Incidental Mutation 'IGL02894:Taok3'
| ID |
363349 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117401678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 650
(I650V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111975]
[ENSMUST00000111978]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092889
AA Change: I650V
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: I650V
| 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: I190V
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288
AA Change: I190V
| 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: I650V
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: I650V
| 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: ENSMUST00000179276
AA Change: I650V
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: I650V
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630023A22Rik |
T |
A |
14: 33,776,817 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
A |
2: 172,208,868 (GRCm39) |
|
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,786,276 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
G |
15: 21,586,380 (GRCm39) |
Y733C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,366,722 (GRCm39) |
E199D |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,302,526 (GRCm39) |
L558Q |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,135,130 (GRCm39) |
R536L |
probably benign |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,836 (GRCm39) |
Q151* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,616,487 (GRCm39) |
V1158E |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,940,084 (GRCm39) |
E1677* |
probably null |
Het |
| Dock3 |
T |
C |
9: 106,807,298 (GRCm39) |
N1343S |
probably benign |
Het |
| Dock6 |
T |
A |
9: 21,723,111 (GRCm39) |
E1603D |
probably damaging |
Het |
| Fam91a1 |
C |
T |
15: 58,315,080 (GRCm39) |
T589M |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,147,479 (GRCm39) |
N3921I |
probably damaging |
Het |
| Gm10188 |
A |
G |
1: 132,157,037 (GRCm39) |
|
probably benign |
Het |
| Grid2ip |
A |
G |
5: 143,376,863 (GRCm39) |
E976G |
probably benign |
Het |
| Hapln3 |
G |
T |
7: 78,771,521 (GRCm39) |
Q123K |
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,450,329 (GRCm39) |
P128S |
possibly damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,245 (GRCm39) |
I249F |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,444 (GRCm39) |
H606L |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,451,155 (GRCm39) |
Y418C |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,313,601 (GRCm39) |
A565E |
probably benign |
Het |
| Minar1 |
T |
G |
9: 89,485,155 (GRCm39) |
I81L |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,505 (GRCm39) |
S844P |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,320,297 (GRCm39) |
V240I |
probably benign |
Het |
| Notch2 |
T |
A |
3: 98,009,748 (GRCm39) |
C558* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,298,007 (GRCm39) |
H185Q |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,451 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
T |
G |
2: 88,292,070 (GRCm39) |
Y148D |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,924,107 (GRCm39) |
I58V |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,323,312 (GRCm39) |
I257N |
possibly damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,740,630 (GRCm39) |
T2156S |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,797,888 (GRCm39) |
|
probably benign |
Het |
| Ppp3ca |
C |
A |
3: 136,503,573 (GRCm39) |
H49N |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,505,626 (GRCm39) |
L1100I |
probably damaging |
Het |
| Ptpn21 |
A |
C |
12: 98,655,891 (GRCm39) |
|
probably benign |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,503,285 (GRCm39) |
Q791L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,035,148 (GRCm39) |
R1966H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,763,854 (GRCm39) |
Q1404L |
possibly damaging |
Het |
| Reln |
C |
A |
5: 22,090,546 (GRCm39) |
M3437I |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,995,700 (GRCm39) |
F67L |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,137,041 (GRCm39) |
|
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,529,075 (GRCm39) |
|
probably null |
Het |
| Slc9a2 |
A |
G |
1: 40,802,762 (GRCm39) |
E604G |
probably benign |
Het |
| Sod3 |
T |
G |
5: 52,525,348 (GRCm39) |
S16A |
possibly damaging |
Het |
| Uggt2 |
T |
C |
14: 119,319,211 (GRCm39) |
I270M |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,367,487 (GRCm39) |
I410N |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,184,043 (GRCm39) |
S1449N |
probably damaging |
Het |
| Usp29 |
A |
T |
7: 6,964,633 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,649 (GRCm39) |
F135L |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,232,890 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,725,202 (GRCm39) |
|
probably null |
Het |
| Zfp955a |
A |
T |
17: 33,461,426 (GRCm39) |
C235* |
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation