Incidental Mutation 'IGL02527:Cda'
ID 297149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cda
Ensembl Gene ENSMUSG00000028755
Gene Name cytidine deaminase
Synonyms 2210401N16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02527
Quality Score
Status
Chromosome 4
Chromosomal Location 138065735-138095303 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 138070832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 104 (Q104*)
Ref Sequence ENSEMBL: ENSMUSP00000030535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030535]
AlphaFold P56389
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 null
Transcript: ENSMUST00000030535
AA Change: Q104*
SMART Domains Protein: ENSMUSP00000030535
Gene: ENSMUSG00000028755
AA Change: Q104*

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_2 2 92 3.3e-12 PFAM
Pfam:dCMP_cyt_deam_1 12 118 1.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144986
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,638,392 (GRCm39) V868A probably damaging Het
Adam25 T A 8: 41,206,785 (GRCm39) I17K possibly damaging Het
Arap2 A T 5: 62,906,650 (GRCm39) M123K probably benign Het
Asic3 A G 5: 24,621,275 (GRCm39) M332V probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cand1 A T 10: 119,042,712 (GRCm39) M1126K probably damaging Het
Capn3 A G 2: 120,334,966 (GRCm39) T818A probably damaging Het
Cfhr4 T C 1: 139,680,783 (GRCm39) N245S probably damaging Het
Cpeb1 T C 7: 81,009,635 (GRCm39) D234G probably damaging Het
Cpq A G 15: 33,302,509 (GRCm39) Y220C probably damaging Het
Diaph3 T C 14: 87,047,795 (GRCm39) K1026R possibly damaging Het
Dpep1 T C 8: 123,925,487 (GRCm39) F47L probably damaging Het
Dppa4 G T 16: 48,109,456 (GRCm39) R66L possibly damaging Het
Elac1 C A 18: 73,880,304 (GRCm39) E31* probably null Het
Fggy A G 4: 95,585,306 (GRCm39) K62E probably damaging Het
Ficd T A 5: 113,875,027 (GRCm39) M32K probably benign Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Gnb4 G T 3: 32,644,015 (GRCm39) T181K probably benign Het
Grin2b T A 6: 135,900,389 (GRCm39) Y164F probably damaging Het
Hmmr A G 11: 40,598,932 (GRCm39) L564P probably damaging Het
Hsd17b4 G A 18: 50,293,231 (GRCm39) V257I probably benign Het
Itga10 C A 3: 96,562,940 (GRCm39) probably benign Het
Kcnk18 T C 19: 59,223,707 (GRCm39) V284A probably damaging Het
Klf11 T A 12: 24,705,322 (GRCm39) S259T probably benign Het
Kmt2d C T 15: 98,739,628 (GRCm39) probably benign Het
Manea A G 4: 26,336,619 (GRCm39) probably null Het
Mybl1 T C 1: 9,760,373 (GRCm39) H75R probably damaging Het
Neb G A 2: 52,153,959 (GRCm39) T2384M probably damaging Het
Neb A G 2: 52,039,225 (GRCm39) I6938T probably benign Het
Ntrk3 T C 7: 78,101,697 (GRCm39) D412G probably benign Het
Olah T C 2: 3,343,979 (GRCm39) E211G probably damaging Het
Or10ag2 T C 2: 87,249,181 (GRCm39) L261S probably damaging Het
Paxbp1 A T 16: 90,834,161 (GRCm39) N208K possibly damaging Het
Prrc1 T A 18: 57,522,419 (GRCm39) M417K probably benign Het
Ptprq G A 10: 107,522,424 (GRCm39) T543M probably benign Het
Rasal1 T C 5: 120,804,469 (GRCm39) V447A probably damaging Het
Rbl1 T C 2: 157,035,968 (GRCm39) E287G probably benign Het
Rusf1 T A 7: 127,875,403 (GRCm39) T317S possibly damaging Het
Tec A G 5: 72,936,758 (GRCm39) probably null Het
Tex26 A G 5: 149,380,407 (GRCm39) D61G probably damaging Het
Tgfb1i1 G A 7: 127,851,734 (GRCm39) probably benign Het
Tmem132c T C 5: 127,436,675 (GRCm39) Y55H possibly damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Umod C T 7: 119,068,690 (GRCm39) G452D probably damaging Het
Vcan G A 13: 89,838,776 (GRCm39) T2256I possibly damaging Het
Vmn1r31 A T 6: 58,449,778 (GRCm39) I29K probably benign Het
Vmn2r117 A G 17: 23,696,199 (GRCm39) Y403H possibly damaging Het
Vmn2r124 A T 17: 18,286,764 (GRCm39) probably null Het
Vmn2r65 T A 7: 84,595,724 (GRCm39) K320M possibly damaging Het
Other mutations in Cda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cda APN 4 138,095,157 (GRCm39) missense probably damaging 1.00
R1302:Cda UTSW 4 138,078,502 (GRCm39) missense probably damaging 1.00
R6743:Cda UTSW 4 138,066,253 (GRCm39) missense probably benign 0.04
R9385:Cda UTSW 4 138,078,598 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16