|Institutional Source||Beutler Lab|
|Gene Name||serum/glucocorticoid regulated kinase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0650 (G1)|
|Chromosomal Location||21882184-21999903 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 21882657 bp (GRCm38)|
|Amino Acid Change||Asparagine to Aspartic acid at position 7 (N7D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000114074 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000120509]|
AA Change: N7D
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: N7D
|Meta Mutation Damage Score||0.1005|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
Strain: 3846797; 2445418
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|
|Other mutations in this stock||
|Other mutations in Sgk1||
(F):5'- CTGGATAGATTTGCTGTATCCCGCC -3'
(R):5'- TGACACCAGAAGCTCTGCTTTCAC -3'
(F):5'- ATTGCCAGTGGCCTCTGAAAG -3'
(R):5'- TTTCACGAAGGGCTCAGTAAC -3'