Incidental Mutation 'R1063:Cdo1'
ID 85944
Institutional Source Beutler Lab
Gene Symbol Cdo1
Ensembl Gene ENSMUSG00000033022
Gene Name cysteine dioxygenase 1, cytosolic
Synonyms D18Ucla3, 1300002L19Rik, Cdo
MMRRC Submission 039149-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R1063 (G1)
Quality Score 184
Status Not validated
Chromosome 18
Chromosomal Location 46846260-46861462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46861130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 27 (E27G)
Ref Sequence ENSEMBL: ENSMUSP00000046517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035648] [ENSMUST00000035804]
AlphaFold P60334
PDB Structure X-RAY STRUCTURE OF cysteine dioxygenase type I FROM MUS MUSCULUS MM.241056 [X-RAY DIFFRACTION]
Ensemble refinement of the protein crystal structure of cysteine dioxygenase type I from Mus musculus Mm.241056 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000035648
SMART Domains Protein: ENSMUSP00000038489
Gene: ENSMUSG00000032905

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:Atg8 51 140 9.4e-6 PFAM
Pfam:APG12 55 140 4.6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035804
AA Change: E27G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000046517
Gene: ENSMUSG00000033022
AA Change: E27G

DomainStartEndE-ValueType
Pfam:CDO_I 1 170 3e-81 PFAM
Pfam:DUF1637 26 184 9e-9 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a deletion of this gene show increased preweaning mortality, lower body weight, behavioral defects, skeletal defects, homeostatic and reproductive defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 3 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Other mutations in Cdo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0505:Cdo1 UTSW 18 46,848,678 (GRCm39) missense probably benign 0.02
R0846:Cdo1 UTSW 18 46,848,812 (GRCm39) missense probably damaging 0.99
R1062:Cdo1 UTSW 18 46,861,130 (GRCm39) missense probably benign 0.00
R1526:Cdo1 UTSW 18 46,861,130 (GRCm39) missense probably benign 0.00
R1815:Cdo1 UTSW 18 46,853,369 (GRCm39) missense probably damaging 0.99
R6317:Cdo1 UTSW 18 46,861,104 (GRCm39) missense probably benign
R6899:Cdo1 UTSW 18 46,856,407 (GRCm39) missense probably damaging 1.00
R6996:Cdo1 UTSW 18 46,853,380 (GRCm39) missense possibly damaging 0.60
R7032:Cdo1 UTSW 18 46,853,475 (GRCm39) missense probably damaging 1.00
R7073:Cdo1 UTSW 18 46,861,266 (GRCm39) start gained probably benign
R7898:Cdo1 UTSW 18 46,861,157 (GRCm39) missense probably benign 0.00
R9562:Cdo1 UTSW 18 46,861,104 (GRCm39) missense probably benign
X0064:Cdo1 UTSW 18 46,853,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGAAAATCTGAGAGCCGTGCAG -3'
(R):5'- GCGGTTGGTACGTTCTAGATGACTC -3'

Sequencing Primer
(F):5'- CCGTGCAGAGGTGGGATG -3'
(R):5'- GTACGTTCTAGATGACTCCAAGAG -3'
Posted On 2013-11-18