Incidental Mutation 'R1140:Taok3'
| ID |
102029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
039213-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1140 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117366118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 231
(S231P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111978]
[ENSMUST00000127814]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092889
AA Change: S390P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: S390P
| 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: ENSMUST00000111978
AA Change: S390P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: S390P
| 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 |
possibly damaging
Transcript: ENSMUST00000127814
AA Change: S231P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119998
Gene: ENSMUSG00000061288
AA Change: S231P
| 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 |
possibly damaging
Transcript: ENSMUST00000145640
AA Change: S390P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: S390P
| 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: S390P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: S390P
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
T |
A |
8: 120,876,874 (GRCm39) |
S161T |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,981,609 (GRCm39) |
D964E |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,729 (GRCm39) |
I215V |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,473,096 (GRCm39) |
I1656F |
possibly damaging |
Het |
| Aurka |
T |
C |
2: 172,199,149 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,752 (GRCm39) |
K214E |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,749,160 (GRCm39) |
T209S |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,953,643 (GRCm39) |
M363T |
possibly damaging |
Het |
| Dsc2 |
C |
A |
18: 20,165,269 (GRCm39) |
K901N |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,756 (GRCm39) |
H370L |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,039,868 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
C |
T |
2: 130,458,135 (GRCm39) |
V152I |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,994,258 (GRCm39) |
R337G |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,805,378 (GRCm39) |
Y566N |
probably damaging |
Het |
| Gsc |
A |
T |
12: 104,439,361 (GRCm39) |
M5K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,733 (GRCm39) |
E1893G |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,210,339 (GRCm39) |
T1789A |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,648,353 (GRCm39) |
T884A |
possibly damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,680 (GRCm39) |
M158L |
probably benign |
Het |
| Parg |
T |
C |
14: 32,018,200 (GRCm39) |
S432P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,111,420 (GRCm39) |
V162A |
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,685,630 (GRCm39) |
E43K |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,858,949 (GRCm39) |
V361I |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,739 (GRCm39) |
N2981I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,108,429 (GRCm39) |
V374A |
possibly damaging |
Het |
| Xxylt1 |
T |
A |
16: 30,826,666 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation