|Institutional Source||Beutler Lab|
|Gene Name||DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31|
|Is this an essential gene?||Possibly essential (E-score: 0.730)|
|Stock #||R5450 (G1)|
|Chromosomal Location||28840406-28905571 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 28886969 bp|
|Amino Acid Change||Serine to Proline at position 567 (S567P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109484 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113853]|
|Predicted Effect||probably damaging
AA Change: S567P
PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: S567P
|Meta Mutation Damage Score||0.432|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
|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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx31||
(F):5'- GGAAAACTCCAGAGTGCCAC -3'
(R):5'- TCTGAGCCTGCTTCCAAACC -3'
(F):5'- GAGTGCCACCAAAGGTCTTTTAC -3'
(R):5'- TGCACAATTACTGCAGAATGAAGGC -3'