Incidental Mutation 'R5059:Rps6ka5'
| ID |
386526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
042649-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5059 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100520634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 631
(T631I)
|
| 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: T696I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: T696I
| 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 |
unknown
Transcript: ENSMUST00000221356
AA Change: T143I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222731
AA Change: T631I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1219 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,637 (GRCm39) |
N455I |
probably damaging |
Het |
| Alg12 |
A |
G |
15: 88,695,659 (GRCm39) |
F279S |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,776,360 (GRCm39) |
D296G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,586,204 (GRCm39) |
S437T |
probably damaging |
Het |
| Apol7a |
G |
A |
15: 77,274,012 (GRCm39) |
|
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,843,175 (GRCm39) |
Y465F |
probably damaging |
Het |
| Atp8a2 |
T |
G |
14: 59,928,986 (GRCm39) |
T1023P |
probably benign |
Het |
| Cdh20 |
C |
A |
1: 109,993,430 (GRCm39) |
A295E |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,181 (GRCm39) |
E92G |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,356,224 (GRCm39) |
S752P |
probably benign |
Het |
| Dlx2 |
T |
C |
2: 71,376,585 (GRCm39) |
H51R |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,415,874 (GRCm39) |
I736T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,202,427 (GRCm39) |
T252A |
possibly damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,658 (GRCm39) |
R151G |
possibly damaging |
Het |
| Gapdhs |
C |
T |
7: 30,431,410 (GRCm39) |
A357T |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,319 (GRCm39) |
M1671K |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,907,113 (GRCm39) |
Y327C |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,214,503 (GRCm39) |
R542G |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,854,361 (GRCm39) |
K308E |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,675 (GRCm39) |
F178S |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,232,401 (GRCm39) |
D1640G |
probably damaging |
Het |
| Il18r1 |
G |
A |
1: 40,520,227 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,910,250 (GRCm39) |
S23P |
possibly damaging |
Het |
| Lactb |
T |
C |
9: 66,882,426 (GRCm39) |
E83G |
probably benign |
Het |
| Larp4 |
A |
T |
15: 99,903,171 (GRCm39) |
D414V |
probably damaging |
Het |
| Map2k5 |
T |
C |
9: 63,164,296 (GRCm39) |
H336R |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,887,071 (GRCm39) |
E1006G |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,467 (GRCm39) |
S226P |
probably damaging |
Het |
| Micall1 |
A |
T |
15: 79,007,034 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
A |
18: 4,375,827 (GRCm39) |
|
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,488 (GRCm39) |
K81* |
probably null |
Het |
| Or5p58 |
A |
G |
7: 107,694,522 (GRCm39) |
L85P |
probably damaging |
Het |
| Pnrc1 |
G |
A |
4: 33,246,072 (GRCm39) |
Q296* |
probably null |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
G |
4: 143,691,565 (GRCm39) |
V386A |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,924,046 (GRCm39) |
L439Q |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,655,882 (GRCm39) |
L3970P |
probably damaging |
Het |
| Ptcd1 |
G |
A |
5: 145,089,034 (GRCm39) |
P542L |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,570,619 (GRCm39) |
N271S |
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,177,709 (GRCm39) |
M541T |
probably benign |
Het |
| Tek |
T |
A |
4: 94,692,551 (GRCm39) |
C169S |
probably benign |
Het |
| Tgfbr3l |
T |
A |
8: 4,299,343 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,149 (GRCm39) |
N647D |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,836,293 (GRCm39) |
K638R |
probably null |
Het |
| Vmn1r191 |
G |
A |
13: 22,363,163 (GRCm39) |
A197V |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,044 (GRCm39) |
T894A |
possibly damaging |
Het |
| Vstm4 |
T |
G |
14: 32,585,687 (GRCm39) |
Y85D |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,482 (GRCm39) |
I160T |
probably benign |
Het |
| Zc3h7a |
TAGAGAG |
TAGAGAGAG |
16: 10,978,985 (GRCm39) |
|
probably null |
Het |
| Zfp988 |
A |
T |
4: 147,416,372 (GRCm39) |
K269* |
probably null |
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 |
|
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'- ACTTGGAGAATCCTCATGGAC -3'
(R):5'- ACTTTGGCGACAGACATTAGTC -3'
Sequencing Primer
(F):5'- GAGAATCCTCATGGACTTCTGGAAC -3'
(R):5'- AGTCTCTGAAATCCATTGGTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation