Incidental Mutation 'IGL03264:Rps6kc1'
| ID |
415015 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps6kc1
|
| Ensembl Gene |
ENSMUSG00000089872 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
B130003F20Rik, RPK118 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 190604026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 199
(T199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061611]
[ENSMUST00000159367]
[ENSMUST00000159624]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061611
AA Change: T199A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: T199A
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
9 |
128 |
1.26e-13 |
SMART |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
MIT
|
235 |
313 |
1.12e-20 |
SMART |
|
low complexity region
|
317 |
332 |
N/A |
INTRINSIC |
|
SCOP:d1apme_
|
347 |
417 |
2e-5 |
SMART |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
863 |
1046 |
4.4e-26 |
PFAM |
|
Pfam:Pkinase_Tyr
|
876 |
1032 |
5.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159367
|
| SMART Domains |
Protein: ENSMUSP00000124383
Gene: ENSMUSG00000089872
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
9 |
50 |
4e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159624
AA Change: T199A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: T199A
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
9 |
128 |
1.26e-13 |
SMART |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
Pfam:MIT
|
238 |
299 |
6.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162692
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
G |
17: 31,283,428 (GRCm39) |
S38A |
probably benign |
Het |
| Alkbh1 |
T |
G |
12: 87,478,197 (GRCm39) |
D238A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,220 (GRCm39) |
D1531E |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,056,784 (GRCm39) |
I3152F |
probably damaging |
Het |
| Cacng3 |
G |
T |
7: 122,271,180 (GRCm39) |
G62W |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,958,093 (GRCm39) |
I625V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,228,898 (GRCm39) |
N444S |
possibly damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,193 (GRCm39) |
Y256* |
probably null |
Het |
| Clcn5 |
T |
A |
X: 7,044,613 (GRCm39) |
H177L |
probably benign |
Het |
| Dars1 |
G |
A |
1: 128,341,427 (GRCm39) |
R63C |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,677,572 (GRCm39) |
S84G |
probably benign |
Het |
| Dcxr |
T |
C |
11: 120,617,298 (GRCm39) |
N82D |
probably damaging |
Het |
| Eef1a2 |
C |
A |
2: 180,790,527 (GRCm39) |
K376N |
possibly damaging |
Het |
| Efhc1 |
G |
A |
1: 21,037,715 (GRCm39) |
M297I |
probably benign |
Het |
| Etfb |
G |
T |
7: 43,101,897 (GRCm39) |
V64F |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,637 (GRCm39) |
N852K |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,376,790 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,513,288 (GRCm39) |
K274E |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,525,553 (GRCm39) |
S200T |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Med12l |
C |
T |
3: 59,208,788 (GRCm39) |
Q2139* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,155,337 (GRCm39) |
F1536L |
possibly damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,329 (GRCm39) |
Q100L |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,370,119 (GRCm39) |
I389T |
probably damaging |
Het |
| Rnf128 |
T |
G |
X: 138,511,985 (GRCm39) |
V144G |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,109 (GRCm39) |
T486A |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,343,854 (GRCm39) |
D1338V |
unknown |
Het |
| Slc35g2 |
A |
T |
9: 100,434,699 (GRCm39) |
I324K |
possibly damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,238,507 (GRCm39) |
R225H |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,793,636 (GRCm39) |
H113Q |
probably damaging |
Het |
| Stpg2 |
A |
C |
3: 139,014,970 (GRCm39) |
K378N |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,066,422 (GRCm39) |
|
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,573,521 (GRCm39) |
K218E |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,819 (GRCm39) |
I667F |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,048,016 (GRCm39) |
L1763P |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,989,959 (GRCm39) |
Y313H |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,229 (GRCm39) |
S676P |
probably benign |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,811 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rps6kc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Rps6kc1
|
APN |
1 |
190,505,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Rps6kc1
|
APN |
1 |
190,515,822 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01331:Rps6kc1
|
APN |
1 |
190,532,549 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01551:Rps6kc1
|
APN |
1 |
190,505,837 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01665:Rps6kc1
|
APN |
1 |
190,643,854 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02178:Rps6kc1
|
APN |
1 |
190,604,033 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02550:Rps6kc1
|
APN |
1 |
190,604,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Rps6kc1
|
APN |
1 |
190,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Rps6kc1
|
APN |
1 |
190,643,803 (GRCm39) |
nonsense |
probably null |
|
|
IGL03087:Rps6kc1
|
APN |
1 |
190,603,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Rps6kc1
|
APN |
1 |
190,532,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03386:Rps6kc1
|
APN |
1 |
190,531,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0184:Rps6kc1
|
UTSW |
1 |
190,531,290 (GRCm39) |
missense |
probably null |
1.00 |
|
R0280:Rps6kc1
|
UTSW |
1 |
190,541,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Rps6kc1
|
UTSW |
1 |
190,531,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0651:Rps6kc1
|
UTSW |
1 |
190,531,693 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0785:Rps6kc1
|
UTSW |
1 |
190,541,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Rps6kc1
|
UTSW |
1 |
190,532,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1428:Rps6kc1
|
UTSW |
1 |
190,530,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Rps6kc1
|
UTSW |
1 |
190,531,672 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1536:Rps6kc1
|
UTSW |
1 |
190,603,965 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1709:Rps6kc1
|
UTSW |
1 |
190,532,533 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2060:Rps6kc1
|
UTSW |
1 |
190,542,305 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2153:Rps6kc1
|
UTSW |
1 |
190,530,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Rps6kc1
|
UTSW |
1 |
190,631,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Rps6kc1
|
UTSW |
1 |
190,631,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4177:Rps6kc1
|
UTSW |
1 |
190,532,616 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4231:Rps6kc1
|
UTSW |
1 |
190,541,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4401:Rps6kc1
|
UTSW |
1 |
190,532,155 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4402:Rps6kc1
|
UTSW |
1 |
190,530,802 (GRCm39) |
intron |
probably benign |
|
|
R4785:Rps6kc1
|
UTSW |
1 |
190,482,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4810:Rps6kc1
|
UTSW |
1 |
190,541,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Rps6kc1
|
UTSW |
1 |
190,532,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Rps6kc1
|
UTSW |
1 |
190,530,891 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4976:Rps6kc1
|
UTSW |
1 |
190,530,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5134:Rps6kc1
|
UTSW |
1 |
190,505,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Rps6kc1
|
UTSW |
1 |
190,515,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Rps6kc1
|
UTSW |
1 |
190,531,663 (GRCm39) |
missense |
probably benign |
|
|
R5952:Rps6kc1
|
UTSW |
1 |
190,617,617 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5979:Rps6kc1
|
UTSW |
1 |
190,532,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Rps6kc1
|
UTSW |
1 |
190,482,381 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7024:Rps6kc1
|
UTSW |
1 |
190,532,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7192:Rps6kc1
|
UTSW |
1 |
190,532,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7423:Rps6kc1
|
UTSW |
1 |
190,531,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Rps6kc1
|
UTSW |
1 |
190,532,254 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7718:Rps6kc1
|
UTSW |
1 |
190,604,022 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7783:Rps6kc1
|
UTSW |
1 |
190,505,851 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7794:Rps6kc1
|
UTSW |
1 |
190,515,825 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7972:Rps6kc1
|
UTSW |
1 |
190,531,321 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9236:Rps6kc1
|
UTSW |
1 |
190,532,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9370:Rps6kc1
|
UTSW |
1 |
190,531,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9586:Rps6kc1
|
UTSW |
1 |
190,514,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9756:Rps6kc1
|
UTSW |
1 |
190,604,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation