|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 10|
|Is this an essential gene?||Probably essential (E-score: 0.961)|
|Stock #||R1781 (G1)|
|Chromosomal Location||53098635-53248053 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 53207545 bp|
|Amino Acid Change||Serine to Proline at position 475 (S475P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065198 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065630]|
|Predicted Effect||probably damaging
AA Change: S475P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S475P
|Meta Mutation Damage Score||0.356|
|Coding Region Coverage||
|Validation Efficiency||97% (88/91)|
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, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit craniofacial defects, including decreased cranium length, cleft palate, and short snout, and show reduced body size, body weight, lean body mass, and bone mineral content. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx10||
(F):5'- TGCTTCTCTGCAAATTTTCAATGGACTG -3'
(R):5'- TGCATTTAGAAAATGGTGTTTGCTCAGC -3'
(F):5'- TGGACTGTTCTAAAGCAGAATAATC -3'
(R):5'- atttctaagtctctcccctctcc -3'