|Institutional Source||Beutler Lab|
|Gene Name||dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.394)|
|Stock #||R1116 (G1)|
|Chromosomal Location||131127455-131138340 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 131129182 bp|
|Amino Acid Change||Alanine to Valine at position 418 (A418V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016670 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016670] [ENSMUST00000189756]|
|Predicted Effect||probably damaging
AA Change: A418V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A418V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5553|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased erythropoiesis in response to chemically-induced anemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dyrk3||
(F):5'- AGTAGTCACCACAGCCCTTCAGTG -3'
(R):5'- AAGTTCGCCCAGTCCATCCTACAG -3'
(F):5'- CGGTTGCCCAGTCTTTGC -3'
(R):5'- AAGGTCATCGACTTTGGCTC -3'