|Institutional Source||Beutler Lab|
|Gene Name||DEAH (Asp-Glu-Ala-His) box polypeptide 33|
|Synonyms||9430096J02Rik, 3110057P17Rik, Ddx33|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9721 (G1)|
|Chromosomal Location||70984091-71004437 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 71001598 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 115 (V115A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104167 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108527] [ENSMUST00000124464]|
AA Change: V115A
PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: V115A
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. The DEAD box proteins are 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhx33||
(F):5'- GCAGAGAAAGAACTTGTTCGGAA -3'
(R):5'- GTGACTGTTCGCCAGCCA -3'
(F):5'- CTTGTTCGGAAAAATAAAAGGCTG -3'
(R):5'- CTGAGGCTTAGCAACTCAGTG -3'