Incidental Mutation 'R9586:Rps6kc1'
ID |
722784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rps6kc1
|
Ensembl Gene |
ENSMUSG00000089872 |
Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
Synonyms |
B130003F20Rik, RPK118 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9586 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 190514774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 1006
(M1006I)
|
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: M1006I
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000061769 Gene: ENSMUSG00000089872 AA Change: M1006I
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl6ip5 |
C |
T |
6: 97,206,572 (GRCm39) |
A84V |
possibly damaging |
Het |
Cep170 |
G |
A |
1: 176,563,463 (GRCm39) |
P716L |
possibly damaging |
Het |
Chrm3 |
A |
T |
13: 9,927,480 (GRCm39) |
C519S |
probably damaging |
Het |
Dnase1l3 |
A |
T |
14: 7,967,796 (GRCm38) |
V299D |
possibly damaging |
Het |
Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
Elmo3 |
A |
G |
8: 106,034,760 (GRCm39) |
Y382C |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,139,746 (GRCm39) |
L945P |
|
Het |
Fstl4 |
A |
T |
11: 53,077,729 (GRCm39) |
I829L |
probably benign |
Het |
Gm36210 |
T |
A |
7: 4,909,324 (GRCm39) |
R45* |
probably null |
Het |
Homer2 |
C |
T |
7: 81,260,113 (GRCm39) |
R318Q |
probably benign |
Het |
Ice2 |
G |
A |
9: 69,314,478 (GRCm39) |
E76K |
probably damaging |
Het |
Ifi203 |
T |
A |
1: 173,754,623 (GRCm39) |
R703* |
probably null |
Het |
Insyn2a |
T |
C |
7: 134,520,180 (GRCm39) |
T117A |
probably damaging |
Het |
Lonp1 |
G |
A |
17: 56,924,839 (GRCm39) |
R523C |
probably damaging |
Het |
Myh10 |
G |
A |
11: 68,703,820 (GRCm39) |
V1881I |
possibly damaging |
Het |
Nfe2 |
T |
C |
15: 103,157,244 (GRCm39) |
D249G |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,932,635 (GRCm39) |
|
probably null |
Het |
Oog3 |
A |
T |
4: 143,884,966 (GRCm39) |
C323* |
probably null |
Het |
Ovgp1 |
A |
G |
3: 105,881,138 (GRCm39) |
R3G |
probably damaging |
Het |
Pex1 |
A |
G |
5: 3,676,047 (GRCm39) |
I838M |
probably damaging |
Het |
Rpusd1 |
A |
G |
17: 25,947,292 (GRCm39) |
T37A |
probably damaging |
Het |
Sema6d |
C |
A |
2: 124,496,096 (GRCm39) |
R47S |
probably damaging |
Het |
Serpini2 |
G |
A |
3: 75,166,891 (GRCm39) |
T122I |
probably benign |
Het |
Slc10a7 |
A |
G |
8: 79,456,266 (GRCm39) |
I289M |
probably damaging |
Het |
Slc25a37 |
G |
T |
14: 69,482,421 (GRCm39) |
N293K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,458,039 (GRCm39) |
A3281T |
probably benign |
Het |
Stard13 |
A |
T |
5: 150,985,832 (GRCm39) |
N559K |
possibly damaging |
Het |
Tmem87b |
T |
A |
2: 128,660,260 (GRCm39) |
M1K |
probably null |
Het |
Vmn1r199 |
C |
T |
13: 22,567,716 (GRCm39) |
R337C |
probably benign |
Het |
Vmn1r55 |
T |
A |
7: 5,149,770 (GRCm39) |
N218Y |
probably benign |
Het |
Vmn2r41 |
T |
G |
7: 8,141,742 (GRCm39) |
Q574P |
|
Het |
Vmn2r45 |
T |
C |
7: 8,486,050 (GRCm39) |
N413D |
probably benign |
Het |
Wdr33 |
T |
C |
18: 31,966,669 (GRCm39) |
S170P |
probably damaging |
Het |
Zfp385a |
A |
T |
15: 103,241,580 (GRCm39) |
I20N |
probably damaging |
Het |
Zfp493 |
A |
G |
13: 67,932,017 (GRCm39) |
S39G |
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 |
|
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 |
R9756:Rps6kc1
|
UTSW |
1 |
190,604,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACATGTAGCCTGCATAAGCC -3'
(R):5'- TTCAGCCTAACCTGCCTCAG -3'
Sequencing Primer
(F):5'- TGCATAAGCCTGCCTAGCATG -3'
(R):5'- TAACCTGCCTCAGTGACACTGC -3'
|
Posted On |
2022-08-09 |