Incidental Mutation 'R5952:Rps6kc1'
ID |
470931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rps6kc1
|
Ensembl Gene |
ENSMUSG00000089872 |
Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
Synonyms |
B130003F20Rik, RPK118 |
MMRRC Submission |
044142-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5952 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 190617617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 129
(V129A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061611]
[ENSMUST00000159066]
[ENSMUST00000159367]
[ENSMUST00000159624]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061611
AA Change: V129A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000061769 Gene: ENSMUSG00000089872 AA Change: V129A
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: ENSMUST00000159066
AA Change: V117A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124558 Gene: ENSMUSG00000089872 AA Change: V117A
Domain | Start | End | E-Value | Type |
PX
|
9 |
116 |
1.36e-9 |
SMART |
|
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: V129A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125010 Gene: ENSMUSG00000089872 AA Change: V129A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
91% (62/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,096,911 (GRCm39) |
R231H |
probably damaging |
Het |
Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
Gen1 |
A |
T |
12: 11,310,897 (GRCm39) |
S112T |
probably damaging |
Het |
Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
C |
A |
16: 18,753,815 (GRCm39) |
T553K |
possibly damaging |
Het |
Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
Myh9 |
A |
G |
15: 77,657,532 (GRCm39) |
I1071T |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
Tacc1 |
G |
T |
8: 25,672,011 (GRCm39) |
L406I |
possibly damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,937 (GRCm39) |
Y77N |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCATCCAGTGTGCAGAGC -3'
(R):5'- ACACACTTGGCTTGGCTGTG -3'
Sequencing Primer
(F):5'- CATCCAGTGTGCAGAGCCAAAG -3'
(R):5'- TGGCACGTCCTTACAGCTGAG -3'
|
Posted On |
2017-03-31 |