Incidental Mutation 'R5544:Rps6ka1'
| ID |
436143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka1
|
| Ensembl Gene |
ENSMUSG00000003644 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
Rsk1 |
| MMRRC Submission |
043102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5544 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133574601-133615108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133599326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003741]
[ENSMUST00000105894]
[ENSMUST00000137486]
[ENSMUST00000157067]
[ENSMUST00000168974]
[ENSMUST00000174481]
|
| AlphaFold |
P18653 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003741
|
| SMART Domains |
Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
62 |
310 |
9.36e-88 |
SMART |
|
S_TK_X
|
311 |
372 |
7.03e-23 |
SMART |
|
S_TKc
|
407 |
664 |
1.05e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105894
|
| SMART Domains |
Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
62 |
321 |
6.4e-104 |
SMART |
|
S_TK_X
|
322 |
383 |
7.03e-23 |
SMART |
|
S_TKc
|
418 |
675 |
1.05e-104 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137486
|
| SMART Domains |
Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
|
S_TKc
|
68 |
327 |
6.4e-104 |
SMART |
|
S_TK_X
|
328 |
389 |
7.03e-23 |
SMART |
|
S_TKc
|
424 |
681 |
1.05e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157067
AA Change: S34P
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
31 |
N/A |
INTRINSIC |
|
S_TKc
|
63 |
322 |
6.4e-104 |
SMART |
|
S_TK_X
|
323 |
384 |
7.03e-23 |
SMART |
|
S_TKc
|
419 |
676 |
1.05e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168974
|
| SMART Domains |
Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
46 |
305 |
6.4e-104 |
SMART |
|
S_TK_X
|
306 |
367 |
7.03e-23 |
SMART |
|
S_TKc
|
402 |
659 |
1.05e-104 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173961
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174481
|
| SMART Domains |
Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
211 |
2.13e-68 |
SMART |
|
S_TK_X
|
212 |
273 |
7.03e-23 |
SMART |
|
S_TKc
|
308 |
565 |
1.05e-104 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,176,632 (GRCm39) |
T411A |
probably benign |
Het |
| Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
| Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,508 (GRCm39) |
V514D |
probably damaging |
Het |
| Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
| Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
| Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
| Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
| Map4k2 |
A |
C |
19: 6,395,944 (GRCm39) |
|
probably null |
Het |
| Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
| Neto2 |
A |
G |
8: 86,374,506 (GRCm39) |
V241A |
possibly damaging |
Het |
| Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
| R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
| Retreg2 |
T |
G |
1: 75,121,333 (GRCm39) |
*174G |
probably null |
Het |
| Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,105,826 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
probably damaging |
Het |
|
| Other mutations in Rps6ka1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Rps6ka1
|
APN |
4 |
133,588,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01388:Rps6ka1
|
APN |
4 |
133,599,275 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02314:Rps6ka1
|
APN |
4 |
133,578,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02803:Rps6ka1
|
APN |
4 |
133,608,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02902:Rps6ka1
|
APN |
4 |
133,599,292 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02945:Rps6ka1
|
APN |
4 |
133,594,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Rps6ka1
|
UTSW |
4 |
133,575,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Rps6ka1
|
UTSW |
4 |
133,575,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1512:Rps6ka1
|
UTSW |
4 |
133,578,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1732:Rps6ka1
|
UTSW |
4 |
133,587,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Rps6ka1
|
UTSW |
4 |
133,591,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Rps6ka1
|
UTSW |
4 |
133,600,280 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2571:Rps6ka1
|
UTSW |
4 |
133,587,923 (GRCm39) |
splice site |
probably null |
|
|
R4764:Rps6ka1
|
UTSW |
4 |
133,587,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Rps6ka1
|
UTSW |
4 |
133,593,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Rps6ka1
|
UTSW |
4 |
133,598,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5990:Rps6ka1
|
UTSW |
4 |
133,593,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6211:Rps6ka1
|
UTSW |
4 |
133,596,617 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6254:Rps6ka1
|
UTSW |
4 |
133,594,535 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7070:Rps6ka1
|
UTSW |
4 |
133,588,759 (GRCm39) |
missense |
probably benign |
|
|
R7134:Rps6ka1
|
UTSW |
4 |
133,599,373 (GRCm39) |
missense |
probably benign |
|
|
R8023:Rps6ka1
|
UTSW |
4 |
133,594,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Rps6ka1
|
UTSW |
4 |
133,592,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8266:Rps6ka1
|
UTSW |
4 |
133,590,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Rps6ka1
|
UTSW |
4 |
133,575,864 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8356:Rps6ka1
|
UTSW |
4 |
133,587,368 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8391:Rps6ka1
|
UTSW |
4 |
133,591,346 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8454:Rps6ka1
|
UTSW |
4 |
133,575,864 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8961:Rps6ka1
|
UTSW |
4 |
133,587,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9045:Rps6ka1
|
UTSW |
4 |
133,600,150 (GRCm39) |
intron |
probably benign |
|
|
R9354:Rps6ka1
|
UTSW |
4 |
133,594,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9429:Rps6ka1
|
UTSW |
4 |
133,598,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9436:Rps6ka1
|
UTSW |
4 |
133,575,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Rps6ka1
|
UTSW |
4 |
133,594,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCTTTGGTGCATTCCAAGG -3'
(R):5'- GTGGTTGGCCTTTGAGACAC -3'
Sequencing Primer
(F):5'- TGGTGCATTCCAAGGTAACC -3'
(R):5'- AGACACTTTTGGTACCCGTGAGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation