|Institutional Source||Beutler Lab|
|Gene Name||cell division cycle 73, Paf1/RNA polymerase II complex component|
|Synonyms||Hrpt2, 8430414L16Rik, C130030P16Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2208 (G1)|
|Chromosomal Location||143598800-143702893 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 143609382 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 516 (E516V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018337 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018337]|
|Predicted Effect||probably damaging
AA Change: E516V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: E516V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6458|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdc73||
(F):5'- TCTTGTGCCATCTAACAGGCTC -3'
(R):5'- CGTTTTGGCTGTTTCAGAGATCAC -3'
(F):5'- GTGCCATCTAACAGGCTCTAAACTTG -3'
(R):5'- GGCTGTTTCAGAGATCACTAATTAC -3'