Incidental Mutation 'R3824:Taok3'
ID |
275270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taok3
|
Ensembl Gene |
ENSMUSG00000061288 |
Gene Name |
TAO kinase 3 |
Synonyms |
2900006A08Rik, A430105I05Rik |
MMRRC Submission |
040885-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3824 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117394002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 592
(T592A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111975]
[ENSMUST00000111978]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
AlphaFold |
Q8BYC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092889
AA Change: T592A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000090565 Gene: ENSMUSG00000061288 AA Change: T592A
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 |
probably benign
Transcript: ENSMUST00000111975
AA Change: T132A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107606 Gene: ENSMUSG00000061288 AA Change: T132A
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 |
probably benign
Transcript: ENSMUST00000111978
AA Change: T592A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000107609 Gene: ENSMUSG00000061288 AA Change: T592A
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 |
probably benign
Transcript: ENSMUST00000145640
|
SMART Domains |
Protein: ENSMUSP00000116920 Gene: ENSMUSG00000061288
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 |
probably benign
Transcript: ENSMUST00000179276
AA Change: T592A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000136750 Gene: ENSMUSG00000061288 AA Change: T592A
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 |
|
Meta Mutation Damage Score |
0.0575 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (62/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
C |
17: 35,878,508 (GRCm39) |
C20R |
probably benign |
Het |
6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
9430015G10Rik |
T |
A |
4: 156,203,607 (GRCm39) |
|
probably null |
Het |
A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
Abcc3 |
T |
C |
11: 94,259,446 (GRCm39) |
|
probably null |
Het |
Acad10 |
A |
T |
5: 121,760,881 (GRCm39) |
M941K |
probably benign |
Het |
Agrn |
A |
G |
4: 156,253,759 (GRCm39) |
L1649P |
probably damaging |
Het |
Arhgap12 |
T |
C |
18: 6,061,930 (GRCm39) |
R402G |
possibly damaging |
Het |
Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
Btn2a2 |
T |
A |
13: 23,664,635 (GRCm39) |
T308S |
probably benign |
Het |
C8b |
G |
T |
4: 104,640,206 (GRCm39) |
A170S |
probably benign |
Het |
Cabyr |
T |
A |
18: 12,884,747 (GRCm39) |
D411E |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,314,964 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
Cflar |
T |
A |
1: 58,774,856 (GRCm39) |
Y218N |
probably benign |
Het |
Col11a2 |
T |
C |
17: 34,273,154 (GRCm39) |
Y630H |
probably damaging |
Het |
Coq6 |
T |
C |
12: 84,419,189 (GRCm39) |
|
probably benign |
Het |
Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
Fry |
T |
A |
5: 150,419,884 (GRCm39) |
S1015R |
possibly damaging |
Het |
Gjb4 |
A |
G |
4: 127,245,222 (GRCm39) |
S240P |
probably benign |
Het |
Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
Gls |
A |
C |
1: 52,272,147 (GRCm39) |
M2R |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,225,621 (GRCm39) |
Y645* |
probably null |
Het |
Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
Kat8 |
T |
A |
7: 127,523,654 (GRCm39) |
D292E |
possibly damaging |
Het |
Myo19 |
T |
A |
11: 84,776,505 (GRCm39) |
C54S |
probably damaging |
Het |
Myo5b |
C |
T |
18: 74,794,726 (GRCm39) |
H532Y |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,370,904 (GRCm39) |
K357E |
possibly damaging |
Het |
Ndufaf1 |
C |
T |
2: 119,490,752 (GRCm39) |
V105M |
probably benign |
Het |
Or2o1 |
A |
G |
11: 49,051,620 (GRCm39) |
S260G |
possibly damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
Or8b1b |
T |
A |
9: 38,375,822 (GRCm39) |
C162S |
probably benign |
Het |
Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
Or8k30 |
T |
G |
2: 86,339,367 (GRCm39) |
L188R |
possibly damaging |
Het |
Palld |
T |
C |
8: 62,162,067 (GRCm39) |
D439G |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,308,828 (GRCm39) |
|
probably benign |
Het |
Pigo |
A |
T |
4: 43,020,909 (GRCm39) |
W678R |
possibly damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,283 (GRCm39) |
|
probably null |
Het |
Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
Pramel24 |
A |
T |
4: 143,453,255 (GRCm39) |
H121L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,377,593 (GRCm39) |
|
probably benign |
Het |
Ptk7 |
A |
G |
17: 46,876,304 (GRCm39) |
I1049T |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
Ptprm |
A |
G |
17: 67,116,570 (GRCm39) |
V894A |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sdk1 |
A |
G |
5: 141,921,804 (GRCm39) |
T267A |
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,700,100 (GRCm39) |
Q144R |
possibly damaging |
Het |
Sorcs3 |
T |
A |
19: 48,711,395 (GRCm39) |
D653E |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,399,548 (GRCm39) |
S926F |
possibly damaging |
Het |
Spata31f3 |
A |
G |
4: 42,873,492 (GRCm39) |
|
probably null |
Het |
St8sia1 |
A |
G |
6: 142,774,751 (GRCm39) |
L276P |
probably damaging |
Het |
Sync |
T |
C |
4: 129,188,156 (GRCm39) |
V396A |
possibly damaging |
Het |
Tas2r104 |
T |
A |
6: 131,662,002 (GRCm39) |
I236F |
possibly damaging |
Het |
Tas2r107 |
A |
C |
6: 131,636,293 (GRCm39) |
I252S |
probably benign |
Het |
Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
Usp24 |
G |
A |
4: 106,236,263 (GRCm39) |
V984I |
probably benign |
Het |
Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
Vmn1r2 |
A |
T |
4: 3,172,413 (GRCm39) |
T111S |
probably damaging |
Het |
Vmn2r74 |
T |
G |
7: 85,607,466 (GRCm39) |
N86H |
probably damaging |
Het |
Zfp12 |
T |
C |
5: 143,226,077 (GRCm39) |
V72A |
probably benign |
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 |
|
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 |
R8485:Taok3
|
UTSW |
5 |
117,389,142 (GRCm39) |
missense |
possibly damaging |
0.54 |
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'- TCTCTGCATTCACGGGTGAC -3'
(R):5'- ATGGCTCTCTTACCGGACAG -3'
Sequencing Primer
(F):5'- ATGAACGAGGACCATAGC -3'
(R):5'- CACTGTGCTAATGGCTAAGGACAC -3'
|
Posted On |
2015-04-02 |