|Institutional Source||Beutler Lab|
|Gene Name||CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1|
|Is this an essential gene?||Probably essential (E-score: 0.953)|
|Stock #||R1988 (G1)|
|Chromosomal Location||80407959-80469695 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 80449401 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 626 (D626E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036229]|
|Predicted Effect||possibly damaging
AA Change: D626E
PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D626E
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctdp1||
(F):5'- GAGTACTACAGCTGCATGTCC -3'
(R):5'- AGTCCCTAGATCAGAGTGTCG -3'
(F):5'- AGCTGCATGTCCCCACC -3'
(R):5'- CCTAGATCAGAGTGTCGGGGAG -3'