|Institutional Source||Beutler Lab|
|Gene Name||DEAH (Asp-Glu-Ala-His) box polypeptide 38|
|Synonyms||5730550P09Rik, Ddx38, Prp16|
|Is this an essential gene?||Probably essential (E-score: 0.967)|
|Stock #||R7569 (G1)|
|Chromosomal Location||109548011-109565861 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 109560695 bp|
|Amino Acid Change||Serine to Proline at position 214 (S214P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047865 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042601]|
|Predicted Effect||probably damaging
AA Change: S214P
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: S214P
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhx38||
(F):5'- CACTGAGCTGAACTGTGTCC -3'
(R):5'- AACAGGGGATCAGATCAACTC -3'
(F):5'- AGCTGAACTGTGTCCCCAGC -3'
(R):5'- TGGTTTACCAGGATCCACACGATG -3'