Incidental Mutation 'R8989:Taok3'
| ID |
684285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
068821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117379227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 421
(S421P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111975]
[ENSMUST00000111978]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092889
AA Change: S421P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: S421P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107606
Gene: ENSMUSG00000061288
| 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: S421P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: S421P
| 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
AA Change: S421P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: S421P
| 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: S421P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: S421P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,760,724 (GRCm39) |
I1260M |
probably benign |
Het |
| A1cf |
T |
A |
19: 31,904,556 (GRCm39) |
F273Y |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,655,231 (GRCm39) |
W45R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,588,948 (GRCm39) |
E460G |
probably damaging |
Het |
| Ago1 |
T |
A |
4: 126,357,583 (GRCm39) |
T31S |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,298,191 (GRCm39) |
T110S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,927,654 (GRCm39) |
F188S |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,180 (GRCm39) |
P38S |
probably benign |
Het |
| Astn2 |
A |
T |
4: 65,499,890 (GRCm39) |
C1000S |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,269 (GRCm39) |
C1132* |
probably null |
Het |
| Atp7b |
A |
T |
8: 22,510,911 (GRCm39) |
S527T |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,025 (GRCm39) |
T763I |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,954,783 (GRCm39) |
L118P |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,696,250 (GRCm39) |
E589G |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,440,015 (GRCm39) |
D630G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,383,458 (GRCm39) |
T447I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,912,059 (GRCm39) |
L1227S |
probably damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,310 (GRCm39) |
E29* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,962,196 (GRCm39) |
Q269L |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fancc |
G |
T |
13: 63,548,090 (GRCm39) |
L70M |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,959,425 (GRCm39) |
M1041K |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,663,446 (GRCm39) |
V1014A |
possibly damaging |
Het |
| Galnt1 |
C |
T |
18: 24,402,567 (GRCm39) |
T308I |
possibly damaging |
Het |
| Garre1 |
T |
C |
7: 33,956,869 (GRCm39) |
Q332R |
probably damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,357 (GRCm39) |
V27D |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,536,822 (GRCm39) |
V78A |
probably damaging |
Het |
| Hexd |
T |
A |
11: 121,109,136 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,960 (GRCm39) |
T479A |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,544 (GRCm39) |
D711G |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,912 (GRCm39) |
F61Y |
probably damaging |
Het |
| Insrr |
T |
A |
3: 87,722,664 (GRCm39) |
N1295K |
probably damaging |
Het |
| Kif5b |
T |
A |
18: 6,209,021 (GRCm39) |
R914W |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,708,660 (GRCm39) |
T113A |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,276,746 (GRCm39) |
D419G |
probably damaging |
Het |
| Naf1 |
A |
G |
8: 67,313,628 (GRCm39) |
T204A |
possibly damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,587 (GRCm39) |
T201A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,548,208 (GRCm39) |
N980K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,464 (GRCm39) |
K352E |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,346 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,542 (GRCm39) |
F257L |
probably benign |
Het |
| Or2d3c |
T |
A |
7: 106,526,366 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,476 (GRCm39) |
T424A |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Pramel28 |
C |
A |
4: 143,691,770 (GRCm39) |
A318S |
probably benign |
Het |
| Psma8 |
T |
A |
18: 14,890,404 (GRCm39) |
D181E |
probably benign |
Het |
| Rhpn2 |
C |
A |
7: 35,053,446 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
G |
T |
13: 34,022,967 (GRCm39) |
H139N |
possibly damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,533,642 (GRCm39) |
I394F |
probably damaging |
Het |
| Spmip5 |
T |
C |
19: 58,776,153 (GRCm39) |
E100G |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
T |
G |
6: 42,377,828 (GRCm39) |
D219E |
probably damaging |
Het |
| Tcaf1 |
G |
A |
6: 42,663,707 (GRCm39) |
R58C |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,383 (GRCm39) |
Y2401* |
probably null |
Het |
| Tut1 |
T |
C |
19: 8,937,116 (GRCm39) |
V200A |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,509,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,473 (GRCm39) |
I158L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,134 (GRCm39) |
H19L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,828,475 (GRCm39) |
M795T |
probably benign |
Het |
| Zc3h12a |
C |
A |
4: 125,014,743 (GRCm39) |
R247L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
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 |
|
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 |
|
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'- TTTATACCGTGGGAGCTGC -3'
(R):5'- GAGACAACATCCCTGGCTTC -3'
Sequencing Primer
(F):5'- GCTGAACTATGCATTTCAAACAGCG -3'
(R):5'- GAGACAACATCCCTGGCTTCTTTTC -3'
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| Posted On |
2021-10-11 |
Incidental Mutation