Incidental Mutation 'R7939:Taok3'
| ID |
648932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
045985-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117331902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 40
(F40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111978]
[ENSMUST00000125738]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092889
AA Change: F40L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: F40L
| 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: ENSMUST00000111978
AA Change: F40L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: F40L
| 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
AA Change: F40L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117841
Gene: ENSMUSG00000061288
AA Change: F40L
| 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 |
probably benign
Transcript: ENSMUST00000145640
AA Change: F40L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: F40L
| 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: F40L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: F40L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,275,433 (GRCm39) |
I415T |
probably damaging |
Het |
| Ackr3 |
A |
G |
1: 90,142,287 (GRCm39) |
S249G |
probably benign |
Het |
| Adgre1 |
G |
T |
17: 57,756,938 (GRCm39) |
A732S |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,448 (GRCm39) |
L4244* |
probably null |
Het |
| Aldh3a2 |
C |
A |
11: 61,115,424 (GRCm39) |
C511F |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,617,812 (GRCm39) |
H2013Q |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,740,206 (GRCm39) |
|
probably null |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Chtf18 |
A |
T |
17: 25,941,111 (GRCm39) |
I629N |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,439,158 (GRCm39) |
Y33C |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,616,513 (GRCm39) |
R71G |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,364 (GRCm39) |
N66K |
probably damaging |
Het |
| Cysltr2 |
C |
T |
14: 73,267,399 (GRCm39) |
V104I |
possibly damaging |
Het |
| Dnai4 |
G |
A |
4: 102,953,798 (GRCm39) |
Q134* |
probably null |
Het |
| Dnm3 |
C |
T |
1: 162,123,165 (GRCm39) |
V460I |
possibly damaging |
Het |
| Ecel1 |
C |
T |
1: 87,077,256 (GRCm39) |
V651I |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,560,601 (GRCm39) |
R522C |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,487,983 (GRCm39) |
L70P |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,093 (GRCm39) |
Y510H |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,360 (GRCm39) |
V204A |
probably benign |
Het |
| Gm29394 |
T |
C |
15: 57,912,046 (GRCm39) |
K53E |
unknown |
Het |
| Gm39115 |
T |
C |
7: 141,689,768 (GRCm39) |
T2A |
unknown |
Het |
| Helz2 |
A |
G |
2: 180,879,543 (GRCm39) |
W692R |
probably damaging |
Het |
| Htra2 |
A |
T |
6: 83,028,545 (GRCm39) |
Y428N |
probably damaging |
Het |
| Khdrbs2 |
T |
A |
1: 32,212,056 (GRCm39) |
S20T |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,643,427 (GRCm39) |
Y217* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,287,668 (GRCm39) |
S136T |
probably benign |
Het |
| Mesp1 |
C |
T |
7: 79,442,734 (GRCm39) |
W181* |
probably null |
Het |
| Mtch1 |
A |
C |
17: 29,559,806 (GRCm39) |
S158A |
probably damaging |
Het |
| Mtmr10 |
C |
A |
7: 63,963,899 (GRCm39) |
S211R |
probably benign |
Het |
| Mtmr9 |
C |
A |
14: 63,771,973 (GRCm39) |
Q204H |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,097,182 (GRCm39) |
N43D |
|
Het |
| Myom3 |
G |
T |
4: 135,534,589 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,076,073 (GRCm39) |
D5903G |
probably damaging |
Het |
| Niban1 |
T |
G |
1: 151,581,775 (GRCm39) |
L457R |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,268,105 (GRCm39) |
V342A |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,012,933 (GRCm39) |
S421R |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,481 (GRCm39) |
I111V |
probably benign |
Het |
| Or5p55 |
T |
A |
7: 107,566,986 (GRCm39) |
C127* |
probably null |
Het |
| Oxa1l |
T |
C |
14: 54,604,876 (GRCm39) |
C270R |
probably benign |
Het |
| Pcdha3 |
T |
A |
18: 37,080,933 (GRCm39) |
N558K |
probably damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,109,063 (GRCm39) |
V696A |
possibly damaging |
Het |
| Pigl |
T |
C |
11: 62,349,506 (GRCm39) |
L74P |
probably damaging |
Het |
| Plch2 |
G |
T |
4: 155,087,235 (GRCm39) |
R339S |
possibly damaging |
Het |
| Prdm11 |
G |
T |
2: 92,843,074 (GRCm39) |
D128E |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,143,411 (GRCm39) |
T415A |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,295,009 (GRCm39) |
W400R |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,607,407 (GRCm39) |
Y13C |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,581,919 (GRCm39) |
M355I |
probably benign |
Het |
| Slc24a1 |
T |
G |
9: 64,835,648 (GRCm39) |
E826D |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,299,519 (GRCm39) |
T190A |
probably damaging |
Het |
| Tmem220 |
C |
A |
11: 66,920,850 (GRCm39) |
T85K |
probably damaging |
Het |
| Traip |
T |
C |
9: 107,833,077 (GRCm39) |
F38L |
probably benign |
Het |
| Tspan1 |
A |
T |
4: 116,024,209 (GRCm39) |
I18N |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,981,945 (GRCm39) |
D40E |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,542,737 (GRCm39) |
Y33416* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,576,105 (GRCm39) |
D24929E |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,705 (GRCm39) |
S193T |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,651 (GRCm39) |
W300R |
probably damaging |
Het |
| Vps13a |
C |
T |
19: 16,718,155 (GRCm39) |
V522M |
possibly damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,677 (GRCm39) |
R232L |
probably damaging |
Het |
| Wtap |
A |
T |
17: 13,200,683 (GRCm39) |
Y33* |
probably null |
Het |
| Zc3h10 |
A |
T |
10: 128,380,376 (GRCm39) |
V327E |
probably damaging |
Het |
| Zfp658 |
T |
C |
7: 43,224,301 (GRCm39) |
S859P |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
Het |
| Zfp980 |
A |
T |
4: 145,428,582 (GRCm39) |
H437L |
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 |
|
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'- ATCGTCATCAAAACAGTGTGC -3'
(R):5'- CCAGGAAACACATGGGACTC -3'
Sequencing Primer
(F):5'- CGTCATCAAAACAGTGTGCTAGAAAG -3'
(R):5'- GGAAACACATGGGACTCTACTTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation