|Institutional Source||Beutler Lab|
|Gene Name||cytidine deaminase|
|Is this an essential gene?||Probably non essential (E-score: 0.172)|
|Stock #||R1302 (G1)|
|Chromosomal Location||138338424-138367992 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 138351191 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 87 (I87F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030535 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030535]|
|Predicted Effect||probably damaging
AA Change: I87F
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: I87F
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cda||
(F):5'- GGCCCTGTGTCTGCCAGGAA -3'
(R):5'- GCCCCAGTGTTCTCCAGTACTTCTAAA -3'
(F):5'- TCTGCCAGGAAGAACATGTACAATAG -3'
(R):5'- cccacagacaagaaaatcatcc -3'