Incidental Mutation 'IGL00233:Cda'
ID306833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cda
Ensembl Gene ENSMUSG00000028755
Gene Namecytidine deaminase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL00233
Quality Score
Status
Chromosome4
Chromosomal Location138338424-138367992 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138367846 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 33 (Y33C)
Ref Sequence ENSEMBL: ENSMUSP00000030535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030535]
PDB Structure
Crystal Structure of Mouse Cytidine Deaminase Complexed with 3-Deazauridine [X-RAY DIFFRACTION]
Crystal Structure of Mouse Cytidine Deaminase Complexed with Tetrahydrouridine [X-RAY DIFFRACTION]
Crystal Structure of Mouse Cytidine Deaminase Complexed with Cytidine [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000030535
AA Change: Y33C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030535
Gene: ENSMUSG00000028755
AA Change: Y33C

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_2 2 92 3.3e-12 PFAM
Pfam:dCMP_cyt_deam_1 12 118 1.9e-18 PFAM
Coding Region Coverage
Validation Efficiency
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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Cda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02527:Cda APN 4 138343521 nonsense probably null
R1302:Cda UTSW 4 138351191 missense probably damaging 1.00
R6743:Cda UTSW 4 138338942 missense probably benign 0.04
Posted On2015-04-16