|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 42|
|Synonyms||B430002H05Rik, SF3b125, 1810047H21Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2519 (G1)|
|Chromosomal Location||106216926-106249139 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 106245329 bp|
|Amino Acid Change||Asparagine to Lysine at position 635 (N635K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048]|
|Predicted Effect||probably damaging
AA Change: N635K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N635K
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2586|
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and 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. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx42||
(F):5'- GCACCGAAGCACACTGATAAATTTG -3'
(R):5'- CTCATGAGGCTCAGGTACAG -3'
(F):5'- CTAATCCCAGTCCTTAGGAAGTGG -3'
(R):5'- TCATGAGGCTCAGGTACAGCAAATC -3'