|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 20|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6916 (G1)|
|Chromosomal Location||105678270-105687574 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 105680613 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 384 (N384D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000088176 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090680] [ENSMUST00000200078]|
|Predicted Effect||probably damaging
AA Change: N384D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N384D
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.286|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
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, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx20||
(F):5'- TGTCAGTCCCAATGTACCTAAG -3'
(R):5'- TTCTAGTTCTGGGAAAAGTGCTTTC -3'
(F):5'- TCAGTCCCAATGTACCTAAGAGTAAG -3'
(R):5'- CATTTGCTTTGAAATAGGTTTAGTCC -3'