Incidental Mutation 'IGL02803:Rps6ka1'
| ID |
360305 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps6ka1
|
| Ensembl Gene |
ENSMUSG00000003644 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
Rsk1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133574601-133615108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133608265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 24
(Q24L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003741]
[ENSMUST00000105894]
[ENSMUST00000174481]
|
| AlphaFold |
P18653 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003741
AA Change: Q24L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: Q24L
| 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
AA Change: Q24L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: Q24L
| 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: ENSMUST00000118376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158696
|
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
C |
T |
12: 37,302,480 (GRCm39) |
L106F |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,673,473 (GRCm39) |
I208T |
possibly damaging |
Het |
| Arap2 |
G |
T |
5: 62,906,452 (GRCm39) |
A189D |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,883,324 (GRCm39) |
K1402E |
possibly damaging |
Het |
| C7 |
A |
C |
15: 5,079,042 (GRCm39) |
F89V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,861 (GRCm39) |
T877I |
probably damaging |
Het |
| Cpt2 |
T |
C |
4: 107,764,583 (GRCm39) |
T394A |
probably benign |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,875,078 (GRCm39) |
T2528N |
probably damaging |
Het |
| Entpd8 |
G |
T |
2: 24,975,151 (GRCm39) |
W494L |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,163,135 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,444 (GRCm39) |
V779A |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,455,548 (GRCm39) |
S34P |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,364,528 (GRCm39) |
V297A |
probably benign |
Het |
| Gpr65 |
T |
C |
12: 98,241,469 (GRCm39) |
S41P |
probably damaging |
Het |
| Gps1 |
G |
T |
11: 120,677,649 (GRCm39) |
A221S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,448,867 (GRCm39) |
S1861T |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,902,711 (GRCm39) |
E184G |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,452,140 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
C |
T |
16: 13,221,020 (GRCm39) |
T743I |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,291 (GRCm39) |
S284G |
possibly damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,331,317 (GRCm39) |
A360S |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,987,533 (GRCm39) |
H298R |
probably benign |
Het |
| Or5an1 |
A |
T |
19: 12,261,347 (GRCm39) |
S312C |
possibly damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,321 (GRCm39) |
V91E |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,287 (GRCm39) |
D192G |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,170,006 (GRCm39) |
M158V |
probably benign |
Het |
| Patj |
C |
A |
4: 98,314,301 (GRCm39) |
Q374K |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,797 (GRCm39) |
G289W |
probably damaging |
Het |
| Phkg1 |
T |
G |
5: 129,894,895 (GRCm39) |
I219L |
possibly damaging |
Het |
| Ppp1r15b |
G |
A |
1: 133,061,081 (GRCm39) |
A533T |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,350,192 (GRCm39) |
I398V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,651,530 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,260,212 (GRCm39) |
L229F |
possibly damaging |
Het |
| Sgk3 |
T |
C |
1: 9,949,273 (GRCm39) |
I147T |
possibly damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,062,387 (GRCm39) |
I159N |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,572,526 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,541,714 (GRCm39) |
I347V |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,016,713 (GRCm39) |
M2163L |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,786,133 (GRCm39) |
|
probably benign |
Het |
| Sult2a8 |
G |
A |
7: 14,145,630 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,078,320 (GRCm39) |
L4718P |
probably damaging |
Het |
| Timd4 |
G |
T |
11: 46,706,521 (GRCm39) |
G108W |
probably damaging |
Het |
| Timm9 |
T |
C |
12: 71,173,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,275 (GRCm39) |
V258I |
probably benign |
Het |
| Zcchc9 |
C |
T |
13: 91,949,000 (GRCm39) |
V174I |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,342,236 (GRCm39) |
V205A |
possibly 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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation