Incidental Mutation 'IGL02930:Rps6kl1'
| ID |
364042 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps6kl1
|
| Ensembl Gene |
ENSMUSG00000019235 |
| Gene Name |
ribosomal protein S6 kinase-like 1 |
| Synonyms |
A830084F09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85182023-85198038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85196548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 39
(T39A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019379]
[ENSMUST00000221972]
|
| AlphaFold |
Q8R2S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019379
AA Change: T39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
AA Change: T39A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
MIT
|
46 |
123 |
8.99e-25 |
SMART |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
178 |
519 |
1.9e-12 |
PFAM |
|
Pfam:Pkinase
|
367 |
534 |
1.1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221972
AA Change: T39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223399
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
| Other mutations in Rps6kl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Rps6kl1
|
APN |
12 |
85,186,203 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL00493:Rps6kl1
|
APN |
12 |
85,186,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01372:Rps6kl1
|
APN |
12 |
85,193,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Rps6kl1
|
APN |
12 |
85,185,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB008:Rps6kl1
|
UTSW |
12 |
85,196,566 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB018:Rps6kl1
|
UTSW |
12 |
85,196,566 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2059:Rps6kl1
|
UTSW |
12 |
85,186,397 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4467:Rps6kl1
|
UTSW |
12 |
85,194,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Rps6kl1
|
UTSW |
12 |
85,187,161 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5120:Rps6kl1
|
UTSW |
12 |
85,186,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5415:Rps6kl1
|
UTSW |
12 |
85,186,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5593:Rps6kl1
|
UTSW |
12 |
85,193,675 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5669:Rps6kl1
|
UTSW |
12 |
85,194,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7931:Rps6kl1
|
UTSW |
12 |
85,196,566 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8681:Rps6kl1
|
UTSW |
12 |
85,194,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Rps6kl1
|
UTSW |
12 |
85,185,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9406:Rps6kl1
|
UTSW |
12 |
85,186,280 (GRCm39) |
missense |
probably benign |
|
|
R9681:Rps6kl1
|
UTSW |
12 |
85,183,599 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Rps6kl1
|
UTSW |
12 |
85,186,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Rps6kl1
|
UTSW |
12 |
85,194,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation