Incidental Mutation 'R1977:Taok3'
| ID |
221831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
039990-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1977 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117403989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 721
(K721N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111975]
[ENSMUST00000111978]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092889
AA Change: K721N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: K721N
| 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: K261N
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288
AA Change: K261N
| 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 damaging
Transcript: ENSMUST00000111978
AA Change: K721N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: K721N
| 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 damaging
Transcript: ENSMUST00000179276
AA Change: K721N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: K721N
| 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 |
0.0837 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (66/67) |
| 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 |
|---|
| Acsf3 |
G |
T |
8: 123,508,272 (GRCm39) |
C256F |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,605,789 (GRCm39) |
V647D |
possibly damaging |
Het |
| AI593442 |
A |
T |
9: 52,589,492 (GRCm39) |
S28R |
probably damaging |
Het |
| Akr1c21 |
G |
C |
13: 4,624,211 (GRCm39) |
G22R |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,402,369 (GRCm39) |
W458R |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,273 (GRCm39) |
R185L |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,856,652 (GRCm39) |
I67F |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,554 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,160,019 (GRCm39) |
Y56H |
probably damaging |
Het |
| Carf |
A |
T |
1: 60,185,295 (GRCm39) |
I447F |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,433,627 (GRCm39) |
N162S |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,535,347 (GRCm39) |
E103G |
probably benign |
Het |
| Cyp2c40 |
T |
C |
19: 39,766,485 (GRCm39) |
D370G |
probably damaging |
Het |
| Dhrs2 |
T |
A |
14: 55,472,112 (GRCm39) |
M1K |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,003,417 (GRCm39) |
E810G |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,652,416 (GRCm39) |
I84N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,238 (GRCm39) |
K1185* |
probably null |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,129 (GRCm39) |
M115K |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,947,005 (GRCm39) |
L505* |
probably null |
Het |
| Fbxw25 |
T |
A |
9: 109,481,924 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,652 (GRCm39) |
T124A |
probably damaging |
Het |
| Hopx |
T |
C |
5: 77,265,463 (GRCm39) |
|
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,574,620 (GRCm39) |
S89G |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
| Izumo4 |
A |
G |
10: 80,538,955 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,866,796 (GRCm39) |
|
probably null |
Het |
| Lcorl |
A |
C |
5: 45,932,762 (GRCm39) |
S123R |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,842,273 (GRCm39) |
I729F |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,110 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,161,822 (GRCm39) |
S912T |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,641,814 (GRCm39) |
V556I |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,135,263 (GRCm39) |
I489F |
possibly damaging |
Het |
| Nfatc2 |
G |
A |
2: 168,346,379 (GRCm39) |
T905I |
possibly damaging |
Het |
| Nme6 |
G |
A |
9: 109,664,409 (GRCm39) |
R6Q |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,133 (GRCm39) |
S323P |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,056,539 (GRCm39) |
R364S |
probably damaging |
Het |
| Obox7 |
A |
T |
7: 14,398,323 (GRCm39) |
D79V |
probably damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,863,698 (GRCm39) |
G96D |
probably benign |
Het |
| Or2a51 |
T |
A |
6: 43,178,914 (GRCm39) |
V112D |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,449 (GRCm39) |
I208F |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
| Polk |
T |
C |
13: 96,625,736 (GRCm39) |
E436G |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,465 (GRCm39) |
V190A |
probably benign |
Het |
| Rplp2 |
T |
C |
7: 141,028,694 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,367,997 (GRCm39) |
S670T |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
| Sh2d2a |
C |
T |
3: 87,759,123 (GRCm39) |
Q242* |
probably null |
Het |
| Sh3pxd2b |
A |
C |
11: 32,372,138 (GRCm39) |
N435T |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Stx17 |
G |
A |
4: 48,181,553 (GRCm39) |
V241M |
probably benign |
Het |
| Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
G |
A |
2: 120,204,985 (GRCm39) |
A377V |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,576,427 (GRCm39) |
T6M |
unknown |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,707,162 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,185,270 (GRCm39) |
C888S |
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 |
|
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 |
PCR Primer
(F):5'- AGTTCACCCATTTGCAATCAC -3'
(R):5'- CTTGAGAGGCCATCATCTCG -3'
Sequencing Primer
(F):5'- AGAGCCCTGGTAGAGCTAC -3'
(R):5'- GAGAGGCCATCATCTCGTTTATAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation