|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked|
|Synonyms||Dby, D1Pas1-rs1, 8030469F12Rik|
|Essential gene?||Probably non essential (E-score: 0.029)|
|Stock #||R3973 (G1)|
|Chromosomal Location||1260771-1286629 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 1267170 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 232 (A232V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088729 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091190] [ENSMUST00000188484]|
AA Change: A232V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A232V
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx3y||
(F):5'- CCACAGTGCCACATGTAATTTAAG -3'
(R):5'- TGCTTCACATAGTCATAGACCAGG -3'
(F):5'- TTGAACTGGAAACACACAAATGTCTC -3'
(R):5'- CCAGGATGACCTTAGGCTTACTAG -3'