Incidental Mutation 'R8485:Taok3'
| ID |
657674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
067928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8485 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117389142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 516
(V516M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111975]
[ENSMUST00000111978]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092889
AA Change: V516M
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: V516M
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
277 |
4.4e-84 |
SMART |
|
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
coiled coil region
|
452 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
618 |
649 |
N/A |
INTRINSIC |
|
coiled coil region
|
789 |
869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111975
AA Change: V56M
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288
AA Change: V56M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
coiled coil region
|
158 |
189 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111978
AA Change: V516M
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: V516M
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
277 |
4.4e-84 |
SMART |
|
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
coiled coil region
|
452 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
618 |
649 |
N/A |
INTRINSIC |
|
coiled coil region
|
789 |
869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145640
AA Change: V516M
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: V516M
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
277 |
2.2e-86 |
SMART |
|
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
coiled coil region
|
452 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179276
AA Change: V516M
PolyPhen 2
Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: V516M
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
277 |
4.4e-84 |
SMART |
|
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
coiled coil region
|
452 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
618 |
649 |
N/A |
INTRINSIC |
|
coiled coil region
|
789 |
869 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
A |
G |
3: 97,066,302 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,886,794 (GRCm39) |
T999A |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,153 (GRCm39) |
T829P |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,290,711 (GRCm39) |
S1574N |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,384 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
A |
2: 110,498,200 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
T |
C |
10: 26,722,104 (GRCm39) |
I25T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,297,945 (GRCm39) |
F572S |
probably damaging |
Het |
| Aspdh |
G |
T |
7: 44,117,093 (GRCm39) |
G165W |
probably damaging |
Het |
| Btnl10 |
G |
T |
11: 58,811,142 (GRCm39) |
R155L |
possibly damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,541 (GRCm39) |
E168G |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,439,872 (GRCm38) |
T1215M |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,357,517 (GRCm39) |
G598C |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,584,105 (GRCm39) |
S69P |
probably damaging |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Dlec1 |
T |
G |
9: 118,957,659 (GRCm39) |
V881G |
probably benign |
Het |
| Dnah7c |
A |
C |
1: 46,719,952 (GRCm39) |
D2801A |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,030,460 (GRCm39) |
M131T |
possibly damaging |
Het |
| Ercc2 |
G |
A |
7: 19,122,165 (GRCm39) |
V386I |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,898,436 (GRCm39) |
I885N |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Flii |
G |
T |
11: 60,607,063 (GRCm39) |
A971E |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,388,844 (GRCm39) |
E599V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,679,036 (GRCm39) |
L453F |
probably benign |
Het |
| Gm49368 |
C |
T |
7: 127,711,611 (GRCm39) |
P624L |
probably damaging |
Het |
| Gpa33 |
T |
A |
1: 165,992,261 (GRCm39) |
D268E |
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,918,677 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
T |
C |
13: 95,796,659 (GRCm39) |
N1165S |
probably damaging |
Het |
| Irag2 |
A |
T |
6: 145,117,400 (GRCm39) |
N379I |
probably damaging |
Het |
| Kctd2 |
G |
T |
11: 115,320,434 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Mycbpap |
A |
G |
11: 94,402,534 (GRCm39) |
L267P |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,405,359 (GRCm39) |
R57G |
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,818,760 (GRCm39) |
L505R |
probably damaging |
Het |
| Nfatc2 |
A |
C |
2: 168,432,012 (GRCm39) |
F34V |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,165,598 (GRCm39) |
N655S |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,189 (GRCm39) |
I909F |
probably damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,601 (GRCm39) |
M290L |
probably benign |
Het |
| Or8b37 |
T |
A |
9: 37,959,253 (GRCm39) |
M245K |
probably benign |
Het |
| Pak2 |
G |
A |
16: 31,871,083 (GRCm39) |
A33V |
probably benign |
Het |
| Phb1 |
A |
G |
11: 95,566,055 (GRCm39) |
D113G |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,257 (GRCm39) |
I1619F |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,423,796 (GRCm39) |
I3113V |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,102,105 (GRCm39) |
M726K |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,122 (GRCm39) |
L612P |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,600,186 (GRCm39) |
S598P |
probably damaging |
Het |
| Rdm1 |
G |
A |
11: 101,518,816 (GRCm39) |
V8I |
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,796,933 (GRCm39) |
F1148L |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,074,218 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
T |
A |
14: 54,962,264 (GRCm39) |
T457S |
probably benign |
Het |
| Stk32a |
T |
A |
18: 43,376,075 (GRCm39) |
M48K |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,064,566 (GRCm39) |
S642P |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,584,902 (GRCm39) |
I7V |
possibly damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,553,633 (GRCm39) |
S504C |
possibly damaging |
Het |
| Zfp512 |
C |
T |
5: 31,637,401 (GRCm39) |
R497W |
probably damaging |
Het |
|
| Other mutations in Taok3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Taok3
|
APN |
5 |
117,410,262 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01632:Taok3
|
APN |
5 |
117,403,993 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02894:Taok3
|
APN |
5 |
117,401,678 (GRCm39) |
missense |
probably benign |
0.19 |
|
bonze
|
UTSW |
5 |
117,410,294 (GRCm39) |
nonsense |
probably null |
|
|
daoist
|
UTSW |
5 |
117,347,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
haller
|
UTSW |
5 |
117,344,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Perseveration
|
UTSW |
5 |
117,393,928 (GRCm39) |
missense |
probably benign |
0.25 |
|
taoist
|
UTSW |
5 |
117,344,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Three_treasures
|
UTSW |
5 |
117,355,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4366001:Taok3
|
UTSW |
5 |
117,366,050 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0046:Taok3
|
UTSW |
5 |
117,410,294 (GRCm39) |
nonsense |
probably null |
|
|
R0046:Taok3
|
UTSW |
5 |
117,410,294 (GRCm39) |
nonsense |
probably null |
|
|
R0158:Taok3
|
UTSW |
5 |
117,355,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0245:Taok3
|
UTSW |
5 |
117,390,744 (GRCm39) |
splice site |
probably benign |
|
|
R0371:Taok3
|
UTSW |
5 |
117,344,752 (GRCm39) |
nonsense |
probably null |
|
|
R1140:Taok3
|
UTSW |
5 |
117,366,118 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1302:Taok3
|
UTSW |
5 |
117,337,108 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1376:Taok3
|
UTSW |
5 |
117,404,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1376:Taok3
|
UTSW |
5 |
117,404,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Taok3
|
UTSW |
5 |
117,344,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Taok3
|
UTSW |
5 |
117,393,991 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1977:Taok3
|
UTSW |
5 |
117,403,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2898:Taok3
|
UTSW |
5 |
117,338,134 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3824:Taok3
|
UTSW |
5 |
117,394,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4378:Taok3
|
UTSW |
5 |
117,347,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4695:Taok3
|
UTSW |
5 |
117,366,131 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4882:Taok3
|
UTSW |
5 |
117,390,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5286:Taok3
|
UTSW |
5 |
117,404,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Taok3
|
UTSW |
5 |
117,411,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5562:Taok3
|
UTSW |
5 |
117,389,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Taok3
|
UTSW |
5 |
117,344,785 (GRCm39) |
missense |
probably benign |
|
|
R6241:Taok3
|
UTSW |
5 |
117,410,262 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6290:Taok3
|
UTSW |
5 |
117,342,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Taok3
|
UTSW |
5 |
117,394,003 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6339:Taok3
|
UTSW |
5 |
117,366,095 (GRCm39) |
missense |
probably benign |
|
|
R6717:Taok3
|
UTSW |
5 |
117,379,015 (GRCm39) |
intron |
probably benign |
|
|
R6721:Taok3
|
UTSW |
5 |
117,393,928 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6755:Taok3
|
UTSW |
5 |
117,344,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7046:Taok3
|
UTSW |
5 |
117,411,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Taok3
|
UTSW |
5 |
117,390,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Taok3
|
UTSW |
5 |
117,390,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7308:Taok3
|
UTSW |
5 |
117,338,216 (GRCm39) |
nonsense |
probably null |
|
|
R7439:Taok3
|
UTSW |
5 |
117,388,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7732:Taok3
|
UTSW |
5 |
117,331,813 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7758:Taok3
|
UTSW |
5 |
117,388,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Taok3
|
UTSW |
5 |
117,331,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8412:Taok3
|
UTSW |
5 |
117,404,102 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8989:Taok3
|
UTSW |
5 |
117,379,227 (GRCm39) |
missense |
probably benign |
|
|
R9135:Taok3
|
UTSW |
5 |
117,379,245 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9135:Taok3
|
UTSW |
5 |
117,379,168 (GRCm39) |
missense |
probably benign |
|
|
R9135:Taok3
|
UTSW |
5 |
117,344,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Taok3
|
UTSW |
5 |
117,355,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACACGGCAGATCCATGAGC -3'
(R):5'- TCTTGCCTTCCATGATGATGTCAG -3'
Sequencing Primer
(F):5'- GCAGATCCATGAGCATGAGC -3'
(R):5'- TCCATGATGATGTCAGATGGGACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation