Incidental Mutation 'R1424:Taok1'
| ID |
161233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taok1
|
| Ensembl Gene |
ENSMUSG00000017291 |
| Gene Name |
TAO kinase 1 |
| Synonyms |
2810468K05Rik, D130018F14Rik |
| MMRRC Submission |
039480-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.441)
|
| Stock # |
R1424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77419988-77498641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 77440190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 606
(R606S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017435]
[ENSMUST00000058496]
|
| AlphaFold |
Q5F2E8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017435
AA Change: R606S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000017435
Gene: ENSMUSG00000017291
AA Change: R606S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
281 |
3.26e-87 |
SMART |
|
low complexity region
|
327 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
651 |
N/A |
INTRINSIC |
|
coiled coil region
|
792 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058496
AA Change: R606S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000055470
Gene: ENSMUSG00000017291
AA Change: R606S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
281 |
3.26e-87 |
SMART |
|
low complexity region
|
327 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
651 |
N/A |
INTRINSIC |
|
coiled coil region
|
792 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
930 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0630 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
A |
12: 72,939,669 (GRCm39) |
E415* |
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,742,385 (GRCm39) |
A408T |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,506,441 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
T |
9: 21,209,500 (GRCm39) |
I392N |
possibly damaging |
Het |
| Casp2 |
T |
C |
6: 42,253,725 (GRCm39) |
|
probably benign |
Het |
| Cel |
C |
T |
2: 28,449,636 (GRCm39) |
A243T |
probably damaging |
Het |
| Depp1 |
A |
G |
6: 116,628,966 (GRCm39) |
N103S |
possibly damaging |
Het |
| Dgka |
A |
T |
10: 128,569,202 (GRCm39) |
S177T |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,496,544 (GRCm39) |
T836A |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,392 (GRCm39) |
S1444G |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,293,649 (GRCm39) |
D176G |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,497,692 (GRCm39) |
I230T |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,518,309 (GRCm39) |
I328F |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,847,173 (GRCm39) |
L179S |
probably damaging |
Het |
| Fgb |
A |
T |
3: 82,954,070 (GRCm39) |
I56N |
probably damaging |
Het |
| Fmo1 |
C |
T |
1: 162,657,635 (GRCm39) |
R502Q |
probably damaging |
Het |
| Fndc3a |
C |
T |
14: 72,811,811 (GRCm39) |
A340T |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,900,899 (GRCm39) |
Q1429K |
probably benign |
Het |
| Gm3443 |
A |
T |
19: 21,534,959 (GRCm39) |
I75F |
possibly damaging |
Het |
| Gtpbp6 |
C |
T |
5: 110,252,155 (GRCm39) |
|
probably null |
Het |
| Gtsf1 |
A |
T |
15: 103,318,070 (GRCm39) |
Y156* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,522,545 (GRCm39) |
T3452A |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,822 (GRCm39) |
V112E |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,653,048 (GRCm39) |
T256K |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,974,782 (GRCm39) |
V63M |
unknown |
Het |
| Matn3 |
G |
T |
12: 9,011,132 (GRCm39) |
A348S |
possibly damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,121 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,190,594 (GRCm39) |
N175S |
probably damaging |
Het |
| Or11h4 |
A |
T |
14: 50,974,521 (GRCm39) |
F33I |
probably benign |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,415 (GRCm39) |
Q98* |
probably null |
Het |
| Or4k5 |
C |
A |
14: 50,385,922 (GRCm39) |
M136I |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,132 (GRCm39) |
N759K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,415,348 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,906,890 (GRCm39) |
D2284N |
probably damaging |
Het |
| Prdm12 |
C |
T |
2: 31,533,823 (GRCm39) |
R147C |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,382 (GRCm39) |
D824G |
probably benign |
Het |
| Rere |
C |
T |
4: 150,701,495 (GRCm39) |
R1292C |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,671,419 (GRCm39) |
L294* |
probably null |
Het |
| Sbf2 |
A |
T |
7: 109,914,233 (GRCm39) |
C1650S |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,147,621 (GRCm39) |
T1751I |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,787,899 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
A |
7: 143,606,109 (GRCm39) |
D97E |
probably damaging |
Het |
| Tab2 |
A |
C |
10: 7,795,812 (GRCm39) |
S149R |
possibly damaging |
Het |
| Tas2r121 |
A |
G |
6: 132,677,645 (GRCm39) |
L109P |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,829,689 (GRCm39) |
M175V |
probably benign |
Het |
| Tmprss11b |
T |
C |
5: 86,812,832 (GRCm39) |
K155E |
probably benign |
Het |
| Tmtc2 |
G |
T |
10: 105,249,229 (GRCm39) |
T168N |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tsga10ip |
C |
T |
19: 5,440,942 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
A |
G |
6: 121,197,470 (GRCm39) |
N44S |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,558 (GRCm39) |
V590A |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,275,075 (GRCm39) |
|
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,229 (GRCm39) |
Y368* |
probably null |
Het |
|
| Other mutations in Taok1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01598:Taok1
|
APN |
11 |
77,462,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01629:Taok1
|
APN |
11 |
77,429,030 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02198:Taok1
|
APN |
11 |
77,466,503 (GRCm39) |
splice site |
probably benign |
|
|
IGL02392:Taok1
|
APN |
11 |
77,440,178 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02415:Taok1
|
APN |
11 |
77,431,066 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02428:Taok1
|
APN |
11 |
77,440,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02972:Taok1
|
APN |
11 |
77,450,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03200:Taok1
|
APN |
11 |
77,466,478 (GRCm39) |
nonsense |
probably null |
|
|
IGL03203:Taok1
|
APN |
11 |
77,430,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03292:Taok1
|
APN |
11 |
77,430,962 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03351:Taok1
|
APN |
11 |
77,451,154 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7569_taok1_653
|
UTSW |
11 |
77,446,440 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0070:Taok1
|
UTSW |
11 |
77,444,543 (GRCm39) |
missense |
probably benign |
|
|
R0497:Taok1
|
UTSW |
11 |
77,464,630 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0535:Taok1
|
UTSW |
11 |
77,444,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Taok1
|
UTSW |
11 |
77,450,670 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0653:Taok1
|
UTSW |
11 |
77,469,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1249:Taok1
|
UTSW |
11 |
77,462,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Taok1
|
UTSW |
11 |
77,470,626 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2112:Taok1
|
UTSW |
11 |
77,462,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3716:Taok1
|
UTSW |
11 |
77,432,636 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4013:Taok1
|
UTSW |
11 |
77,450,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4058:Taok1
|
UTSW |
11 |
77,440,264 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4831:Taok1
|
UTSW |
11 |
77,444,500 (GRCm39) |
missense |
probably null |
0.34 |
|
R5036:Taok1
|
UTSW |
11 |
77,440,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5917:Taok1
|
UTSW |
11 |
77,451,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6271:Taok1
|
UTSW |
11 |
77,464,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Taok1
|
UTSW |
11 |
77,444,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6860:Taok1
|
UTSW |
11 |
77,432,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6933:Taok1
|
UTSW |
11 |
77,446,479 (GRCm39) |
missense |
probably benign |
|
|
R7139:Taok1
|
UTSW |
11 |
77,462,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Taok1
|
UTSW |
11 |
77,428,814 (GRCm39) |
missense |
probably benign |
|
|
R7305:Taok1
|
UTSW |
11 |
77,432,500 (GRCm39) |
nonsense |
probably null |
|
|
R7340:Taok1
|
UTSW |
11 |
77,470,643 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7508:Taok1
|
UTSW |
11 |
77,436,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7569:Taok1
|
UTSW |
11 |
77,446,440 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7753:Taok1
|
UTSW |
11 |
77,428,725 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8064:Taok1
|
UTSW |
11 |
77,440,130 (GRCm39) |
nonsense |
probably null |
|
|
R8130:Taok1
|
UTSW |
11 |
77,470,659 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8332:Taok1
|
UTSW |
11 |
77,432,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8768:Taok1
|
UTSW |
11 |
77,444,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Taok1
|
UTSW |
11 |
77,470,632 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8775-TAIL:Taok1
|
UTSW |
11 |
77,470,632 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1176:Taok1
|
UTSW |
11 |
77,450,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGAAGGATTTACAGAGTAAGGCATT -3'
(R):5'- CATTCAAGACATTTTGAAagccaggcat -3'
Sequencing Primer
(F):5'- TTACAGAGTAAGGCATTGCTGAAAAC -3'
(R):5'- gagccatctctcaagccc -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation