|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 18|
|Is this an essential gene?||Probably essential (E-score: 0.973)|
|Stock #||R7949 (G1)|
|Chromosomal Location||121553835-121567989 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 121555318 bp|
|Amino Acid Change||Tyrosine to Histidine at position 580 (Y580H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001724 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001724]|
|Predicted Effect||probably damaging
AA Change: Y580H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y580H
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
|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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx18||
(F):5'- TCCAACTTACTGCAGAGCC -3'
(R):5'- ATGCTGGCTTGGACTCTGAG -3'
(F):5'- TTACTGCAGAGCCCCAGCAG -3'
(R):5'- AACCTCAGTCTGGCACCTGTG -3'