Incidental Mutation 'R7308:Taok3'
| ID |
567384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
045323-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 117338216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 91
(Y91*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111978]
[ENSMUST00000125738]
[ENSMUST00000127814]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092889
AA Change: Y91*
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: Y91*
| 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 null
Transcript: ENSMUST00000111978
AA Change: Y91*
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: Y91*
| 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 null
Transcript: ENSMUST00000125738
AA Change: Y91*
|
| SMART Domains |
Protein: ENSMUSP00000117841
Gene: ENSMUSG00000061288
AA Change: Y91*
| 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: ENSMUST00000127814
|
| SMART Domains |
Protein: ENSMUSP00000119998
Gene: ENSMUSG00000061288
| 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 null
Transcript: ENSMUST00000145640
AA Change: Y91*
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: Y91*
| 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 null
Transcript: ENSMUST00000179276
AA Change: Y91*
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: Y91*
| 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: 99.6%
- 20x: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,022,993 (GRCm39) |
I43T |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,953 (GRCm39) |
Q1175* |
probably null |
Het |
| Aqr |
G |
A |
2: 113,934,543 (GRCm39) |
A1366V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,392 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
A |
6: 136,542,087 (GRCm39) |
M607K |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,795,464 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,302,142 (GRCm39) |
V279E |
probably benign |
Het |
| Cd96 |
C |
T |
16: 45,892,097 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
G |
A |
14: 67,932,440 (GRCm39) |
P488S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,682,041 (GRCm39) |
V185A |
possibly damaging |
Het |
| Col4a2 |
T |
G |
8: 11,456,856 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,184,955 (GRCm39) |
R379G |
possibly damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,395 (GRCm39) |
S29G |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,959,010 (GRCm39) |
S2958P |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,631,596 (GRCm39) |
D4431G |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,206,015 (GRCm39) |
H84L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,733,950 (GRCm39) |
|
probably null |
Het |
| Fam178b |
G |
T |
1: 36,698,488 (GRCm39) |
Q78K |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,931 (GRCm39) |
N589S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,956,429 (GRCm39) |
H132Y |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,781,164 (GRCm39) |
R22G |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,755,669 (GRCm39) |
D617G |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,905,873 (GRCm39) |
D5E |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,057,977 (GRCm39) |
L304P |
probably damaging |
Het |
| Hmox1 |
T |
A |
8: 75,823,647 (GRCm39) |
I105N |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,469,866 (GRCm39) |
S38P |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,157,930 (GRCm39) |
S558P |
possibly damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,224,730 (GRCm39) |
H497L |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,381,003 (GRCm39) |
D1022N |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,475 (GRCm39) |
F479S |
possibly damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,273 (GRCm39) |
V203A |
probably benign |
Het |
| Lct |
G |
T |
1: 128,246,824 (GRCm39) |
P233Q |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,164,859 (GRCm39) |
D773G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,582,680 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
A |
T |
3: 100,527,421 (GRCm39) |
L333Q |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,899,359 (GRCm39) |
S1800R |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,998,452 (GRCm39) |
C118W |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,130,740 (GRCm39) |
D35V |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Or11g24 |
G |
A |
14: 50,662,722 (GRCm39) |
V249I |
possibly damaging |
Het |
| Or2y1c |
G |
A |
11: 49,360,754 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,736,175 (GRCm39) |
R217H |
possibly damaging |
Het |
| Pcsk4 |
G |
A |
10: 80,159,007 (GRCm39) |
P462L |
probably benign |
Het |
| Pdia5 |
T |
G |
16: 35,276,879 (GRCm39) |
K96N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,074 (GRCm39) |
Y707C |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,579,806 (GRCm39) |
N447Y |
unknown |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,397 (GRCm39) |
L695P |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,386,125 (GRCm39) |
A669V |
probably benign |
Het |
| Rdx |
A |
T |
9: 51,980,170 (GRCm39) |
K254N |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,705,294 (GRCm39) |
S95P |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,534,006 (GRCm39) |
S1118T |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,199,287 (GRCm39) |
P698L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,801,602 (GRCm39) |
E2338G |
probably benign |
Het |
| Tbc1d31 |
C |
T |
15: 57,816,212 (GRCm39) |
L649F |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,872 (GRCm39) |
T223A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,864,710 (GRCm39) |
I939F |
possibly damaging |
Het |
| Trav17 |
T |
A |
14: 54,044,436 (GRCm39) |
Y69N |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,388,388 (GRCm39) |
D16G |
probably benign |
Het |
| Upf2 |
T |
A |
2: 5,978,329 (GRCm39) |
Y398N |
unknown |
Het |
| Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm39) |
T180A |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,817,672 (GRCm39) |
I773N |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,041,080 (GRCm39) |
M264K |
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 |
|
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 |
|
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'- TCCATCTGACACGGGAAAAGAG -3'
(R):5'- GACCTGGCACTGATCCTATG -3'
Sequencing Primer
(F):5'- CGGGAAAAGAGATGTATGCATGTATC -3'
(R):5'- GACCTGGCACTGATCCTATGGAATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation