Incidental Mutation 'R0212:Rps6ka5'
| ID |
33562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
038463-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 100519428 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 null
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 null
Transcript: ENSMUST00000221356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222731
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 36,006,254 (GRCm39) |
|
probably null |
Het |
| Adat1 |
T |
A |
8: 112,713,840 (GRCm39) |
D113V |
possibly damaging |
Het |
| Arhgap40 |
T |
G |
2: 158,392,495 (GRCm39) |
L656V |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,584 (GRCm39) |
I330T |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,235,454 (GRCm39) |
D2137G |
probably damaging |
Het |
| Cd8a |
G |
A |
6: 71,350,633 (GRCm39) |
E33K |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,622,398 (GRCm39) |
G594C |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,894,767 (GRCm39) |
D31V |
probably damaging |
Het |
| Cmpk1 |
A |
T |
4: 114,822,216 (GRCm39) |
M111K |
possibly damaging |
Het |
| Crispld2 |
T |
G |
8: 120,737,370 (GRCm39) |
H40Q |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,069,586 (GRCm39) |
T441A |
probably benign |
Het |
| Dpm1 |
T |
C |
2: 168,069,414 (GRCm39) |
N5S |
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,941,196 (GRCm39) |
|
probably null |
Het |
| Fam83f |
A |
T |
15: 80,574,779 (GRCm39) |
M229L |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,189 (GRCm39) |
D474V |
probably damaging |
Het |
| Fgf21 |
G |
T |
7: 45,263,526 (GRCm39) |
P184Q |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,862 (GRCm39) |
D1008V |
probably damaging |
Het |
| Gjd2 |
T |
C |
2: 113,841,953 (GRCm39) |
T175A |
probably benign |
Het |
| Gphn |
C |
T |
12: 78,684,326 (GRCm39) |
T577I |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,563,964 (GRCm39) |
N18K |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,797,972 (GRCm39) |
R149G |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,847,506 (GRCm39) |
L330H |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,497,546 (GRCm39) |
H122L |
probably benign |
Het |
| Inpp5e |
T |
C |
2: 26,298,352 (GRCm39) |
|
probably null |
Het |
| Ism1 |
T |
C |
2: 139,582,177 (GRCm39) |
L163S |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,653,251 (GRCm39) |
V375E |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,308,293 (GRCm39) |
F306V |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,675,736 (GRCm39) |
I403F |
possibly damaging |
Het |
| Klf12 |
A |
T |
14: 100,260,298 (GRCm39) |
S144T |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,810,570 (GRCm39) |
H747Y |
possibly damaging |
Het |
| Mccc2 |
A |
G |
13: 100,091,163 (GRCm39) |
Y445H |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,980,132 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
A |
10: 93,697,242 (GRCm39) |
K479N |
probably damaging |
Het |
| Mief2 |
A |
T |
11: 60,621,493 (GRCm39) |
D62V |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,656,719 (GRCm39) |
D407G |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,296,659 (GRCm39) |
R210G |
probably damaging |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,090 (GRCm39) |
H216R |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,048,277 (GRCm39) |
E694G |
possibly damaging |
Het |
| Nptn |
A |
T |
9: 58,535,164 (GRCm39) |
Y103F |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,670,186 (GRCm39) |
|
probably benign |
Het |
| Numbl |
T |
C |
7: 26,980,184 (GRCm39) |
S389P |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,236 (GRCm39) |
V277A |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,887,644 (GRCm39) |
V274E |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,335 (GRCm39) |
D171V |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,435 (GRCm39) |
F179S |
probably damaging |
Het |
| Or5i1 |
C |
T |
2: 87,613,826 (GRCm39) |
P314L |
unknown |
Het |
| Or8g20 |
C |
A |
9: 39,396,384 (GRCm39) |
S55I |
probably damaging |
Het |
| Osm |
T |
G |
11: 4,188,465 (GRCm39) |
S31A |
probably benign |
Het |
| Paqr4 |
T |
C |
17: 23,957,294 (GRCm39) |
M70V |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,302,064 (GRCm39) |
Y1607N |
probably benign |
Het |
| Plec |
A |
C |
15: 76,075,505 (GRCm39) |
Y402* |
probably null |
Het |
| Polq |
A |
G |
16: 36,887,216 (GRCm39) |
K1631E |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,696 (GRCm39) |
V129A |
possibly damaging |
Het |
| Prm2 |
A |
G |
16: 10,609,463 (GRCm39) |
|
probably benign |
Het |
| Prtn3 |
A |
G |
10: 79,716,971 (GRCm39) |
Y112C |
probably damaging |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Slc10a1 |
A |
C |
12: 81,014,486 (GRCm39) |
L78R |
possibly damaging |
Het |
| Slc26a5 |
A |
T |
5: 22,028,547 (GRCm39) |
Y340* |
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,796,970 (GRCm39) |
|
probably null |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,820,575 (GRCm39) |
S1226T |
probably benign |
Het |
| Togaram2 |
C |
T |
17: 72,031,978 (GRCm39) |
L866F |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,558 (GRCm39) |
T37A |
probably benign |
Het |
| Vmn2r105 |
C |
A |
17: 20,428,827 (GRCm39) |
V750F |
possibly damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,366,424 (GRCm39) |
Y170F |
probably benign |
Het |
| Wrnip1 |
T |
C |
13: 33,005,889 (GRCm39) |
V577A |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,660,529 (GRCm39) |
T226A |
probably benign |
Het |
| Zfp948 |
T |
C |
17: 21,808,422 (GRCm39) |
I538T |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,764,736 (GRCm39) |
E1401G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAACTCCAACCTGCCATGTGC -3'
(R):5'- TCCTGCTTGAAAAGCCTCAAGTCC -3'
Sequencing Primer
(F):5'- GGAGACTGTCTTCAAAGCTACC -3'
(R):5'- CTGGCTTACAGCCTCATAGAAATG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation