Incidental Mutation 'R4171:Rps6kb1'
| ID |
318143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rps6kb1
|
| Ensembl Gene |
ENSMUSG00000020516 |
| Gene Name |
ribosomal protein S6 kinase, polypeptide 1 |
| Synonyms |
S6K1, 2610318I15Rik, p70S6K1, p70/85s6k, p70s6k |
| MMRRC Submission |
041011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R4171 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86389697-86435631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86435405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 43
(E43G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020821]
[ENSMUST00000058286]
[ENSMUST00000069503]
[ENSMUST00000108030]
[ENSMUST00000138810]
[ENSMUST00000154617]
[ENSMUST00000167178]
|
| AlphaFold |
Q8BSK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020821
|
| SMART Domains |
Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
Blast:Tubulin
|
273 |
323 |
1e-12 |
BLAST |
|
SCOP:d1tubb2
|
289 |
481 |
6e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000020824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058286
AA Change: E43G
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516
AA Change: E43G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
91 |
202 |
1.2e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
91 |
253 |
5.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069503
|
| SMART Domains |
Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
SCOP:d1tubb2
|
256 |
450 |
1e-25 |
SMART |
|
Blast:Tubulin
|
258 |
292 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108030
|
| SMART Domains |
Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
Blast:Tubulin
|
273 |
323 |
1e-12 |
BLAST |
|
SCOP:d1tubb2
|
289 |
481 |
6e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138810
|
| SMART Domains |
Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1koba_
|
13 |
74 |
9e-13 |
SMART |
|
PDB:4L3L|A
|
21 |
74 |
6e-30 |
PDB |
|
Blast:S_TKc
|
38 |
74 |
7e-16 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154617
AA Change: E43G
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516
AA Change: E43G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
91 |
352 |
8.24e-107 |
SMART |
|
S_TK_X
|
353 |
415 |
9.2e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167178
|
| SMART Domains |
Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
47 |
246 |
2.91e-30 |
SMART |
|
SCOP:d1tubb2
|
256 |
450 |
1e-25 |
SMART |
|
Blast:Tubulin
|
258 |
292 |
1e-11 |
BLAST |
|
| Meta Mutation Damage Score |
0.0945 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (42/42) |
| 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 ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced prenatal growth, glucose intolerance, and hypoinsulinemia associated with diminished pancreatic beta cell size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Apmap |
A |
G |
2: 150,425,987 (GRCm39) |
V387A |
probably benign |
Het |
| B130024G19Rik |
C |
T |
7: 70,038,454 (GRCm39) |
|
noncoding transcript |
Het |
| Cd200r1 |
A |
G |
16: 44,613,127 (GRCm39) |
I244M |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,001,863 (GRCm39) |
D429G |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,591,636 (GRCm39) |
Y458* |
probably null |
Het |
| Elapor1 |
G |
T |
3: 108,368,259 (GRCm39) |
Q885K |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,786 (GRCm39) |
Y378H |
probably benign |
Het |
| Ifi203 |
A |
C |
1: 173,761,341 (GRCm39) |
|
probably benign |
Het |
| Ifna6 |
T |
C |
4: 88,746,038 (GRCm39) |
V129A |
probably benign |
Het |
| Igkv3-4 |
G |
A |
6: 70,649,324 (GRCm39) |
A108T |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,167,422 (GRCm39) |
Q165* |
probably null |
Het |
| Kdm4c |
T |
A |
4: 74,199,135 (GRCm39) |
Y108N |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,168 (GRCm39) |
V486I |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,228,163 (GRCm39) |
|
probably null |
Het |
| Mettl6 |
T |
C |
14: 31,215,624 (GRCm39) |
N52S |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,343 (GRCm39) |
I458T |
possibly damaging |
Het |
| Or1e16 |
A |
C |
11: 73,286,365 (GRCm39) |
L161R |
probably damaging |
Het |
| Or6c204 |
G |
A |
10: 129,022,453 (GRCm39) |
A279V |
probably benign |
Het |
| Pecr |
A |
T |
1: 72,315,428 (GRCm39) |
N107K |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,593,997 (GRCm39) |
Q1307R |
probably benign |
Het |
| Poll |
T |
C |
19: 45,544,492 (GRCm39) |
K310E |
probably damaging |
Het |
| Rab29 |
A |
G |
1: 131,795,475 (GRCm39) |
Q29R |
probably benign |
Het |
| Reg2 |
G |
A |
6: 78,383,574 (GRCm39) |
G99D |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,429 (GRCm39) |
S58L |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,757,815 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
A |
12: 73,397,326 (GRCm39) |
Y323N |
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,634,562 (GRCm39) |
S152P |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,248,810 (GRCm39) |
Y605C |
probably damaging |
Het |
| Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,996 (GRCm39) |
F247L |
probably damaging |
Het |
| Zbtb39 |
C |
T |
10: 127,578,236 (GRCm39) |
T270I |
possibly damaging |
Het |
| Zfp512b |
G |
A |
2: 181,232,391 (GRCm39) |
|
probably null |
Het |
| Zwilch |
T |
A |
9: 64,065,997 (GRCm39) |
R255* |
probably null |
Het |
|
| Other mutations in Rps6kb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Rps6kb1
|
APN |
11 |
86,393,592 (GRCm39) |
missense |
probably benign |
|
|
IGL02707:Rps6kb1
|
APN |
11 |
86,426,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03101:Rps6kb1
|
APN |
11 |
86,393,708 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03331:Rps6kb1
|
APN |
11 |
86,423,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cobb
|
UTSW |
11 |
86,410,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0025:Rps6kb1
|
UTSW |
11 |
86,402,413 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1797:Rps6kb1
|
UTSW |
11 |
86,393,634 (GRCm39) |
nonsense |
probably null |
|
|
R1931:Rps6kb1
|
UTSW |
11 |
86,423,647 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2214:Rps6kb1
|
UTSW |
11 |
86,424,896 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3196:Rps6kb1
|
UTSW |
11 |
86,397,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3699:Rps6kb1
|
UTSW |
11 |
86,423,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Rps6kb1
|
UTSW |
11 |
86,410,702 (GRCm39) |
intron |
probably benign |
|
|
R4685:Rps6kb1
|
UTSW |
11 |
86,410,713 (GRCm39) |
splice site |
probably null |
|
|
R4727:Rps6kb1
|
UTSW |
11 |
86,435,484 (GRCm39) |
splice site |
probably null |
|
|
R4728:Rps6kb1
|
UTSW |
11 |
86,435,484 (GRCm39) |
splice site |
probably null |
|
|
R5450:Rps6kb1
|
UTSW |
11 |
86,423,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Rps6kb1
|
UTSW |
11 |
86,403,697 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5796:Rps6kb1
|
UTSW |
11 |
86,402,677 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5955:Rps6kb1
|
UTSW |
11 |
86,404,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Rps6kb1
|
UTSW |
11 |
86,397,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Rps6kb1
|
UTSW |
11 |
86,393,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7709:Rps6kb1
|
UTSW |
11 |
86,404,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Rps6kb1
|
UTSW |
11 |
86,426,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8366:Rps6kb1
|
UTSW |
11 |
86,402,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Rps6kb1
|
UTSW |
11 |
86,410,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9192:Rps6kb1
|
UTSW |
11 |
86,404,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Rps6kb1
|
UTSW |
11 |
86,408,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Rps6kb1
|
UTSW |
11 |
86,410,746 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAACACATTGCTCCGGG -3'
(R):5'- GACGCATTGAGCTTAAGCAG -3'
Sequencing Primer
(F):5'- TCAGCTAGGGATCAGGGC -3'
(R):5'- GCTTAAGCAGCCGGTGATG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation