|Institutional Source||Beutler Lab|
|Gene Name||cell division cycle 40|
|Synonyms||PRP17, 1200003H23Rik, EHB3|
|Is this an essential gene?||Probably essential (E-score: 0.972)|
|Stock #||R7834 (G1)|
|Chromosomal Location||40831621-40883311 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 40882949 bp (GRCm38)|
|Amino Acid Change||Serine to Threonine at position 43 (S43T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044305 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019975] [ENSMUST00000044166] [ENSMUST00000105509]|
AA Change: S43T
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: S43T
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdc40||
(F):5'- CTTCTAATCGTCAAGGAGGATGTG -3'
(R):5'- GACAATCTGACAGGACCTGG -3'
(F):5'- TGGGAAGAGATGTAAACGCTAGTTAC -3'
(R):5'- TCTGACAGGACCTGGGAGAC -3'