|Institutional Source||Beutler Lab|
|Gene Name||dual specificity phosphatase 8|
|Is this an essential gene?||Probably non essential (E-score: 0.174)|
|Stock #||R6301 (G1)|
|Chromosomal Location||142079490-142095843 bp(-) (GRCm38)|
|Type of Mutation||unclassified (575 bp from exon)|
|DNA Base Change (assembly)||T to A at 142083019 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000114307 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039926] [ENSMUST00000143661]|
|Predicted Effect||probably damaging
AA Change: D278V
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: D278V
|Predicted Effect||noncoding transcript
|Predicted Effect||probably null
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered myocardial fiber morphology, mildly increased cardiac muscle contractility at baseline, and decreased response of heart to induced stress. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dusp8||
(F):5'- AGCGCTCTCTGAGGTAGATG -3'
(R):5'- GACGCATACAGGTATTCTCCTCC -3'
(F):5'- CTGAGGTAGATGGTGGCAGCC -3'
(R):5'- CTAGGGACCTAGGGAACACC -3'