Incidental Mutation 'R0579:Stk33'
| ID |
56357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk33
|
| Ensembl Gene |
ENSMUSG00000031027 |
| Gene Name |
serine/threonine kinase 33 |
| Synonyms |
4921505G21Rik |
| MMRRC Submission |
038769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0579 (G1)
|
| Quality Score |
105 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108878430-109038288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108924904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 184
(V184I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090414]
[ENSMUST00000106745]
[ENSMUST00000121378]
[ENSMUST00000121748]
[ENSMUST00000141210]
|
| AlphaFold |
Q924X7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090414
AA Change: V307I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087897
Gene: ENSMUSG00000031027
AA Change: V307I
| 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 damaging
Transcript: ENSMUST00000106745
AA Change: V307I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102356
Gene: ENSMUSG00000031027
AA Change: V307I
| 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 damaging
Transcript: ENSMUST00000121378
AA Change: V184I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112560
Gene: ENSMUSG00000031027
AA Change: V184I
| 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 damaging
Transcript: ENSMUST00000121748
AA Change: V307I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112515
Gene: ENSMUSG00000031027
AA Change: V307I
| 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
|
| Meta Mutation Damage Score |
0.3325 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,584,915 (GRCm39) |
D340G |
possibly damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
| F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
| Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
| Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
| Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Hmgcs2 |
A |
T |
3: 98,198,264 (GRCm39) |
I56F |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
| Kif24 |
G |
A |
4: 41,393,706 (GRCm39) |
P1056S |
probably damaging |
Het |
| L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
| Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,518,106 (GRCm39) |
C167* |
probably null |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,510,115 (GRCm39) |
D406E |
possibly damaging |
Het |
| Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
| Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
| Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
| Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
| Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
probably benign |
Het |
|
| Other mutations in Stk33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Stk33
|
APN |
7 |
108,928,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTAGCGCAAAGCAAAACTGAACG -3'
(R):5'- ATTCGGCATCTGCTGTTGGCTC -3'
Sequencing Primer
(F):5'- AATACTTAGGAGGTGATTCTGAGGC -3'
(R):5'- TTCTTGTTCGCTCCAGAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation