Incidental Mutation 'R8166:Rps6ka4'
| ID |
633810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6ka4
|
| Ensembl Gene |
ENSMUSG00000024952 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 4 |
| Synonyms |
90kDa, MSK2, 1110069D02Rik |
| MMRRC Submission |
067592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.880)
|
| Stock # |
R8166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6806578-6818004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6814811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 264
(R264W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025903]
[ENSMUST00000170516]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025903
AA Change: R264W
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952
AA Change: R264W
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
33 |
301 |
1.93e-98 |
SMART |
|
S_TK_X
|
302 |
363 |
5.72e-14 |
SMART |
|
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
|
S_TKc
|
411 |
674 |
1.15e-87 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170516
AA Change: R264W
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952
AA Change: R264W
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
33 |
301 |
1.93e-98 |
SMART |
|
S_TK_X
|
302 |
363 |
5.72e-14 |
SMART |
|
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
|
S_TKc
|
411 |
674 |
1.15e-87 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: No phenotypic information associated with mutations in this gene have been reported. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,144,232 (GRCm39) |
V569A |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,674 (GRCm39) |
F140S |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,845,224 (GRCm39) |
Q269L |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,132,660 (GRCm39) |
A20S |
possibly damaging |
Het |
| Aqr |
T |
A |
2: 113,943,806 (GRCm39) |
M1111L |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,457,270 (GRCm39) |
H923L |
possibly damaging |
Het |
| Bmpr1a |
A |
C |
14: 34,147,026 (GRCm39) |
W249G |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,906,740 (GRCm39) |
N611I |
probably damaging |
Het |
| Cadm2 |
A |
G |
16: 66,750,197 (GRCm39) |
L9S |
probably benign |
Het |
| Ccdc102a |
C |
A |
8: 95,639,944 (GRCm39) |
A117S |
possibly damaging |
Het |
| Clec4f |
G |
T |
6: 83,629,624 (GRCm39) |
S311R |
possibly damaging |
Het |
| Dchs2 |
T |
A |
3: 83,261,640 (GRCm39) |
I2636N |
probably benign |
Het |
| Dync2h1 |
T |
A |
9: 7,129,089 (GRCm39) |
K1809* |
probably null |
Het |
| Efs |
C |
T |
14: 55,158,077 (GRCm39) |
R108Q |
probably damaging |
Het |
| Eif5b |
A |
G |
1: 38,087,901 (GRCm39) |
T966A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,153 (GRCm39) |
S414P |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,433,731 (GRCm39) |
N92H |
probably damaging |
Het |
| Gm13030 |
A |
T |
4: 138,598,533 (GRCm39) |
L130H |
unknown |
Het |
| Gm17190 |
A |
C |
13: 96,219,142 (GRCm39) |
R159S |
unknown |
Het |
| Hipk1 |
T |
C |
3: 103,685,489 (GRCm39) |
Y42C |
possibly damaging |
Het |
| Ifi207 |
C |
A |
1: 173,557,166 (GRCm39) |
C524F |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Ighv8-9 |
G |
T |
12: 115,432,212 (GRCm39) |
P33H |
probably damaging |
Het |
| Igkv8-34 |
A |
G |
6: 70,021,619 (GRCm39) |
V15A |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,086,712 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
G |
11: 100,632,712 (GRCm39) |
L925P |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,967,141 (GRCm39) |
R153H |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,577,880 (GRCm39) |
T335A |
probably benign |
Het |
| Med20 |
A |
G |
17: 47,924,027 (GRCm39) |
T52A |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,095 (GRCm39) |
T139S |
possibly damaging |
Het |
| Mtif3 |
T |
C |
5: 146,896,052 (GRCm39) |
T12A |
probably benign |
Het |
| N4bp2 |
T |
G |
5: 65,977,655 (GRCm39) |
S1518A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
| Nasp |
A |
T |
4: 116,468,112 (GRCm39) |
V291E |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,376,036 (GRCm39) |
D40E |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,834,057 (GRCm39) |
D103G |
probably benign |
Het |
| Nsmce1 |
A |
G |
7: 125,070,319 (GRCm39) |
L164P |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,059,763 (GRCm39) |
V426I |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,904 (GRCm39) |
V143A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,572 (GRCm39) |
E217G |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,106,875 (GRCm39) |
I649V |
probably benign |
Het |
| Prxl2c |
A |
T |
13: 64,456,921 (GRCm39) |
Y101N |
|
Het |
| Pum2 |
G |
A |
12: 8,771,739 (GRCm39) |
A361T |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,798,815 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,755,146 (GRCm39) |
T1278A |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,300 (GRCm39) |
K434N |
possibly damaging |
Het |
| Suclg1 |
T |
A |
6: 73,237,555 (GRCm39) |
V100D |
probably damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,153,867 (GRCm39) |
E1528D |
possibly damaging |
Het |
| Trgc1 |
A |
G |
13: 19,400,772 (GRCm39) |
N167S |
|
Het |
| Tshz2 |
C |
A |
2: 169,725,575 (GRCm39) |
T57K |
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,491,673 (GRCm39) |
R229H |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,840,855 (GRCm39) |
V1563A |
probably benign |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,888 (GRCm39) |
M70K |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,428,904 (GRCm39) |
I724N |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,744 (GRCm39) |
L26P |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,120,610 (GRCm39) |
S955N |
probably benign |
Het |
| Zfp518b |
C |
A |
5: 38,831,838 (GRCm39) |
A56S |
probably damaging |
Het |
|
| Other mutations in Rps6ka4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Rps6ka4
|
APN |
19 |
6,808,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Rps6ka4
|
APN |
19 |
6,809,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02536:Rps6ka4
|
APN |
19 |
6,809,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Rps6ka4
|
APN |
19 |
6,809,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03299:Rps6ka4
|
APN |
19 |
6,809,615 (GRCm39) |
splice site |
probably benign |
|
|
R0510:Rps6ka4
|
UTSW |
19 |
6,817,866 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1104:Rps6ka4
|
UTSW |
19 |
6,808,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1620:Rps6ka4
|
UTSW |
19 |
6,815,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Rps6ka4
|
UTSW |
19 |
6,816,730 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1648:Rps6ka4
|
UTSW |
19 |
6,816,730 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1939:Rps6ka4
|
UTSW |
19 |
6,816,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2370:Rps6ka4
|
UTSW |
19 |
6,807,468 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2412:Rps6ka4
|
UTSW |
19 |
6,807,309 (GRCm39) |
makesense |
probably null |
|
|
R2571:Rps6ka4
|
UTSW |
19 |
6,815,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Rps6ka4
|
UTSW |
19 |
6,814,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3427:Rps6ka4
|
UTSW |
19 |
6,815,123 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3721:Rps6ka4
|
UTSW |
19 |
6,816,645 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3844:Rps6ka4
|
UTSW |
19 |
6,815,171 (GRCm39) |
nonsense |
probably null |
|
|
R4092:Rps6ka4
|
UTSW |
19 |
6,809,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4169:Rps6ka4
|
UTSW |
19 |
6,809,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4677:Rps6ka4
|
UTSW |
19 |
6,816,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Rps6ka4
|
UTSW |
19 |
6,815,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4975:Rps6ka4
|
UTSW |
19 |
6,817,678 (GRCm39) |
splice site |
probably null |
|
|
R5631:Rps6ka4
|
UTSW |
19 |
6,808,345 (GRCm39) |
splice site |
probably benign |
|
|
R6462:Rps6ka4
|
UTSW |
19 |
6,814,957 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6643:Rps6ka4
|
UTSW |
19 |
6,809,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Rps6ka4
|
UTSW |
19 |
6,815,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Rps6ka4
|
UTSW |
19 |
6,816,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Rps6ka4
|
UTSW |
19 |
6,808,679 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8021:Rps6ka4
|
UTSW |
19 |
6,807,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8988:Rps6ka4
|
UTSW |
19 |
6,808,667 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9481:Rps6ka4
|
UTSW |
19 |
6,809,372 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9664:Rps6ka4
|
UTSW |
19 |
6,809,354 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9723:Rps6ka4
|
UTSW |
19 |
6,816,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
U24488:Rps6ka4
|
UTSW |
19 |
6,809,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Rps6ka4
|
UTSW |
19 |
6,815,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0027:Rps6ka4
|
UTSW |
19 |
6,815,140 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGGAATACATTTGTGCTCCC -3'
(R):5'- TGGGTATCCTGCTCTTCGAG -3'
Sequencing Primer
(F):5'- GGAATACATTTGTGCTCCCCATGC -3'
(R):5'- TCTTCGAGCTGCTGACAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation