|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 21|
|Synonyms||D10Wsu42e, RH II/Gu, D10Ertd645e, RH-II/Gualpha|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7517 (G1)|
|Chromosomal Location||62580251-62602281 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 62588790 bp|
|Amino Acid Change||Proline to Leucine at position 544 (P544L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042691 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045866]|
|PDB Structure||Gu_alpha_helicase [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: P544L
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: P544L
|Meta Mutation Damage Score||0.2362|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx21||
(F):5'- GCCTGAAAACTGCATAAAAGTCAG -3'
(R):5'- GTGCAAGAAGACATCTGCTCTTC -3'
(F):5'- GTCAGTGAAAGGACTTTTAGTAACAC -3'
(R):5'- AGAGGTCTTGAGTTCCCTGCAAC -3'