Incidental Mutation 'R8197:Rps6ka1'
| ID |
635483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka1
|
| Ensembl Gene |
ENSMUSG00000003644 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
Rsk1 |
| MMRRC Submission |
067620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133574601-133615108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133592673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 276
(K276E)
|
| 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
AA Change: K265E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: K265E
| 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 |
possibly damaging
Transcript: ENSMUST00000105894
AA Change: K276E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: K276E
| 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
AA Change: K282E
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: K282E
| 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 |
possibly damaging
Transcript: ENSMUST00000157067
AA Change: K277E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: K277E
| 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
AA Change: K260E
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: K260E
| 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 |
possibly damaging
Transcript: ENSMUST00000174481
AA Change: K166E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: K166E
| 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 |
|
| Meta Mutation Damage Score |
0.4336 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
96% (46/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,780,628 (GRCm39) |
D836E |
probably benign |
Het |
| Abca6 |
A |
C |
11: 110,102,641 (GRCm39) |
L861R |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,481,227 (GRCm39) |
A560E |
probably damaging |
Het |
| Adra2b |
A |
T |
2: 127,206,578 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Anxa3 |
A |
G |
5: 96,982,651 (GRCm39) |
T250A |
probably benign |
Het |
| B4galt5 |
T |
A |
2: 167,144,023 (GRCm39) |
N309I |
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,643,177 (GRCm39) |
R1056S |
probably damaging |
Het |
| Ccdc185 |
G |
T |
1: 182,576,324 (GRCm39) |
P122T |
possibly damaging |
Het |
| Cdk5rap3 |
A |
G |
11: 96,806,975 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,296,857 (GRCm39) |
Y31N |
probably benign |
Het |
| Crygc |
T |
C |
1: 65,112,365 (GRCm39) |
M70V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,517,666 (GRCm39) |
E2000G |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,203,171 (GRCm39) |
N266S |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,249,088 (GRCm39) |
D304E |
probably benign |
Het |
| Fabp9 |
T |
G |
3: 10,259,887 (GRCm39) |
K42T |
probably benign |
Het |
| Fhl4 |
T |
A |
10: 84,934,101 (GRCm39) |
I227F |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,926,921 (GRCm39) |
|
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,186 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,092,348 (GRCm39) |
D317G |
possibly damaging |
Het |
| Hrh4 |
A |
G |
18: 13,154,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,278 (GRCm39) |
N123S |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,841 (GRCm39) |
V2A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,389,971 (GRCm39) |
L500P |
unknown |
Het |
| Itgae |
G |
A |
11: 73,011,210 (GRCm39) |
R660Q |
probably benign |
Het |
| Kcnip2 |
T |
C |
19: 45,782,730 (GRCm39) |
I204V |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,493,447 (GRCm39) |
E471G |
probably damaging |
Het |
| Lrrtm3 |
T |
A |
10: 63,924,295 (GRCm39) |
T291S |
possibly damaging |
Het |
| Mast1 |
T |
A |
8: 85,639,450 (GRCm39) |
H1293L |
possibly damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,607 (GRCm39) |
E257G |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,743,607 (GRCm39) |
Y223H |
probably damaging |
Het |
| Nab1 |
G |
A |
1: 52,529,127 (GRCm39) |
R257* |
probably null |
Het |
| Ncapd3 |
C |
A |
9: 26,997,329 (GRCm39) |
L1217I |
probably damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,448 (GRCm39) |
D274V |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pde4d |
T |
A |
13: 110,084,870 (GRCm39) |
I489N |
probably damaging |
Het |
| Pdyn |
C |
T |
2: 129,530,277 (GRCm39) |
G131R |
probably benign |
Het |
| Qrich2 |
CACCTGCTTGCAACACACCAGGCTGAACTGGACCT |
CACCT |
11: 116,347,861 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,407,684 (GRCm39) |
N752I |
possibly damaging |
Het |
| Scyl2 |
T |
C |
10: 89,498,228 (GRCm39) |
I194V |
probably benign |
Het |
| Sec31b |
T |
G |
19: 44,512,955 (GRCm39) |
R511S |
probably benign |
Het |
| Serpinb6d |
T |
C |
13: 33,851,588 (GRCm39) |
F115S |
probably damaging |
Het |
| Skint6 |
T |
G |
4: 112,752,040 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,411,542 (GRCm39) |
P614S |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,227,516 (GRCm39) |
I182M |
probably damaging |
Het |
| Vmn1r125 |
G |
A |
7: 21,006,851 (GRCm39) |
V250I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp959 |
A |
T |
17: 56,204,677 (GRCm39) |
D238V |
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 |
|
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'- ACAGCCACAGGTCTCATCAG -3'
(R):5'- TCTTAACAGGCCAGCAAGAATC -3'
Sequencing Primer
(F):5'- CTTTTCCAGCTCAGTCCAGAGAAG -3'
(R):5'- AGAATCCCCGGACTGCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation