Incidental Mutation 'R4695:Taok3'
ID |
355615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taok3
|
Ensembl Gene |
ENSMUSG00000061288 |
Gene Name |
TAO kinase 3 |
Synonyms |
2900006A08Rik, A430105I05Rik |
MMRRC Submission |
042016-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4695 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 117366131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 394
(T394M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111978]
[ENSMUST00000127814]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
AlphaFold |
Q8BYC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092889
AA Change: T394M
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000090565 Gene: ENSMUSG00000061288 AA Change: T394M
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: ENSMUST00000111978
AA Change: T394M
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000107609 Gene: ENSMUSG00000061288 AA Change: T394M
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 |
noncoding transcript
Transcript: ENSMUST00000126813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127814
AA Change: T235M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000119998 Gene: ENSMUSG00000061288 AA Change: T235M
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
1 |
171 |
4.8e-27 |
PFAM |
Pfam:Pkinase
|
2 |
172 |
3.1e-42 |
PFAM |
Pfam:Kinase-like
|
3 |
133 |
1.1e-8 |
PFAM |
low complexity region
|
190 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145640
AA Change: T394M
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000116920 Gene: ENSMUSG00000061288 AA Change: T394M
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: T394M
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000136750 Gene: ENSMUSG00000061288 AA Change: T394M
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
T |
A |
17: 33,750,713 (GRCm39) |
M251K |
possibly damaging |
Het |
Adcy2 |
A |
T |
13: 68,875,962 (GRCm39) |
H513Q |
possibly damaging |
Het |
Afg2a |
T |
G |
3: 37,512,474 (GRCm39) |
F713C |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,580,619 (GRCm39) |
L1861P |
possibly damaging |
Het |
Apc2 |
C |
A |
10: 80,146,877 (GRCm39) |
R615S |
probably damaging |
Het |
Arhgap45 |
A |
C |
10: 79,861,364 (GRCm39) |
D509A |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,351,208 (GRCm39) |
T108A |
probably benign |
Het |
Blm |
T |
A |
7: 80,143,976 (GRCm39) |
D821V |
probably damaging |
Het |
C3 |
T |
A |
17: 57,528,057 (GRCm39) |
I721L |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,649,826 (GRCm39) |
V207E |
probably damaging |
Het |
Ccndbp1 |
C |
T |
2: 120,845,208 (GRCm39) |
|
probably benign |
Het |
Cd180 |
A |
C |
13: 102,842,268 (GRCm39) |
Q438P |
probably benign |
Het |
Cd248 |
C |
T |
19: 5,118,473 (GRCm39) |
T107M |
probably damaging |
Het |
Cdan1 |
G |
A |
2: 120,558,864 (GRCm39) |
R445C |
probably damaging |
Het |
Cic |
C |
A |
7: 24,973,013 (GRCm39) |
H915N |
possibly damaging |
Het |
Cox8c |
T |
C |
12: 102,865,742 (GRCm39) |
S40P |
possibly damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,092 (GRCm39) |
C347S |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,356 (GRCm39) |
F974I |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,972,221 (GRCm39) |
T1414S |
probably benign |
Het |
Dlg2 |
C |
A |
7: 92,087,170 (GRCm39) |
|
probably null |
Het |
Dynlt5 |
T |
A |
4: 102,861,426 (GRCm39) |
I136K |
probably damaging |
Het |
Dzip1l |
T |
A |
9: 99,529,258 (GRCm39) |
M329K |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,771,924 (GRCm39) |
L582I |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,559,773 (GRCm39) |
Y1068C |
probably damaging |
Het |
Fam221b |
T |
A |
4: 43,659,622 (GRCm39) |
|
probably null |
Het |
Fbxw22 |
A |
G |
9: 109,207,939 (GRCm39) |
I444T |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,440,428 (GRCm39) |
N245K |
probably damaging |
Het |
Fnip1 |
T |
A |
11: 54,390,245 (GRCm39) |
I380N |
probably damaging |
Het |
Gbf1 |
C |
T |
19: 46,247,606 (GRCm39) |
R181* |
probably null |
Het |
Igkv6-17 |
T |
A |
6: 70,348,486 (GRCm39) |
F12I |
probably benign |
Het |
Itln1 |
C |
A |
1: 171,358,645 (GRCm39) |
G174V |
probably damaging |
Het |
Lrrc52 |
A |
G |
1: 167,293,660 (GRCm39) |
|
probably null |
Het |
LTO1 |
T |
C |
7: 144,482,715 (GRCm39) |
|
probably null |
Het |
Matn2 |
A |
G |
15: 34,403,071 (GRCm39) |
Y432C |
probably damaging |
Het |
Metap1d |
A |
G |
2: 71,355,305 (GRCm39) |
*336W |
probably null |
Het |
Mgam2-ps |
T |
A |
6: 40,779,489 (GRCm39) |
|
noncoding transcript |
Het |
Mrps9 |
T |
A |
1: 42,901,675 (GRCm39) |
V61D |
possibly damaging |
Het |
Myh7b |
T |
C |
2: 155,456,097 (GRCm39) |
Y161H |
probably damaging |
Het |
Myh9 |
T |
A |
15: 77,653,053 (GRCm39) |
D1428V |
probably damaging |
Het |
N4bp3 |
A |
T |
11: 51,535,306 (GRCm39) |
|
probably null |
Het |
Nat9 |
T |
A |
11: 115,075,416 (GRCm39) |
Q75L |
probably benign |
Het |
Nop2 |
T |
C |
6: 125,121,519 (GRCm39) |
V767A |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,274,307 (GRCm39) |
K728E |
probably damaging |
Het |
Or51e1 |
T |
G |
7: 102,358,764 (GRCm39) |
C99W |
probably damaging |
Het |
Or5p72 |
G |
A |
7: 108,022,196 (GRCm39) |
M139I |
probably benign |
Het |
Or7g21 |
T |
A |
9: 19,032,306 (GRCm39) |
H15Q |
probably null |
Het |
Pcdhgb2 |
A |
G |
18: 37,825,375 (GRCm39) |
T789A |
probably benign |
Het |
Pcyt2 |
T |
C |
11: 120,502,000 (GRCm39) |
D321G |
probably benign |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rbbp8 |
A |
T |
18: 11,854,839 (GRCm39) |
K355* |
probably null |
Het |
Rhag |
T |
C |
17: 41,147,358 (GRCm39) |
Y407H |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,314,495 (GRCm39) |
V161M |
probably damaging |
Het |
Rpl27-ps3 |
C |
A |
18: 6,332,922 (GRCm39) |
N97K |
probably benign |
Het |
Slc45a4 |
A |
G |
15: 73,453,924 (GRCm39) |
I691T |
possibly damaging |
Het |
Slc9a9 |
A |
T |
9: 94,818,502 (GRCm39) |
|
probably benign |
Het |
Stard13 |
A |
G |
5: 150,984,280 (GRCm39) |
F619L |
probably benign |
Het |
Stt3b |
A |
T |
9: 115,083,862 (GRCm39) |
V438E |
probably damaging |
Het |
Tacr3 |
C |
T |
3: 134,535,182 (GRCm39) |
T50I |
probably benign |
Het |
Tacr3 |
G |
T |
3: 134,635,690 (GRCm39) |
C298F |
probably damaging |
Het |
Tgfb1i1 |
A |
G |
7: 127,848,348 (GRCm39) |
D128G |
probably damaging |
Het |
Tgfbr3l |
G |
T |
8: 4,300,574 (GRCm39) |
V251L |
probably benign |
Het |
Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,633,238 (GRCm39) |
S953P |
probably benign |
Het |
Trappc10 |
T |
C |
10: 78,033,697 (GRCm39) |
K957E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,565,668 (GRCm39) |
E28228V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vdr |
A |
T |
15: 97,756,801 (GRCm39) |
|
probably null |
Het |
Zfp42 |
A |
T |
8: 43,749,168 (GRCm39) |
L111Q |
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 |
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'- CCTTACAGGATGGTGAGCAAGG -3'
(R):5'- TTCTGCTTGATGGTGCCAGC -3'
Sequencing Primer
(F):5'- GCAAGGAAGCAACCTGAACCG -3'
(R):5'- TGATGGTGCCAGCAACTG -3'
|
Posted On |
2015-10-21 |