Incidental Mutation 'R1237:Rps6ka5'
| ID |
152468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
039304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100541964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 391
(D391G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043599]
[ENSMUST00000222731]
|
| AlphaFold |
Q8C050 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043599
AA Change: D391G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: D391G
| 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 |
probably benign
Transcript: ENSMUST00000221356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222731
AA Change: D391G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223531
|
| Meta Mutation Damage Score |
0.1714 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,727,039 (GRCm39) |
M1L |
probably damaging |
Het |
| Angptl1 |
T |
A |
1: 156,686,154 (GRCm39) |
N413K |
probably damaging |
Het |
| Ankrd13b |
T |
C |
11: 77,365,400 (GRCm39) |
T70A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccdc174 |
C |
T |
6: 91,867,768 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
| Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
| Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
| Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
| Prf1 |
A |
C |
10: 61,139,428 (GRCm39) |
D462A |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
| Skor2 |
A |
T |
18: 76,963,827 (GRCm39) |
K924* |
probably null |
Het |
| Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
| Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
| Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
| Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
probably benign |
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 |
|
|
IGL03190:Rps6ka5
|
APN |
12 |
100,524,907 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGAAAACACTGCTATTCCCAC -3'
(R):5'- ACTGTGCCTCTTCTGAGGTCAGATG -3'
Sequencing Primer
(F):5'- AAACACTGCTATTCCCACTTATTTAC -3'
(R):5'- GGCAATATCTCCTTCTGAGAAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation