|Institutional Source||Beutler Lab|
|Gene Name||YTH domain containing 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6399 (G1)|
|Chromosomal Location||44827746-44889724 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 44886402 bp|
|Amino Acid Change||Glutamine to Lysine at position 1413 (Q1413K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048340 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037763] [ENSMUST00000201507]|
|Predicted Effect||possibly damaging
AA Change: Q1413K
PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: Q1413K
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||97% (28/29)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ythdc2||
(F):5'- CTTCCAAAATTTGATAAAGCAGCTC -3'
(R):5'- GACATGTGGAAGCACACGC -3'
(F):5'- TGATAAAGCAGCTCTTATAGTTCTTG -3'
(R):5'- GCACACGCTTATGTTTTTATAAACC -3'