Incidental Mutation 'R7439:Taok3'
| ID |
576813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok3
|
| Ensembl Gene |
ENSMUSG00000061288 |
| Gene Name |
TAO kinase 3 |
| Synonyms |
2900006A08Rik, A430105I05Rik |
| MMRRC Submission |
045515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
117258194-117413284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117388974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 460
(Q460K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092889]
[ENSMUST00000111975]
[ENSMUST00000111978]
[ENSMUST00000145640]
[ENSMUST00000179276]
|
| AlphaFold |
Q8BYC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092889
AA Change: Q460K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090565
Gene: ENSMUSG00000061288
AA Change: Q460K
| 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 damaging
Transcript: ENSMUST00000111978
AA Change: Q460K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107609
Gene: ENSMUSG00000061288
AA Change: Q460K
| 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: ENSMUST00000145640
AA Change: Q460K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116920
Gene: ENSMUSG00000061288
AA Change: Q460K
| 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: Q460K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136750
Gene: ENSMUSG00000061288
AA Change: Q460K
| 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: 99.8%
- 20x: 99.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
C |
4: 144,504,332 (GRCm39) |
D273G |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,333,703 (GRCm39) |
V542A |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
| Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
| Arpc5 |
T |
C |
1: 152,647,187 (GRCm39) |
S97P |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,604,931 (GRCm39) |
F119L |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
| Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
| B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
| Bcl3 |
T |
C |
7: 19,556,536 (GRCm39) |
T23A |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,853 (GRCm39) |
K215E |
possibly damaging |
Het |
| Coa4 |
T |
A |
7: 100,188,478 (GRCm39) |
C64S |
probably damaging |
Het |
| Dcun1d4 |
T |
C |
5: 73,648,879 (GRCm39) |
|
probably null |
Het |
| Dnaaf5 |
T |
G |
5: 139,151,868 (GRCm39) |
C506W |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,900,931 (GRCm39) |
Y345H |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,621,624 (GRCm39) |
N1024S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,360,478 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
| Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
| Eif5b |
A |
C |
1: 38,090,718 (GRCm39) |
D1192A |
probably benign |
Het |
| Epn2 |
A |
T |
11: 61,437,674 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
T |
A |
5: 76,693,195 (GRCm39) |
N360K |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
| Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
| Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
| Hapln3 |
T |
A |
7: 78,767,017 (GRCm39) |
T341S |
probably benign |
Het |
| Lamb3 |
C |
A |
1: 193,014,474 (GRCm39) |
D544E |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,578,349 (GRCm39) |
S390T |
probably benign |
Het |
| Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,380 (GRCm39) |
M791V |
probably benign |
Het |
| Lyg2 |
A |
G |
1: 37,950,218 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Lyz3 |
G |
A |
10: 117,074,602 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,402,300 (GRCm39) |
M172K |
probably damaging |
Het |
| Or2l13b |
T |
G |
16: 19,349,650 (GRCm39) |
S7R |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,183 (GRCm39) |
I149V |
probably benign |
Het |
| Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
| Pcyt2 |
A |
T |
11: 120,502,209 (GRCm39) |
Y308N |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,689,104 (GRCm39) |
S141P |
probably damaging |
Het |
| Pigh |
G |
A |
12: 79,136,324 (GRCm39) |
P24S |
probably benign |
Het |
| Plekhg3 |
A |
G |
12: 76,623,259 (GRCm39) |
D834G |
probably damaging |
Het |
| Plekhg5 |
T |
A |
4: 152,198,392 (GRCm39) |
V860D |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,177,399 (GRCm39) |
I170T |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
| Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
| Rilpl2 |
T |
A |
5: 124,601,851 (GRCm39) |
H196L |
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,422,187 (GRCm39) |
Y489C |
probably damaging |
Het |
| Sis |
G |
A |
3: 72,816,374 (GRCm39) |
H1531Y |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,220,064 (GRCm39) |
V467A |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,117 (GRCm39) |
Q215R |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,266,394 (GRCm39) |
A594V |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
| Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
| Tada2a |
A |
T |
11: 84,017,812 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,193,602 (GRCm39) |
V934E |
probably damaging |
Het |
| Twf2 |
A |
G |
9: 106,091,597 (GRCm39) |
E268G |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
| Vmn2r35 |
T |
A |
7: 7,820,013 (GRCm39) |
N86Y |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,832,426 (GRCm39) |
S2833P |
|
Het |
| Xrn1 |
T |
C |
9: 95,933,682 (GRCm39) |
S1584P |
probably benign |
Het |
| Zfp354b |
T |
C |
11: 50,813,224 (GRCm39) |
Y567C |
probably damaging |
Het |
| Zfp52 |
A |
T |
17: 21,781,132 (GRCm39) |
R327* |
probably null |
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 |
|
|
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'- AGCAACATCTGGAGGCTTGG -3'
(R):5'- ATGATGTCAGATGGGACCCC -3'
Sequencing Primer
(F):5'- TTGGAAGCCACAGTGTCC -3'
(R):5'- ATCTCAGCCTTCAGCTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation