Incidental Mutation 'R7800:Rps6ka5'
| ID |
600493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
045855-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100524824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 638
(P638S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043599]
[ENSMUST00000222731]
|
| AlphaFold |
Q8C050 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043599
AA Change: P638S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: P638S
| 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 |
probably benign
Transcript: ENSMUST00000221356
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222731
AA Change: P573S
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,078,698 (GRCm39) |
D1264G |
probably benign |
Het |
| Ace |
T |
C |
11: 105,876,884 (GRCm39) |
F1122S |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,990,283 (GRCm39) |
Y112D |
probably benign |
Het |
| Cacnb1 |
T |
G |
11: 97,900,121 (GRCm39) |
I346L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,209,639 (GRCm39) |
T607A |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,250,175 (GRCm39) |
F32S |
probably damaging |
Het |
| Cers5 |
G |
T |
15: 99,634,122 (GRCm39) |
H409N |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,106,322 (GRCm39) |
L11H |
|
Het |
| Clcnkb |
T |
C |
4: 141,141,833 (GRCm39) |
Y51C |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,866,420 (GRCm39) |
E856G |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,491,690 (GRCm39) |
V378A |
probably benign |
Het |
| Crisp4 |
A |
C |
1: 18,198,973 (GRCm39) |
S154A |
probably benign |
Het |
| Disp1 |
C |
T |
1: 182,880,550 (GRCm39) |
R241Q |
probably benign |
Het |
| Ermard |
G |
A |
17: 15,277,065 (GRCm39) |
R429H |
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,098,929 (GRCm39) |
G34D |
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,291,863 (GRCm39) |
D707G |
probably benign |
Het |
| H1f3 |
C |
A |
13: 23,739,541 (GRCm39) |
T93N |
possibly damaging |
Het |
| Igkv5-37 |
A |
C |
6: 69,940,499 (GRCm39) |
S48R |
possibly damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,809 (GRCm39) |
A571V |
possibly damaging |
Het |
| Itgb1 |
A |
G |
8: 129,439,718 (GRCm39) |
K136E |
possibly damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,284 (GRCm39) |
F253L |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,621 (GRCm39) |
Y574C |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,396,635 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,952,488 (GRCm39) |
R576S |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,041,904 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
| Or8b53 |
T |
G |
9: 38,667,914 (GRCm39) |
L310W |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,722,376 (GRCm39) |
Y326F |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,064,426 (GRCm39) |
D363E |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,434,974 (GRCm39) |
N313K |
probably benign |
Het |
| Pcdhb9 |
A |
C |
18: 37,534,602 (GRCm39) |
S199R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,622,599 (GRCm39) |
D1537N |
probably damaging |
Het |
| Pinx1 |
A |
G |
14: 64,156,984 (GRCm39) |
K304E |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,670,134 (GRCm39) |
V458A |
probably benign |
Het |
| Polr3a |
C |
A |
14: 24,534,455 (GRCm39) |
M60I |
probably null |
Het |
| Qrich2 |
G |
T |
11: 116,347,686 (GRCm39) |
S1046* |
probably null |
Het |
| Rigi |
T |
C |
4: 40,211,618 (GRCm39) |
E650G |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,298,658 (GRCm39) |
N158K |
probably damaging |
Het |
| Sord |
T |
C |
2: 122,089,561 (GRCm39) |
V187A |
probably damaging |
Het |
| Sult2a2 |
A |
G |
7: 13,468,710 (GRCm39) |
T59A |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,896,558 (GRCm39) |
D777G |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,743,345 (GRCm39) |
D159G |
probably benign |
Het |
| Trbc1 |
A |
G |
6: 41,516,195 (GRCm39) |
I142V |
|
Het |
| Usp17ld |
A |
G |
7: 102,900,041 (GRCm39) |
V297A |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,069 (GRCm39) |
*316R |
probably null |
Het |
| Wdr59 |
C |
A |
8: 112,248,570 (GRCm39) |
R15L |
|
Het |
| Zfp189 |
C |
T |
4: 49,529,367 (GRCm39) |
P157S |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,578,800 (GRCm39) |
G771D |
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 |
|
|
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 |
|
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 |
|
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'- TGGGACCACTGCTTGTTATACAG -3'
(R):5'- AGACTATGTGCTCAGGTCAAAC -3'
Sequencing Primer
(F):5'- GGACCACTGCTTGTTATACAGAAAAC -3'
(R):5'- GGTCAAACACCAGAATACACAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation