Incidental Mutation 'IGL02902:Rps6ka1'
| ID |
363635 |
| 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 # |
IGL02902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133574601-133615108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133599292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 45
(I45N)
|
| 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
AA Change: I44N
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: I44N
| 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: I44N
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: I44N
| 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
AA Change: I50N
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: I50N
| 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: I45N
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: I45N
| 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: I28N
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: I28N
| 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 |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
G |
T |
1: 85,974,087 (GRCm39) |
V135F |
possibly damaging |
Het |
| Aatk |
T |
C |
11: 119,902,603 (GRCm39) |
T541A |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,240,991 (GRCm39) |
L516P |
probably damaging |
Het |
| Actl6a |
T |
A |
3: 32,776,791 (GRCm39) |
V350E |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,674,222 (GRCm39) |
K245E |
possibly damaging |
Het |
| Agr3 |
T |
C |
12: 35,996,915 (GRCm39) |
V63A |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,083,383 (GRCm39) |
M1162K |
probably damaging |
Het |
| Casq2 |
T |
A |
3: 101,994,113 (GRCm39) |
C53* |
probably null |
Het |
| Ccdc181 |
T |
C |
1: 164,107,470 (GRCm39) |
V51A |
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,926,310 (GRCm39) |
|
probably benign |
Het |
| Csdc2 |
T |
C |
15: 81,832,801 (GRCm39) |
V69A |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,009,997 (GRCm39) |
|
probably benign |
Het |
| Dnph1 |
A |
G |
17: 46,809,427 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
C |
3: 129,474,796 (GRCm39) |
T1124A |
probably benign |
Het |
| Gpr45 |
A |
G |
1: 43,072,371 (GRCm39) |
E338G |
possibly damaging |
Het |
| Grb14 |
A |
C |
2: 64,768,762 (GRCm39) |
L98R |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,026,224 (GRCm39) |
S77G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,925,390 (GRCm39) |
S996P |
probably benign |
Het |
| Huwe1 |
A |
G |
X: 150,669,762 (GRCm39) |
E1405G |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,617 (GRCm39) |
I128T |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,309,736 (GRCm39) |
Y1089N |
probably damaging |
Het |
| Ift56 |
A |
C |
6: 38,402,097 (GRCm39) |
S530R |
probably benign |
Het |
| Il1r1 |
A |
T |
1: 40,341,569 (GRCm39) |
H324L |
probably benign |
Het |
| Irx1 |
C |
T |
13: 72,107,974 (GRCm39) |
R236H |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,530 (GRCm39) |
V1185A |
probably benign |
Het |
| Kif19a |
T |
C |
11: 114,676,396 (GRCm39) |
V450A |
possibly damaging |
Het |
| Krtap21-1 |
G |
T |
16: 89,200,446 (GRCm39) |
Y65* |
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,176,693 (GRCm39) |
N1704K |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,047,335 (GRCm39) |
|
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,893,804 (GRCm39) |
H36L |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,385,456 (GRCm39) |
N124S |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,654,171 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,569,212 (GRCm39) |
T91A |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,119,745 (GRCm39) |
V935E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,632 (GRCm39) |
|
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,825,405 (GRCm39) |
E366G |
possibly damaging |
Het |
| Nobox |
A |
T |
6: 43,282,617 (GRCm39) |
N263K |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,018,890 (GRCm39) |
D684G |
probably damaging |
Het |
| Odr4 |
C |
A |
1: 150,260,179 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
A |
G |
14: 14,328,789 (GRCm38) |
H226R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,508 (GRCm39) |
Y273* |
probably null |
Het |
| Or5p69 |
C |
A |
7: 107,967,336 (GRCm39) |
T213K |
probably damaging |
Het |
| Or5w13 |
T |
C |
2: 87,523,344 (GRCm39) |
N294S |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,043,743 (GRCm39) |
|
probably benign |
Het |
| Plau |
A |
C |
14: 20,889,965 (GRCm39) |
D270A |
possibly damaging |
Het |
| Pof1b |
T |
C |
X: 111,558,809 (GRCm39) |
|
probably null |
Het |
| Pramel23 |
A |
G |
4: 143,424,913 (GRCm39) |
C177R |
probably damaging |
Het |
| Prtn3 |
A |
T |
10: 79,717,767 (GRCm39) |
|
probably null |
Het |
| Ptges3 |
T |
A |
10: 127,904,616 (GRCm39) |
D26E |
probably benign |
Het |
| Pxmp2 |
T |
C |
5: 110,429,160 (GRCm39) |
E99G |
probably benign |
Het |
| Rasgef1a |
A |
G |
6: 118,060,068 (GRCm39) |
R106G |
probably benign |
Het |
| Rnf208 |
T |
C |
2: 25,133,774 (GRCm39) |
V156A |
probably benign |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rsbn1 |
G |
T |
3: 103,860,972 (GRCm39) |
C466F |
possibly damaging |
Het |
| Shkbp1 |
A |
T |
7: 27,042,141 (GRCm39) |
C605S |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,360,142 (GRCm39) |
D531N |
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,317,204 (GRCm39) |
L143P |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,069,285 (GRCm39) |
R142Q |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,623,431 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,456,355 (GRCm39) |
Q316* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unc5d |
G |
A |
8: 29,365,634 (GRCm39) |
T117I |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,314,337 (GRCm39) |
I126V |
probably benign |
Het |
| Zfp410 |
T |
A |
12: 84,378,594 (GRCm39) |
|
probably null |
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 |
|
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