|Institutional Source||Beutler Lab|
|Gene Name||WD repeat containing, antisense to Trp53|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6537 (G1)|
|Chromosomal Location||69561758-69580255 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 69563868 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 225 (D225G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047825 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004036] [ENSMUST00000048139]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: D225G
PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: D225G
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||100% (30/30)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wrap53||
(F):5'- GGCTCTGACTGTCAAAAGGG -3'
(R):5'- AGTTGCGTTCTTTGAGCCCC -3'
(F):5'- GGAACCAAGTGCCCAGC -3'
(R):5'- GCGTGCTCTTTCCTACCTGGATAG -3'