Incidental Mutation 'R9354:Rps6ka1'
| ID |
708255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka1
|
| Ensembl Gene |
ENSMUSG00000003644 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
Rsk1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133574601-133615108 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 133594432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101514
(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 null
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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
| 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 |
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: 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.] 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,873 (GRCm39) |
Q181R |
unknown |
Het |
| Acsl1 |
T |
G |
8: 46,966,753 (GRCm39) |
C242G |
probably benign |
Het |
| Agap2 |
A |
C |
10: 126,923,104 (GRCm39) |
N646T |
unknown |
Het |
| Ankrd44 |
A |
T |
1: 54,687,438 (GRCm39) |
*994R |
probably null |
Het |
| Apol7c |
C |
T |
15: 77,410,112 (GRCm39) |
R278H |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,921,401 (GRCm39) |
E2166G |
probably benign |
Het |
| Caskin2 |
G |
A |
11: 115,693,468 (GRCm39) |
T528M |
probably damaging |
Het |
| Ccdc30 |
G |
T |
4: 119,230,850 (GRCm39) |
P15Q |
possibly damaging |
Het |
| Cemip2 |
A |
G |
19: 21,779,389 (GRCm39) |
S400G |
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,379,114 (GRCm39) |
T45I |
|
Het |
| Cep68 |
T |
C |
11: 20,188,569 (GRCm39) |
E612G |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,392 (GRCm39) |
L446P |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,516,850 (GRCm39) |
Y40N |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,221,922 (GRCm39) |
N496S |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,323 (GRCm39) |
D561V |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,818,411 (GRCm38) |
L87Q |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,825 (GRCm39) |
I276F |
possibly damaging |
Het |
| Gid4 |
G |
T |
11: 60,308,618 (GRCm39) |
R46L |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,029 (GRCm39) |
D125N |
possibly damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,366 (GRCm39) |
N56S |
probably benign |
Het |
| Grhpr |
G |
T |
4: 44,981,465 (GRCm39) |
R5L |
probably benign |
Het |
| Gstm6 |
A |
T |
3: 107,850,018 (GRCm39) |
N59K |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,694,769 (GRCm39) |
F802L |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,816,348 (GRCm39) |
V159D |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,237,668 (GRCm39) |
S351G |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,785,146 (GRCm39) |
H354Q |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,059,875 (GRCm39) |
S641P |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,130,385 (GRCm39) |
T110A |
probably benign |
Het |
| Lcorl |
T |
A |
5: 45,890,968 (GRCm39) |
K545* |
probably null |
Het |
| Lilra6 |
A |
G |
7: 3,914,628 (GRCm39) |
S546P |
probably damaging |
Het |
| Ly6c1 |
T |
A |
15: 74,916,471 (GRCm39) |
I124F |
probably benign |
Het |
| Map4 |
A |
G |
9: 109,897,847 (GRCm39) |
T858A |
probably benign |
Het |
| Marchf5 |
G |
T |
19: 37,185,264 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,307,157 (GRCm39) |
K769E |
|
Het |
| Myh6 |
T |
A |
14: 55,200,992 (GRCm39) |
I157F |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,994 (GRCm39) |
V389A |
probably benign |
Het |
| Or52b3 |
G |
A |
7: 102,204,397 (GRCm39) |
R302H |
possibly damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,949,640 (GRCm39) |
H352R |
probably benign |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,123,848 (GRCm39) |
V73A |
probably damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,342,080 (GRCm39) |
V625I |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,905,473 (GRCm39) |
V61A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,279,313 (GRCm39) |
N445S |
possibly damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,510,749 (GRCm39) |
R222L |
possibly damaging |
Het |
| Rorc |
A |
T |
3: 94,280,170 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,725,757 (GRCm39) |
Y1164C |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,902 (GRCm39) |
Y304* |
probably null |
Het |
| Slc26a4 |
A |
T |
12: 31,585,255 (GRCm39) |
V513D |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,936,471 (GRCm39) |
D705E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,934,905 (GRCm39) |
T704A |
probably benign |
Het |
| Tex15 |
C |
G |
8: 34,063,344 (GRCm39) |
Q925E |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,875 (GRCm39) |
T145S |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,425,696 (GRCm39) |
C17Y |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,701,027 (GRCm39) |
Y999H |
probably benign |
Het |
| Vat1 |
A |
C |
11: 101,351,441 (GRCm39) |
M300R |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,725 (GRCm39) |
I140F |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,663 (GRCm39) |
I695M |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,942,660 (GRCm39) |
R789Q |
unknown |
Het |
| Zswim5 |
G |
A |
4: 116,844,232 (GRCm39) |
G1090D |
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 |
|
R5544:Rps6ka1
|
UTSW |
4 |
133,599,326 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
|
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'- AAGTGAACCTGCTGTTGGCC -3'
(R):5'- TGCATTGACTGTGTCCCCAG -3'
Sequencing Primer
(F):5'- TTGGCCACAACCTGCGAC -3'
(R):5'- CATTGACTGTGTCCCCAGGGTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation