Incidental Mutation 'IGL03087:Rps6kc1'
| ID |
418135 |
| 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 # |
IGL03087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 190603908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 238
(Y238C)
|
| 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 damaging
Transcript: ENSMUST00000061611
AA Change: Y238C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: Y238C
| 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 damaging
Transcript: ENSMUST00000159624
AA Change: Y238C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: Y238C
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
T |
5: 25,202,630 (GRCm39) |
|
probably benign |
Het |
| Acbd5 |
A |
G |
2: 22,979,722 (GRCm39) |
T261A |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,340,493 (GRCm39) |
T331I |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,173,066 (GRCm39) |
T150A |
probably benign |
Het |
| Arid4a |
G |
T |
12: 71,122,019 (GRCm39) |
R478L |
possibly damaging |
Het |
| Bard1 |
T |
C |
1: 71,106,289 (GRCm39) |
D446G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,958,182 (GRCm39) |
L1087P |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,624,390 (GRCm39) |
L279P |
possibly damaging |
Het |
| Bphl |
A |
T |
13: 34,257,694 (GRCm39) |
H275L |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,845,042 (GRCm39) |
I120V |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,003,118 (GRCm39) |
V3606I |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,017,081 (GRCm39) |
N696S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,951,248 (GRCm39) |
H420R |
possibly damaging |
Het |
| Enpp1 |
T |
A |
10: 24,531,779 (GRCm39) |
|
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,974,019 (GRCm39) |
|
probably null |
Het |
| Glt8d1 |
T |
A |
14: 30,732,053 (GRCm39) |
F155I |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,785,980 (GRCm39) |
H598Q |
possibly damaging |
Het |
| Hnrnpdl |
T |
A |
5: 100,185,460 (GRCm39) |
E149D |
probably damaging |
Het |
| Ifngr2 |
G |
T |
16: 91,359,892 (GRCm39) |
*333L |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,715,414 (GRCm39) |
S486P |
probably benign |
Het |
| Igsf9 |
T |
C |
1: 172,318,310 (GRCm39) |
I150T |
probably benign |
Het |
| Jag2 |
G |
A |
12: 112,877,568 (GRCm39) |
L670F |
possibly damaging |
Het |
| Kcnc2 |
T |
A |
10: 112,291,652 (GRCm39) |
I280N |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,148,462 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
G |
1: 128,228,112 (GRCm39) |
L1127P |
possibly damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,692,705 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
A |
13: 13,809,641 (GRCm39) |
I437N |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,885,559 (GRCm39) |
S1453P |
probably benign |
Het |
| Mcmdc2 |
A |
G |
1: 10,001,170 (GRCm39) |
M482V |
possibly damaging |
Het |
| Mical1 |
T |
C |
10: 41,358,686 (GRCm39) |
S535P |
probably damaging |
Het |
| Myh3 |
T |
C |
11: 66,981,798 (GRCm39) |
F765L |
probably damaging |
Het |
| Nat8f6 |
A |
T |
6: 85,785,499 (GRCm39) |
Y217N |
probably damaging |
Het |
| Ndufaf1 |
A |
G |
2: 119,486,280 (GRCm39) |
|
probably benign |
Het |
| Neurod6 |
A |
T |
6: 55,655,760 (GRCm39) |
C292* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,005 (GRCm39) |
I173F |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,015 (GRCm39) |
E109G |
probably damaging |
Het |
| Or5j1 |
A |
T |
2: 86,879,356 (GRCm39) |
S75T |
possibly damaging |
Het |
| Or6c76 |
A |
T |
10: 129,612,130 (GRCm39) |
M116L |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,380 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,735 (GRCm39) |
N572D |
probably damaging |
Het |
| Pfpl |
A |
G |
19: 12,406,241 (GRCm39) |
N164S |
probably benign |
Het |
| Pi4kb |
A |
G |
3: 94,892,075 (GRCm39) |
R264G |
probably benign |
Het |
| Pla2g2c |
T |
A |
4: 138,458,923 (GRCm39) |
F10I |
probably benign |
Het |
| Rag2 |
G |
A |
2: 101,460,559 (GRCm39) |
V290I |
probably benign |
Het |
| Rhot2 |
G |
A |
17: 26,060,115 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
G |
T |
10: 89,488,830 (GRCm39) |
A495D |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,476,071 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,067,992 (GRCm39) |
A18S |
probably benign |
Het |
| Slc25a11 |
T |
C |
11: 70,536,033 (GRCm39) |
T234A |
probably benign |
Het |
| Slc44a2 |
C |
T |
9: 21,258,061 (GRCm39) |
T435I |
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,218,660 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,389 (GRCm39) |
V199A |
possibly damaging |
Het |
| Trap1 |
G |
T |
16: 3,862,565 (GRCm39) |
|
probably null |
Het |
| Trmt1 |
A |
G |
8: 85,421,862 (GRCm39) |
Y213C |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,177,668 (GRCm39) |
R3184* |
probably null |
Het |
| Uroc1 |
G |
T |
6: 90,340,085 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,476 (GRCm39) |
I10V |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,310,302 (GRCm39) |
A748V |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation