Incidental Mutation 'IGL01137:Stk33'
| ID |
51636 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stk33
|
| Ensembl Gene |
ENSMUSG00000031027 |
| Gene Name |
serine/threonine kinase 33 |
| Synonyms |
4921505G21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
108878430-109038288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108928775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 246
(I246V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090414]
[ENSMUST00000106745]
[ENSMUST00000121378]
[ENSMUST00000121748]
[ENSMUST00000141210]
|
| AlphaFold |
Q924X7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090414
AA Change: I246V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000087897
Gene: ENSMUSG00000031027
AA Change: I246V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
111 |
377 |
4.7e-102 |
SMART |
|
low complexity region
|
399 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106745
AA Change: I246V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102356
Gene: ENSMUSG00000031027
AA Change: I246V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
111 |
377 |
4.7e-102 |
SMART |
|
low complexity region
|
399 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121378
AA Change: I123V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112560
Gene: ENSMUSG00000031027
AA Change: I123V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
2 |
254 |
1.01e-83 |
SMART |
|
low complexity region
|
276 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121748
AA Change: I246V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112515
Gene: ENSMUSG00000031027
AA Change: I246V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
111 |
377 |
4.8e-102 |
SMART |
|
low complexity region
|
399 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141210
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,292,492 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,611,075 (GRCm39) |
T2583A |
probably damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,648 (GRCm39) |
Q431* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,556,521 (GRCm39) |
D5E |
probably benign |
Het |
| Bex1 |
C |
A |
X: 135,115,243 (GRCm39) |
D29Y |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,612,238 (GRCm39) |
T108I |
probably damaging |
Het |
| Cecr2 |
T |
G |
6: 120,738,989 (GRCm39) |
L1211V |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,449,035 (GRCm39) |
|
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,566,065 (GRCm39) |
V198L |
possibly damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,513,684 (GRCm39) |
S208G |
possibly damaging |
Het |
| Ddx46 |
T |
A |
13: 55,817,530 (GRCm39) |
Y718* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,379 (GRCm39) |
I1116T |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,037,689 (GRCm39) |
Y2177H |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,919,486 (GRCm39) |
F661S |
probably damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,569,858 (GRCm39) |
T365I |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,333 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gsta4 |
T |
C |
9: 78,113,204 (GRCm39) |
Y95H |
possibly damaging |
Het |
| Kir3dl1 |
A |
G |
X: 135,427,360 (GRCm39) |
T192A |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,600,825 (GRCm39) |
N640K |
probably benign |
Het |
| Lrch1 |
C |
T |
14: 74,994,532 (GRCm39) |
V691M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,653,742 (GRCm39) |
D1302G |
probably benign |
Het |
| Myo18a |
T |
G |
11: 77,718,655 (GRCm39) |
F935V |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,988,633 (GRCm39) |
E464G |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,695 (GRCm39) |
V290A |
probably benign |
Het |
| Or5ac25 |
A |
C |
16: 59,182,335 (GRCm39) |
M82R |
probably benign |
Het |
| Or5b101 |
A |
T |
19: 13,005,394 (GRCm39) |
F100I |
possibly damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,055 (GRCm39) |
I249N |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,109,612 (GRCm39) |
R39C |
probably damaging |
Het |
| Rps3a3 |
A |
T |
13: 108,807,666 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,801,093 (GRCm39) |
S401N |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,117,674 (GRCm39) |
G289V |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,338,747 (GRCm39) |
H114Q |
probably benign |
Het |
| Tlcd2 |
T |
C |
11: 75,360,337 (GRCm39) |
Y127H |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,737,147 (GRCm39) |
D85N |
possibly damaging |
Het |
| Trbc2 |
T |
C |
6: 41,524,751 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
G |
A |
4: 43,091,291 (GRCm39) |
R39H |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,341,087 (GRCm39) |
L1521P |
probably damaging |
Het |
| Zbtb17 |
T |
A |
4: 141,193,678 (GRCm39) |
C607* |
probably null |
Het |
|
| Other mutations in Stk33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01467:Stk33
|
APN |
7 |
108,928,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01558:Stk33
|
APN |
7 |
108,940,491 (GRCm39) |
intron |
probably benign |
|
|
IGL01775:Stk33
|
APN |
7 |
108,911,574 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0052:Stk33
|
UTSW |
7 |
108,878,876 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0336:Stk33
|
UTSW |
7 |
108,930,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0394:Stk33
|
UTSW |
7 |
108,940,696 (GRCm39) |
missense |
probably benign |
|
|
R0579:Stk33
|
UTSW |
7 |
108,924,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0727:Stk33
|
UTSW |
7 |
108,920,725 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1363:Stk33
|
UTSW |
7 |
108,879,028 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1574:Stk33
|
UTSW |
7 |
108,879,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1574:Stk33
|
UTSW |
7 |
108,879,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2153:Stk33
|
UTSW |
7 |
108,940,527 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4366:Stk33
|
UTSW |
7 |
108,879,002 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4896:Stk33
|
UTSW |
7 |
108,926,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Stk33
|
UTSW |
7 |
108,939,605 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5283:Stk33
|
UTSW |
7 |
108,935,334 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6339:Stk33
|
UTSW |
7 |
108,920,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6547:Stk33
|
UTSW |
7 |
108,920,042 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6717:Stk33
|
UTSW |
7 |
108,926,823 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6894:Stk33
|
UTSW |
7 |
108,935,269 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8975:Stk33
|
UTSW |
7 |
108,935,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Stk33
|
UTSW |
7 |
108,928,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9175:Stk33
|
UTSW |
7 |
108,920,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Stk33
|
UTSW |
7 |
108,940,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9416:Stk33
|
UTSW |
7 |
108,940,689 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Stk33
|
UTSW |
7 |
108,935,266 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2013-06-21 |
Incidental Mutation