Incidental Mutation 'R6599:Rps6ka5'
| ID |
525139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
044723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6599 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100564168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 227
(G227V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043599]
[ENSMUST00000222731]
|
| AlphaFold |
Q8C050 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043599
AA Change: G227V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: G227V
| 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: ENSMUST00000221307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222403
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222731
AA Change: G227V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1315 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
94% (32/34) |
| 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 |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,250 (GRCm39) |
H150R |
probably benign |
Het |
| Acbd5 |
C |
T |
2: 22,959,092 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,456,979 (GRCm39) |
V237M |
probably damaging |
Het |
| Akr1c6 |
T |
G |
13: 4,499,318 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
T |
A |
8: 129,893,462 (GRCm39) |
F96L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,315,484 (GRCm39) |
H2983R |
possibly damaging |
Het |
| Dhx40 |
T |
A |
11: 86,695,175 (GRCm39) |
I112L |
possibly damaging |
Het |
| Dnmbp |
A |
T |
19: 43,845,025 (GRCm39) |
D1070E |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ep300 |
G |
C |
15: 81,470,914 (GRCm39) |
D29H |
unknown |
Het |
| Exoc3 |
T |
C |
13: 74,337,277 (GRCm39) |
|
probably null |
Het |
| Fcsk |
A |
T |
8: 111,619,915 (GRCm39) |
|
probably null |
Het |
| Gm6401 |
C |
A |
14: 41,788,821 (GRCm39) |
E83* |
probably null |
Het |
| Gm8267 |
G |
T |
14: 44,955,367 (GRCm39) |
T218K |
possibly damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,451 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
A |
7: 16,776,530 (GRCm39) |
D470V |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,917,505 (GRCm39) |
S1526G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,749 (GRCm39) |
D3101G |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,342,544 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,121,961 (GRCm39) |
G149D |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,514,669 (GRCm39) |
D116G |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,163,539 (GRCm39) |
F22S |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,506 (GRCm39) |
M216L |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,239 (GRCm39) |
S276P |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,741,718 (GRCm39) |
S29P |
possibly damaging |
Het |
| Prokr2 |
C |
T |
2: 132,215,469 (GRCm39) |
V331M |
possibly damaging |
Het |
| Ptch1 |
T |
A |
13: 63,670,918 (GRCm39) |
I871F |
probably damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,844 (GRCm39) |
Q445* |
probably null |
Het |
| Trappc14 |
G |
T |
5: 138,261,720 (GRCm39) |
|
probably null |
Het |
| Trpc7 |
T |
C |
13: 56,958,193 (GRCm39) |
|
probably null |
Het |
| Ubxn7 |
A |
G |
16: 32,203,743 (GRCm39) |
E465G |
probably damaging |
Het |
| Unk |
G |
A |
11: 115,938,628 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,551 (GRCm39) |
N261I |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,886 (GRCm39) |
K134* |
probably null |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,944 (GRCm39) |
I669L |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,565,006 (GRCm39) |
I298V |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,501,144 (GRCm39) |
K85E |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,083 (GRCm39) |
C209S |
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 |
|
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 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
|
R4706:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TGTCACTCTACAAAAGCCTTCATC -3'
(R):5'- CTGTCCTGATAGAGGTCTGTCG -3'
Sequencing Primer
(F):5'- CTACAAAAGCCTTCATCAATAAAACC -3'
(R):5'- ATAGAGGTCTGTCGGGCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation