Incidental Mutation 'R5209:Rps6ka1'
| ID |
403031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka1
|
| Ensembl Gene |
ENSMUSG00000003644 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
Rsk1 |
| MMRRC Submission |
042784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133574601-133615108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133593129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 218
(V218D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003741]
[ENSMUST00000105894]
[ENSMUST00000137486]
[ENSMUST00000157067]
[ENSMUST00000168974]
[ENSMUST00000174481]
|
| AlphaFold |
P18653 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003741
AA Change: V234D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003741
Gene: ENSMUSG00000003644
AA Change: V234D
| 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 damaging
Transcript: ENSMUST00000105894
AA Change: V234D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101514
Gene: ENSMUSG00000003644
AA Change: V234D
| 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: ENSMUST00000129636
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137486
AA Change: V240D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119328
Gene: ENSMUSG00000003644
AA Change: V240D
| 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 damaging
Transcript: ENSMUST00000157067
AA Change: V235D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121341
Gene: ENSMUSG00000003644
AA Change: V235D
| 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 damaging
Transcript: ENSMUST00000168974
AA Change: V218D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126774
Gene: ENSMUSG00000003644
AA Change: V218D
| 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: ENSMUST00000173989
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174481
AA Change: V124D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134507
Gene: ENSMUSG00000003644
AA Change: V124D
| 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 |
0.8753 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (57/57) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,130 (GRCm39) |
V500A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,672 (GRCm39) |
Y491H |
probably damaging |
Het |
| Adgb |
C |
A |
10: 10,274,681 (GRCm39) |
V759L |
possibly damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,292,563 (GRCm39) |
K243* |
probably null |
Het |
| Arhgap24 |
T |
A |
5: 103,040,015 (GRCm39) |
D317E |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,634 (GRCm39) |
I462F |
probably benign |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Btbd18 |
A |
G |
2: 84,498,443 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ces1d |
A |
T |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Chmp2a |
C |
A |
7: 12,766,601 (GRCm39) |
V106F |
probably damaging |
Het |
| Cinp |
T |
C |
12: 110,840,494 (GRCm39) |
E219G |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,689,939 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,345,667 (GRCm39) |
S2271A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 77,994,497 (GRCm39) |
L376H |
probably damaging |
Het |
| Fam81a |
T |
C |
9: 70,032,442 (GRCm39) |
T17A |
probably benign |
Het |
| Fgd2 |
T |
A |
17: 29,587,350 (GRCm39) |
|
probably null |
Het |
| Gjc3 |
C |
T |
5: 137,955,533 (GRCm39) |
V251I |
probably benign |
Het |
| Gnaz |
T |
G |
10: 74,827,823 (GRCm39) |
F192V |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
G |
T |
2: 25,456,935 (GRCm39) |
A614E |
probably damaging |
Het |
| Mapk8ip2 |
A |
T |
15: 89,343,490 (GRCm39) |
Q713L |
probably damaging |
Het |
| Mettl1 |
T |
C |
10: 126,881,203 (GRCm39) |
V238A |
possibly damaging |
Het |
| Ms4a4c |
G |
A |
19: 11,393,802 (GRCm39) |
G74E |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,230,736 (GRCm39) |
Y113* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,742,995 (GRCm39) |
L1169P |
possibly damaging |
Het |
| Npr3 |
A |
G |
15: 11,848,689 (GRCm39) |
V426A |
possibly damaging |
Het |
| Or12d15 |
T |
C |
17: 37,693,721 (GRCm39) |
S88P |
probably damaging |
Het |
| Or5au1 |
T |
C |
14: 52,273,410 (GRCm39) |
T53A |
probably benign |
Het |
| Or6c202 |
A |
C |
10: 128,996,801 (GRCm39) |
D17E |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,817 (GRCm39) |
M258K |
possibly damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,514 (GRCm39) |
F768S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,166,000 (GRCm39) |
N2077S |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,783,181 (GRCm39) |
P713L |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,043,295 (GRCm39) |
T333A |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,856 (GRCm39) |
T510S |
probably benign |
Het |
| Ptprr |
A |
T |
10: 115,998,514 (GRCm39) |
E208V |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,474,560 (GRCm39) |
Y194C |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,490,293 (GRCm39) |
|
probably null |
Het |
| Rexo5 |
T |
A |
7: 119,433,522 (GRCm39) |
Y493* |
probably null |
Het |
| Rgs9 |
T |
C |
11: 109,130,420 (GRCm39) |
|
probably null |
Het |
| Satb1 |
A |
T |
17: 52,116,235 (GRCm39) |
M16K |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,170,459 (GRCm39) |
F395S |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,652 (GRCm39) |
T4453A |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,483 (GRCm39) |
I82F |
probably benign |
Het |
| Stam |
T |
A |
2: 14,151,158 (GRCm39) |
I505K |
probably benign |
Het |
| Tesk2 |
G |
A |
4: 116,581,895 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,793 (GRCm39) |
K430R |
probably benign |
Het |
| Trmo |
T |
C |
4: 46,387,740 (GRCm39) |
N34D |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,279,350 (GRCm39) |
C686F |
probably damaging |
Het |
| Vdac1 |
C |
T |
11: 52,267,279 (GRCm39) |
T60I |
probably damaging |
Het |
| Zfp652 |
G |
C |
11: 95,654,491 (GRCm39) |
R478P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTCTAGCTGCAGCAAGG -3'
(R):5'- AACCTTGGTGATACCTGGCTC -3'
Sequencing Primer
(F):5'- TGCAGCAAGGCCTGTGC -3'
(R):5'- TGATACCTGGCTCCGGTCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation