Incidental Mutation 'IGL03190:Rps6ka5'
| ID |
412635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 100524907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043599]
[ENSMUST00000222731]
|
| AlphaFold |
Q8C050 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043599
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
S_TKc
|
48 |
317 |
1.08e-101 |
SMART |
|
S_TK_X
|
318 |
378 |
2.45e-13 |
SMART |
|
S_TKc
|
425 |
751 |
1.1e-75 |
SMART |
|
low complexity region
|
812 |
832 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221323
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222731
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a mutant allele exhibit altered response to cocaine including decreased hyperlocomotor activity and sensitization at a lower dose. Mice homozygous for a kinase dead allele exhibit altered experience-dependent synaptic plasticity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
| Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
| Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
| Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
| Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
| Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
| Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
| Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
| Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
| Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
| Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
probably damaging |
Het |
|
| Other mutations in Rps6ka5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Rps6ka5
|
APN |
12 |
100,540,157 (GRCm39) |
missense |
probably benign |
|
|
IGL01450:Rps6ka5
|
APN |
12 |
100,519,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Rps6ka5
|
APN |
12 |
100,537,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01743:Rps6ka5
|
APN |
12 |
100,541,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02995:Rps6ka5
|
APN |
12 |
100,540,258 (GRCm39) |
intron |
probably benign |
|
|
IGL03051:Rps6ka5
|
APN |
12 |
100,582,250 (GRCm39) |
splice site |
probably null |
|
|
chard
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ramp
|
UTSW |
12 |
100,541,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
zwiebel
|
UTSW |
12 |
100,644,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Rps6ka5
|
UTSW |
12 |
100,644,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0055:Rps6ka5
|
UTSW |
12 |
100,644,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0067:Rps6ka5
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Rps6ka5
|
UTSW |
12 |
100,519,428 (GRCm39) |
splice site |
probably null |
|
|
R0761:Rps6ka5
|
UTSW |
12 |
100,537,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Rps6ka5
|
UTSW |
12 |
100,540,697 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1237:Rps6ka5
|
UTSW |
12 |
100,541,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1254:Rps6ka5
|
UTSW |
12 |
100,585,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Rps6ka5
|
UTSW |
12 |
100,544,084 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1611:Rps6ka5
|
UTSW |
12 |
100,537,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2086:Rps6ka5
|
UTSW |
12 |
100,585,874 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2129:Rps6ka5
|
UTSW |
12 |
100,644,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2298:Rps6ka5
|
UTSW |
12 |
100,517,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2432:Rps6ka5
|
UTSW |
12 |
100,520,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Rps6ka5
|
UTSW |
12 |
100,564,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4461:Rps6ka5
|
UTSW |
12 |
100,537,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4584:Rps6ka5
|
UTSW |
12 |
100,547,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Rps6ka5
|
UTSW |
12 |
100,620,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4706:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4706:Rps6ka5
|
UTSW |
12 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
|
R4707:Rps6ka5
|
UTSW |
12 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
|
R4966:Rps6ka5
|
UTSW |
12 |
100,519,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5059:Rps6ka5
|
UTSW |
12 |
100,520,634 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5404:Rps6ka5
|
UTSW |
12 |
100,582,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Rps6ka5
|
UTSW |
12 |
100,585,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5678:Rps6ka5
|
UTSW |
12 |
100,691,135 (GRCm39) |
missense |
unknown |
|
|
R5992:Rps6ka5
|
UTSW |
12 |
100,541,509 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6104:Rps6ka5
|
UTSW |
12 |
100,519,407 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6163:Rps6ka5
|
UTSW |
12 |
100,562,179 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6390:Rps6ka5
|
UTSW |
12 |
100,537,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6599:Rps6ka5
|
UTSW |
12 |
100,564,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Rps6ka5
|
UTSW |
12 |
100,517,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6693:Rps6ka5
|
UTSW |
12 |
100,540,088 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7009:Rps6ka5
|
UTSW |
12 |
100,585,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Rps6ka5
|
UTSW |
12 |
100,547,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Rps6ka5
|
UTSW |
12 |
100,562,123 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7510:Rps6ka5
|
UTSW |
12 |
100,582,327 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7565:Rps6ka5
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Rps6ka5
|
UTSW |
12 |
100,524,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7843:Rps6ka5
|
UTSW |
12 |
100,519,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8009:Rps6ka5
|
UTSW |
12 |
100,544,048 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8057:Rps6ka5
|
UTSW |
12 |
100,540,055 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8292:Rps6ka5
|
UTSW |
12 |
100,644,791 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8324:Rps6ka5
|
UTSW |
12 |
100,524,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8428:Rps6ka5
|
UTSW |
12 |
100,541,500 (GRCm39) |
nonsense |
probably null |
|
|
R8913:Rps6ka5
|
UTSW |
12 |
100,520,595 (GRCm39) |
missense |
|
|
|
R9711:Rps6ka5
|
UTSW |
12 |
100,540,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation