|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4821 (G1)|
|Chromosomal Location||13216973-13249213 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 13239147 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 152 (Y152C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152513 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071103] [ENSMUST00000221623]|
|Predicted Effect||probably benign
AA Change: Y195C
PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: Y195C
|Predicted Effect||probably damaging
AA Change: Y152C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.0866|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
|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 of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx1||
(F):5'- TACGAAAGCACCAGGGCTAC -3'
(R):5'- GGAAGTGCTTCTTAAAGACAAGTG -3'
(F):5'- TTCTCTAGTAGTGTGCACGAC -3'
(R):5'- GATTACAGGAGCTAGCCACTATGC -3'