Incidental Mutation 'R4394:Rps6ka5'
| ID |
326552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| MMRRC Submission |
041683-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100547578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 311
(I311F)
|
| 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: I311F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: I311F
| 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: ENSMUST00000221379
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222731
AA Change: I311F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5964 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,566 (GRCm39) |
F391L |
probably damaging |
Het |
| AC140205.10 |
C |
A |
8: 21,323,181 (GRCm39) |
T192K |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,329,557 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 85,965,124 (GRCm39) |
N855K |
possibly damaging |
Het |
| Ces2f |
A |
G |
8: 105,677,586 (GRCm39) |
N197S |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,098,581 (GRCm39) |
T1520A |
probably damaging |
Het |
| Cltc |
A |
C |
11: 86,624,456 (GRCm39) |
N159K |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,189,645 (GRCm39) |
T656I |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,521,907 (GRCm39) |
L181H |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,834,088 (GRCm39) |
I4168T |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,061,398 (GRCm39) |
D117G |
probably benign |
Het |
| Gm8122 |
A |
G |
14: 43,091,525 (GRCm39) |
L81P |
unknown |
Het |
| Hal |
T |
C |
10: 93,332,421 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,823,949 (GRCm39) |
Y715* |
probably null |
Het |
| Hid1 |
T |
A |
11: 115,258,468 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
| Jrkl |
G |
A |
9: 13,245,146 (GRCm39) |
Q172* |
probably null |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Lman2l |
A |
C |
1: 36,478,804 (GRCm39) |
C103G |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,890,276 (GRCm39) |
S522P |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,570,957 (GRCm39) |
I86L |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mgst2 |
G |
A |
3: 51,571,949 (GRCm39) |
V26I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,077,525 (GRCm39) |
Y158* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,391,345 (GRCm39) |
I210V |
probably benign |
Het |
| Or7g18 |
A |
T |
9: 18,786,907 (GRCm39) |
I95L |
probably damaging |
Het |
| Or8j3b |
C |
T |
2: 86,205,523 (GRCm39) |
A78T |
possibly damaging |
Het |
| Pcdhb8 |
C |
T |
18: 37,489,935 (GRCm39) |
P538S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,278,376 (GRCm39) |
D295G |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,263,854 (GRCm39) |
Y286C |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,347 (GRCm39) |
V102E |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,943,847 (GRCm39) |
K126N |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,046,922 (GRCm39) |
I435T |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,950 (GRCm39) |
K105R |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,745,267 (GRCm39) |
R840L |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,793,667 (GRCm39) |
T1267K |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,863,482 (GRCm39) |
T252I |
probably damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,612,312 (GRCm39) |
S201C |
probably damaging |
Het |
| Slitrk1 |
A |
C |
14: 109,148,735 (GRCm39) |
S659A |
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,488,715 (GRCm39) |
M880K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,713 (GRCm39) |
T320I |
probably benign |
Het |
| Tex44 |
T |
C |
1: 86,355,489 (GRCm39) |
V466A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Tpst1 |
T |
A |
5: 130,131,343 (GRCm39) |
M271K |
probably benign |
Het |
| Trank1 |
C |
T |
9: 111,194,265 (GRCm39) |
T763I |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,703,462 (GRCm39) |
H729Q |
probably damaging |
Het |
| Tshz3 |
A |
T |
7: 36,469,030 (GRCm39) |
T340S |
probably damaging |
Het |
| Ttc5 |
T |
C |
14: 51,018,962 (GRCm39) |
K52E |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Wsb2 |
T |
G |
5: 117,501,643 (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 |
|
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 |
|
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'- CTTTAGGGAGGGAAAGCCATTTAG -3'
(R):5'- CGGTTTCCAAATGCTTCACC -3'
Sequencing Primer
(F):5'- GGTCTAAACAAGTAGAAGTCTGCTCC -3'
(R):5'- CCATTGTTATAACGTCATGATCCAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation