|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 58|
|Is this an essential gene?||Probably non essential (E-score: 0.196)|
|Stock #||R7729 (G1)|
|Chromosomal Location||40203773-40239828 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 40206034 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 853 (I853F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042433 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037907] [ENSMUST00000142055]|
|Predicted Effect||possibly damaging
AA Change: I853F
PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: I853F
|Predicted Effect||probably benign
|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 which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null allele die in utero with liver apoptosis while survivors show impaired IFN induction and succumb to infection with certain RNA viruses. Homozygotes for another null allele are viable but develop colitis and progressive granulocytosis leading to chronic myeloid leukemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx58||
(F):5'- AGAAGCCTGAGGTCATACGG -3'
(R):5'- GGATCCCACTCATTCCTGAC -3'
(F):5'- ACGGACATTTCTGCAGGATC -3'
(R):5'- CCTGACTTTTAGCTACTGAGTGGC -3'