Incidental Mutation 'R6290:Taok3'
| ID |
508355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
044460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117342433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 137
(Y137C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111978]
[ENSMUST00000125738]
[ENSMUST00000127814]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092889
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: Y137C
| 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: ENSMUST00000111978
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: Y137C
| 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: ENSMUST00000125738
|
| SMART Domains |
Protein: ENSMUSP00000117841
Gene: ENSMUSG00000061288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
24 |
109 |
1.3e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
25 |
108 |
2.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126813
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127814
AA Change: Y34C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119998
Gene: ENSMUSG00000061288
AA Change: Y34C
| 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 damaging
Transcript: ENSMUST00000145640
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: Y137C
| 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 damaging
Transcript: ENSMUST00000179276
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: Y137C
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
T |
A |
1: 173,289,681 (GRCm39) |
I208N |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
C |
10: 69,827,198 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,259,036 (GRCm39) |
E687G |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,890,068 (GRCm39) |
L649* |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,510,836 (GRCm39) |
G437S |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,119,688 (GRCm39) |
G349D |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,744,851 (GRCm39) |
Y315N |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Csrp2 |
T |
C |
10: 110,767,844 (GRCm39) |
C10R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,412 (GRCm39) |
N625D |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,201 (GRCm39) |
N4235S |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,896 (GRCm39) |
C265R |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,028,336 (GRCm39) |
M918T |
probably benign |
Het |
| Duox1 |
C |
A |
2: 122,164,288 (GRCm39) |
T916N |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,691,332 (GRCm39) |
I389F |
probably benign |
Het |
| Eif2ak1 |
T |
A |
5: 143,821,617 (GRCm39) |
V311D |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,220,395 (GRCm39) |
M534K |
probably benign |
Het |
| Gpr182 |
A |
T |
10: 127,586,893 (GRCm39) |
F19L |
probably benign |
Het |
| Ifi214 |
T |
A |
1: 173,356,983 (GRCm39) |
D40V |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,264,351 (GRCm39) |
V121A |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,715,213 (GRCm39) |
S514T |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,013,601 (GRCm39) |
R785H |
possibly damaging |
Het |
| Naga |
T |
G |
15: 82,219,057 (GRCm39) |
D230A |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,230,761 (GRCm39) |
N70D |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,027,216 (GRCm39) |
Y199* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,477,359 (GRCm39) |
K165* |
probably null |
Het |
| Or1j20 |
C |
T |
2: 36,760,448 (GRCm39) |
P290L |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,970,576 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
T |
A |
6: 86,365,881 (GRCm39) |
K444N |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,242,084 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,544,011 (GRCm39) |
I335V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,440,956 (GRCm39) |
S71P |
probably damaging |
Het |
| Psg19 |
C |
T |
7: 18,528,014 (GRCm39) |
R243Q |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,517,769 (GRCm39) |
M382K |
possibly damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,885,106 (GRCm39) |
I478L |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,727,096 (GRCm39) |
N174K |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,465,586 (GRCm39) |
H278L |
possibly damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,910,701 (GRCm39) |
S315T |
probably damaging |
Het |
| Tapbpl |
T |
C |
6: 125,207,679 (GRCm39) |
D49G |
probably benign |
Het |
| Tbr1 |
T |
C |
2: 61,635,394 (GRCm39) |
S115P |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,549,918 (GRCm39) |
T516I |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,741,828 (GRCm39) |
L1351Q |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,815,884 (GRCm39) |
I166T |
probably benign |
Het |
| Tspan8 |
T |
A |
10: 115,663,729 (GRCm39) |
C22S |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,647,321 (GRCm39) |
S813P |
probably benign |
Het |
| U2af2 |
G |
T |
7: 5,078,683 (GRCm39) |
V421L |
probably benign |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,736 (GRCm39) |
S103P |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,873 (GRCm39) |
D911E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,428,809 (GRCm39) |
C486S |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,772 (GRCm39) |
|
probably null |
Het |
| Xirp1 |
T |
G |
9: 119,847,791 (GRCm39) |
E364A |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,057,634 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp385b |
C |
A |
2: 77,280,612 (GRCm39) |
V109F |
possibly 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 |
|
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'- CTCATCCACTGCTGATGCTG -3'
(R):5'- ATGACAGGGTGCAGTCTTTG -3'
Sequencing Primer
(F):5'- ACTGCTGATGCTGTGCAC -3'
(R):5'- CAGTCTTTGCAGGGCTATGG -3'
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| Posted On |
2018-03-15 |
Incidental Mutation