Incidental Mutation 'IGL02178:Rps6kc1'
| ID |
283204 |
| 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 # |
IGL02178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 190604033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 196
(S196R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061611]
[ENSMUST00000159367]
[ENSMUST00000159624]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061611
AA Change: S196R
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: S196R
| 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 |
possibly damaging
Transcript: ENSMUST00000159624
AA Change: S196R
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: S196R
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,418 (GRCm39) |
T516S |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,269,921 (GRCm39) |
|
probably benign |
Het |
| Ak5 |
T |
C |
3: 152,232,422 (GRCm39) |
D331G |
probably benign |
Het |
| Ar |
A |
G |
X: 97,349,044 (GRCm39) |
D675G |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,179 (GRCm39) |
D276G |
probably benign |
Het |
| Arhgef3 |
C |
T |
14: 26,987,486 (GRCm39) |
R40* |
probably null |
Het |
| Atp1b4 |
G |
T |
X: 37,421,695 (GRCm39) |
R293L |
possibly damaging |
Het |
| Borcs8 |
T |
C |
8: 70,617,897 (GRCm39) |
L85P |
probably damaging |
Het |
| Carmil1 |
T |
G |
13: 24,278,386 (GRCm39) |
K194N |
probably damaging |
Het |
| Catsper4 |
T |
A |
4: 133,954,637 (GRCm39) |
K4N |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,206,921 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,901,082 (GRCm39) |
S997P |
probably damaging |
Het |
| Cdkl5 |
G |
A |
X: 159,599,889 (GRCm39) |
T792I |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,743,321 (GRCm39) |
Y185C |
probably damaging |
Het |
| Clcn5 |
A |
G |
X: 7,052,563 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,546,909 (GRCm39) |
I771N |
unknown |
Het |
| Crispld1 |
C |
T |
1: 17,832,327 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,825,718 (GRCm39) |
I128T |
possibly damaging |
Het |
| Gga1 |
T |
A |
15: 78,776,247 (GRCm39) |
M430K |
probably benign |
Het |
| Has2 |
A |
G |
15: 56,545,456 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ivd |
A |
G |
2: 118,701,915 (GRCm39) |
I116V |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,481,226 (GRCm39) |
N183D |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,790,611 (GRCm39) |
I314N |
probably damaging |
Het |
| Map6d1 |
T |
G |
16: 20,055,448 (GRCm39) |
E129D |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,296,146 (GRCm39) |
V145A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,359,184 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,461,802 (GRCm39) |
F1416L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,838 (GRCm39) |
I182V |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,907 (GRCm39) |
I256N |
possibly damaging |
Het |
| Or7a35 |
T |
C |
10: 78,853,554 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,012 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pheta2 |
T |
A |
15: 82,227,527 (GRCm39) |
D15E |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Prkcq |
A |
C |
2: 11,281,851 (GRCm39) |
Y460S |
possibly damaging |
Het |
| Prmt8 |
T |
A |
6: 127,674,770 (GRCm39) |
E286V |
probably benign |
Het |
| Ptprb |
A |
T |
10: 116,158,437 (GRCm39) |
M503L |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,180 (GRCm39) |
D590E |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,656,144 (GRCm39) |
Y1951H |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,538,258 (GRCm39) |
|
probably null |
Het |
| Sde2 |
T |
G |
1: 180,678,796 (GRCm39) |
L20R |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,208,414 (GRCm39) |
C81* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,332,857 (GRCm39) |
E177G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,927,783 (GRCm39) |
V667D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,714,271 (GRCm39) |
T227A |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,741,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Vmn1r35 |
T |
G |
6: 66,656,086 (GRCm39) |
S28R |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,706 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
T |
C |
2: 157,777,337 (GRCm39) |
Y72H |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zbtb4 |
A |
T |
11: 69,667,255 (GRCm39) |
R187* |
probably null |
Het |
| Zfp598 |
A |
G |
17: 24,896,517 (GRCm39) |
D198G |
probably damaging |
Het |
| Zp2 |
G |
T |
7: 119,732,973 (GRCm39) |
A629E |
possibly damaging |
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 |
|
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 |
|
IGL03264:Rps6kc1
|
APN |
1 |
190,604,026 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation