|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 4|
|Synonyms||Mvh, VASA, mvh / m'vasa|
|Is this an essential gene?||Possibly essential (E-score: 0.708)|
|Stock #||R6645 (G1)|
|Chromosomal Location||112598333-112652475 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 112641174 bp|
|Amino Acid Change||Serine to Proline at position 62 (S62P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096769 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075748] [ENSMUST00000099166]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: S62P
PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: S62P
|Coding Region Coverage||
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. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx4||
(F):5'- TAGTTGGGCATACCTGTTCTC -3'
(R):5'- TTCAGCCTCCCAAGTAGCTTG -3'
(F):5'- CTTTAATCCCAGCATTCAGGAGG -3'
(R):5'- AAGTAGCTTGGATCTGTCACTTTTC -3'