Incidental Mutation 'IGL02670:Sgk1'
| ID |
302892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgk1
|
| Ensembl Gene |
ENSMUSG00000019970 |
| Gene Name |
serum/glucocorticoid regulated kinase 1 |
| Synonyms |
Sgk |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
21758083-21875802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21804445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 92
(C92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120509]
|
| AlphaFold |
Q9WVC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120509
AA Change: C92S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114074
Gene: ENSMUSG00000019970
AA Change: C92S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:S_TKc
|
129 |
165 |
1e-9 |
BLAST |
|
low complexity region
|
166 |
173 |
N/A |
INTRINSIC |
|
S_TKc
|
191 |
448 |
6.15e-106 |
SMART |
|
S_TK_X
|
449 |
518 |
2.51e-19 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124203
AA Change: C26S
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. This enzyme is activated by protein phosphorylation and degraded via the ubiquitination and proteasome pathway. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 12. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display an essentially normal phenotype. Sodium retention is compromised on a low salt diet. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(143) : Targeted(6) Gene trapped(137)
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
| Other mutations in Sgk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02318:Sgk1
|
APN |
10 |
21,871,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Sgk1
|
APN |
10 |
21,873,290 (GRCm39) |
missense |
probably null |
1.00 |
|
R0010:Sgk1
|
UTSW |
10 |
21,873,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0010:Sgk1
|
UTSW |
10 |
21,873,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0467:Sgk1
|
UTSW |
10 |
21,872,257 (GRCm39) |
splice site |
probably benign |
|
|
R0479:Sgk1
|
UTSW |
10 |
21,872,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0650:Sgk1
|
UTSW |
10 |
21,758,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0652:Sgk1
|
UTSW |
10 |
21,758,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0688:Sgk1
|
UTSW |
10 |
21,874,059 (GRCm39) |
missense |
probably benign |
|
|
R0990:Sgk1
|
UTSW |
10 |
21,872,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Sgk1
|
UTSW |
10 |
21,873,007 (GRCm39) |
splice site |
probably benign |
|
|
R2009:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Sgk1
|
UTSW |
10 |
21,870,715 (GRCm39) |
missense |
probably benign |
|
|
R2915:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Sgk1
|
UTSW |
10 |
21,872,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Sgk1
|
UTSW |
10 |
21,873,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5974:Sgk1
|
UTSW |
10 |
21,872,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Sgk1
|
UTSW |
10 |
21,758,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7360:Sgk1
|
UTSW |
10 |
21,869,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7425:Sgk1
|
UTSW |
10 |
21,870,009 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7665:Sgk1
|
UTSW |
10 |
21,872,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Sgk1
|
UTSW |
10 |
21,870,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8252:Sgk1
|
UTSW |
10 |
21,873,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Sgk1
|
UTSW |
10 |
21,871,726 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9199:Sgk1
|
UTSW |
10 |
21,758,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9492:Sgk1
|
UTSW |
10 |
21,874,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9670:Sgk1
|
UTSW |
10 |
21,868,290 (GRCm39) |
frame shift |
probably null |
|
|
R9683:Sgk1
|
UTSW |
10 |
21,868,290 (GRCm39) |
frame shift |
probably null |
|
|
R9723:Sgk1
|
UTSW |
10 |
21,872,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation