|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 #||R3797 (G1)|
|Chromosomal Location||143598800-143702893 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 143677723 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 215 (D215E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018337 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018337]|
AA Change: D215E
PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D215E
|Meta Mutation Damage Score||0.1412|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
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'- ACCTTCACACAGTTTGAATAAGCC -3'
(R):5'- TTGTACTGAAAGAATCTTGGCTGTG -3'
(F):5'- TGAATAAGCCTCAAATTGACAGACTC -3'
(R):5'- GAAGCCATGTCAGTGGAA -3'