Incidental Mutation 'R2471:Taok2'
| ID |
253090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok2
|
| Ensembl Gene |
ENSMUSG00000059981 |
| Gene Name |
TAO kinase 2 |
| Synonyms |
1110033K02Rik, TAO1, TAO2, MAP3K17, PSK1 |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126464850-126483875 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126474272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 319
(E319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071268]
[ENSMUST00000117394]
[ENSMUST00000214525]
|
| AlphaFold |
Q6ZQ29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071268
AA Change: E319G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
AA Change: E319G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
281 |
6.42e-86 |
SMART |
|
low complexity region
|
319 |
333 |
N/A |
INTRINSIC |
|
coiled coil region
|
373 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
465 |
N/A |
INTRINSIC |
|
coiled coil region
|
493 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
coiled coil region
|
579 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
639 |
N/A |
INTRINSIC |
|
coiled coil region
|
821 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
992 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117394
AA Change: E319G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981
AA Change: E319G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
281 |
6.42e-86 |
SMART |
|
low complexity region
|
319 |
333 |
N/A |
INTRINSIC |
|
coiled coil region
|
373 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
465 |
N/A |
INTRINSIC |
|
coiled coil region
|
493 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
coiled coil region
|
579 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
939 |
N/A |
INTRINSIC |
|
transmembrane domain
|
962 |
984 |
N/A |
INTRINSIC |
|
transmembrane domain
|
991 |
1013 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1017 |
1039 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1052 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1197 |
1215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214525
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size. Mice homozygous for a targeted allele exhibit resistance to the ataxic effect of alcohol, reduced blood ethanol content, increased alcohol consumption, impaired CPP for alcohol, and impaired habituation in an open field. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
possibly damaging |
Het |
|
| Other mutations in Taok2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Taok2
|
APN |
7 |
126,471,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01153:Taok2
|
APN |
7 |
126,470,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02689:Taok2
|
APN |
7 |
126,475,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Taok2
|
UTSW |
7 |
126,465,583 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0601:Taok2
|
UTSW |
7 |
126,478,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Taok2
|
UTSW |
7 |
126,474,323 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1456:Taok2
|
UTSW |
7 |
126,479,313 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1643:Taok2
|
UTSW |
7 |
126,475,110 (GRCm39) |
unclassified |
probably benign |
|
|
R2084:Taok2
|
UTSW |
7 |
126,469,363 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2212:Taok2
|
UTSW |
7 |
126,470,030 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3162:Taok2
|
UTSW |
7 |
126,474,347 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3162:Taok2
|
UTSW |
7 |
126,474,347 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3412:Taok2
|
UTSW |
7 |
126,470,030 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4085:Taok2
|
UTSW |
7 |
126,473,897 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4440:Taok2
|
UTSW |
7 |
126,465,693 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4775:Taok2
|
UTSW |
7 |
126,469,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4787:Taok2
|
UTSW |
7 |
126,467,304 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4788:Taok2
|
UTSW |
7 |
126,467,304 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4791:Taok2
|
UTSW |
7 |
126,467,304 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4927:Taok2
|
UTSW |
7 |
126,475,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Taok2
|
UTSW |
7 |
126,479,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Taok2
|
UTSW |
7 |
126,469,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Taok2
|
UTSW |
7 |
126,470,164 (GRCm39) |
missense |
probably benign |
|
|
R6605:Taok2
|
UTSW |
7 |
126,477,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Taok2
|
UTSW |
7 |
126,471,047 (GRCm39) |
splice site |
probably null |
|
|
R6863:Taok2
|
UTSW |
7 |
126,471,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6962:Taok2
|
UTSW |
7 |
126,466,088 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6967:Taok2
|
UTSW |
7 |
126,469,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7127:Taok2
|
UTSW |
7 |
126,466,326 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7187:Taok2
|
UTSW |
7 |
126,471,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7307:Taok2
|
UTSW |
7 |
126,465,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Taok2
|
UTSW |
7 |
126,470,260 (GRCm39) |
missense |
probably benign |
|
|
R7429:Taok2
|
UTSW |
7 |
126,469,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7497:Taok2
|
UTSW |
7 |
126,474,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Taok2
|
UTSW |
7 |
126,470,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9402:Taok2
|
UTSW |
7 |
126,469,400 (GRCm39) |
missense |
|
|
|
R9542:Taok2
|
UTSW |
7 |
126,466,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTGGTCAGTGTCCCTG -3'
(R):5'- CCTCAGGTTAGGAGATGCTG -3'
Sequencing Primer
(F):5'- AGGTTCTGCCTCCTGGGAAC -3'
(R):5'- CCTCAGGTTAGGAGATGCTGAAAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation