|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 28|
|Essential gene?||Probably essential (E-score: 0.931)|
|Stock #||R0362 (G1)|
|Chromosomal Location||106009621-106011882 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 106011294 bp (GRCm38)|
|Amino Acid Change||Arginine to Glutamine at position 44 (R44Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058950 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034375] [ENSMUST00000058579] [ENSMUST00000119736] [ENSMUST00000142898]|
AA Change: R44Q
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: R44Q
|Meta Mutation Damage Score||0.1553|
|Coding Region Coverage||
|Validation Efficiency||99% (104/105)|
|MGI Phenotype||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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx28||
(F):5'- AAGCGTCTTGCCACTGCCAGTTTC -3'
(R):5'- AGATGACTCCAATCTGGACATCGCC -3'
(F):5'- AGGTTGGCTGCACAACTTC -3'
(R):5'- GGTGGAAACCTACAGACCTCG -3'