|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 25|
|Is this an essential gene?||Probably non essential (E-score: 0.235)|
|Stock #||R3055 (G1)|
|Chromosomal Location||35536647-35558528 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 35551351 bp|
|Amino Acid Change||Valine to Alanine at position 246 (V246A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034612 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034612]|
|Predicted Effect||probably damaging
AA Change: V246A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V246A
|Meta Mutation Damage Score||0.7611|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
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 encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility, arrest of spermatogenesis at step 8, abnormal Leydig cells, and increased germ cell apoptosis in males. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx25||
(F):5'- CCTGCACTGCAAATGTAAAGCC -3'
(R):5'- TGGCTTGTGTCCCATTAGAG -3'
(F):5'- ACAGTAGTCTGAAGGACCCCTG -3'
(R):5'- GTCCCATTAGAGTGAGTAGGTC -3'