Incidental Mutation 'R5992:Rps6ka5'
| ID |
480905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka5
|
| Ensembl Gene |
ENSMUSG00000021180 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
| Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100541509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 417
(P417T)
|
| 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: P417T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042987
Gene: ENSMUSG00000021180
AA Change: P417T
| 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 |
probably benign
Transcript: ENSMUST00000221356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222731
AA Change: P417T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223531
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,819,549 (GRCm39) |
L188* |
probably null |
Het |
| Acod1 |
C |
T |
14: 103,292,471 (GRCm39) |
R332C |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,839,194 (GRCm39) |
K852M |
probably damaging |
Het |
| Adm |
A |
T |
7: 110,226,903 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,263,837 (GRCm39) |
S286G |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,753,300 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
T |
2: 113,973,530 (GRCm39) |
Y427* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,045,231 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
T |
A |
9: 111,972,553 (GRCm39) |
R259* |
probably null |
Het |
| Cep290 |
C |
T |
10: 100,379,183 (GRCm39) |
A55V |
possibly damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Clcn2 |
T |
C |
16: 20,532,404 (GRCm39) |
E68G |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,473,732 (GRCm39) |
H699L |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,459,681 (GRCm39) |
Y446H |
probably damaging |
Het |
| Dcst1 |
T |
A |
3: 89,259,883 (GRCm39) |
E613V |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,421,507 (GRCm39) |
C74R |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,418,496 (GRCm39) |
K128T |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,326,317 (GRCm39) |
S893R |
unknown |
Het |
| Dtl |
A |
T |
1: 191,300,684 (GRCm39) |
|
probably null |
Het |
| F2rl1 |
T |
A |
13: 95,650,778 (GRCm39) |
S35C |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,819,959 (GRCm39) |
Y2562F |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,044 (GRCm39) |
D42V |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm21190 |
T |
A |
5: 15,729,849 (GRCm39) |
E256D |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,346 (GRCm39) |
S66P |
probably damaging |
Het |
| Hal |
T |
G |
10: 93,326,778 (GRCm39) |
L138R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,207,284 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,504,618 (GRCm39) |
M2450K |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,845,234 (GRCm39) |
T94A |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,411,320 (GRCm39) |
V696A |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 19,432,289 (GRCm39) |
M1I |
probably null |
Het |
| Marchf7 |
C |
A |
2: 60,075,564 (GRCm39) |
N674K |
probably benign |
Het |
| Mfap1b |
A |
G |
2: 121,300,776 (GRCm39) |
V34A |
probably benign |
Het |
| Mob3b |
G |
A |
4: 35,084,069 (GRCm39) |
S40L |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,063,987 (GRCm39) |
V386E |
probably damaging |
Het |
| Nfic |
C |
T |
10: 81,256,581 (GRCm39) |
A19T |
probably damaging |
Het |
| Nfs1 |
G |
A |
2: 155,976,373 (GRCm39) |
R174W |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,092,298 (GRCm39) |
S670R |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,930,935 (GRCm39) |
I754V |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,380,201 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
T |
A |
2: 89,237,223 (GRCm39) |
M67L |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,703 (GRCm39) |
T78S |
possibly damaging |
Het |
| Or51a6 |
G |
T |
7: 102,604,216 (GRCm39) |
N197K |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,502 (GRCm39) |
E524G |
probably damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,246,723 (GRCm39) |
R638* |
probably null |
Het |
| Pkmyt1 |
G |
C |
17: 23,954,300 (GRCm39) |
W360S |
probably benign |
Het |
| Plxnd1 |
C |
A |
6: 115,944,748 (GRCm39) |
|
probably null |
Het |
| Poldip3 |
A |
T |
15: 83,013,430 (GRCm39) |
N322K |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,478,695 (GRCm39) |
I419L |
probably benign |
Het |
| Prss36 |
A |
T |
7: 127,544,002 (GRCm39) |
V123E |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,874,703 (GRCm39) |
I46T |
probably damaging |
Het |
| Rac1 |
T |
C |
5: 143,492,753 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,220 (GRCm39) |
Y36C |
probably damaging |
Het |
| Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,218,926 (GRCm39) |
F951L |
unknown |
Het |
| Ryr1 |
A |
G |
7: 28,767,062 (GRCm39) |
W2967R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,442,992 (GRCm39) |
S1679R |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,165,800 (GRCm39) |
W153G |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,373,726 (GRCm39) |
Y114C |
probably damaging |
Het |
| Son |
T |
C |
16: 91,455,792 (GRCm39) |
M1513T |
probably benign |
Het |
| Spag8 |
C |
T |
4: 43,651,534 (GRCm39) |
V447M |
probably benign |
Het |
| St3gal2 |
T |
A |
8: 111,696,185 (GRCm39) |
Y257N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,397,282 (GRCm39) |
D40E |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,851 (GRCm39) |
H158R |
probably benign |
Het |
| Tppp2 |
G |
T |
14: 52,156,392 (GRCm39) |
V50L |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,746,994 (GRCm39) |
S1503P |
probably benign |
Het |
| Ttll4 |
T |
G |
1: 74,724,550 (GRCm39) |
S573R |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,249,747 (GRCm39) |
N841K |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,167,068 (GRCm39) |
C688S |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,266,369 (GRCm39) |
|
probably null |
Het |
| Zfp608 |
G |
A |
18: 55,032,320 (GRCm39) |
T540I |
probably benign |
Het |
| Zfp775 |
G |
A |
6: 48,596,750 (GRCm39) |
R208Q |
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 |
|
|
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'- CCTAAGTGGTCAAAAGCCCC -3'
(R):5'- GAAGATTGTCACTGCCAACCTG -3'
Sequencing Primer
(F):5'- CCCAAGAAAGACTGCTAGGACTG -3'
(R):5'- GTCACTGCCAACCTGCATGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation