Incidental Mutation 'IGL01310:Rps6kc1'
| ID |
73634 |
| 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 # |
IGL01310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 190515822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 968
(E968V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061769
(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: E968V
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: E968V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
| 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 |
probably benign
Transcript: ENSMUST00000160889
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930431F12Rik |
A |
T |
5: 45,125,156 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
A |
T |
1: 71,323,315 (GRCm39) |
I1589N |
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,950,801 (GRCm39) |
D888A |
probably benign |
Het |
| Adam5 |
C |
T |
8: 25,232,150 (GRCm39) |
|
probably benign |
Het |
| Amer1 |
A |
T |
X: 94,470,716 (GRCm39) |
N467K |
probably benign |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,968 (GRCm39) |
D272G |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,575,794 (GRCm39) |
N751K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,652,080 (GRCm39) |
N250K |
probably damaging |
Het |
| Cndp2 |
G |
T |
18: 84,689,002 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Cnnm3 |
A |
G |
1: 36,551,956 (GRCm39) |
D322G |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,851,054 (GRCm39) |
S1606T |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,879,596 (GRCm39) |
S531P |
probably damaging |
Het |
| Espnl |
A |
T |
1: 91,268,333 (GRCm39) |
K320* |
probably null |
Het |
| Glt1d1 |
A |
G |
5: 127,709,384 (GRCm39) |
T13A |
possibly damaging |
Het |
| Gpam |
C |
T |
19: 55,066,764 (GRCm39) |
A584T |
possibly damaging |
Het |
| Gpr19 |
A |
G |
6: 134,846,705 (GRCm39) |
I289T |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,800 (GRCm39) |
I572V |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,027,308 (GRCm39) |
N502K |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,062,247 (GRCm39) |
M6V |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,085,724 (GRCm39) |
V263A |
probably damaging |
Het |
| Il33 |
G |
A |
19: 29,930,156 (GRCm39) |
A65T |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,598,227 (GRCm39) |
M1K |
probably null |
Het |
| Izumo3 |
T |
C |
4: 92,035,217 (GRCm39) |
|
probably benign |
Het |
| Kdr |
G |
A |
5: 76,110,261 (GRCm39) |
P909S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,997,182 (GRCm39) |
E262K |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,208,996 (GRCm39) |
Q278L |
probably benign |
Het |
| Lgi2 |
G |
T |
5: 52,711,807 (GRCm39) |
P195Q |
probably benign |
Het |
| Lpcat3 |
T |
C |
6: 124,676,301 (GRCm39) |
F120S |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,554,661 (GRCm39) |
R910Q |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,366,902 (GRCm39) |
|
probably null |
Het |
| Nuf2 |
A |
T |
1: 169,326,431 (GRCm39) |
V440E |
probably benign |
Het |
| Or10ag60 |
T |
A |
2: 87,437,852 (GRCm39) |
I40N |
possibly damaging |
Het |
| Or4f14 |
C |
T |
2: 111,742,652 (GRCm39) |
V208M |
probably benign |
Het |
| Or51ah3 |
C |
T |
7: 103,210,008 (GRCm39) |
S108F |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,865 (GRCm39) |
I154T |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,405,974 (GRCm39) |
D75G |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,130 (GRCm39) |
V134A |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,805,787 (GRCm39) |
I521V |
possibly damaging |
Het |
| Slc25a30 |
T |
C |
14: 76,007,037 (GRCm39) |
Y153C |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,292,171 (GRCm39) |
|
probably null |
Het |
| Spmip4 |
C |
A |
6: 50,551,175 (GRCm39) |
V425L |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,700,544 (GRCm39) |
K275* |
probably null |
Het |
| Tnc |
T |
C |
4: 63,931,314 (GRCm39) |
T799A |
probably benign |
Het |
| Trdn |
A |
T |
10: 33,181,094 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,706,879 (GRCm39) |
|
probably benign |
Het |
| Uaca |
T |
C |
9: 60,779,507 (GRCm39) |
M1296T |
probably benign |
Het |
| Ubash3a |
A |
C |
17: 31,434,116 (GRCm39) |
I154L |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,317,200 (GRCm39) |
|
probably null |
Het |
| Xpc |
T |
C |
6: 91,467,089 (GRCm39) |
K915E |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,724,153 (GRCm39) |
I2052T |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation