190 (GRCm39) |
E296G |
probably damaging |
Het |
| Zfp874b |
A |
G |
13: 67,623,052 (GRCm39) |
F86S |
possibly damaging |
Het |
| Zfyve19 |
A |
G |
2: 119,041,696 (GRCm39) |
S88G |
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 |
|
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'- GCCAAGGAATCCTGTCATCCCAAATT -3'
(R):5'- TGTGTCGTATTAAGCAACAAGCTGAGT -3'
Sequencing Primer
(F):5'- TCCTGAAGGTATGAATGAACTCTGG -3'
(R):5'- TCCCTCCACATAGAAATGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation