|Institutional Source||Beutler Lab|
|Gene Name||polymerase (RNA) II (DNA directed) polypeptide E|
|Synonyms||25kDa, XAP4, RPB5|
|Is this an essential gene?||Probably essential (E-score: 0.954)|
|Stock #||R7599 (G1)|
|Chromosomal Location||80035949-80039795 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80038570 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 34 (D34G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004786 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004786]|
|Predicted Effect||possibly damaging
AA Change: D34G
PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: D34G
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Polr2e||
(F):5'- ATCTTACAGGCAGCGTTAGGC -3'
(R):5'- GGTCTGAGCCTATACAGAGTTTGG -3'
(F):5'- ATGCATTCACTGGCACCTGAG -3'
(R):5'- AGCCTATACAGAGTTTGGGTACTGC -3'