|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 41|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7640 (G1)|
|Chromosomal Location||55530410-55536658 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 55534239 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 241 (M241K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021956 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000223563] [ENSMUST00000224765]|
AA Change: M241K
PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: M241K
AA Change: M252K
PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
|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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx41||
(F):5'- CGGCAGTAATACTCCAGGATGC -3'
(R):5'- ATTCAGATCCAGGGCATCCC -3'
(F):5'- TAATACTCCAGGATGCCGTGG -3'
(R):5'- CATCCCTACCATGTAAGTGTGGG -3'