Incidental Mutation 'R1526:Cdo1'
ID 167476
Institutional Source Beutler Lab
Gene Symbol Cdo1
Ensembl Gene ENSMUSG00000033022
Gene Name cysteine dioxygenase 1, cytosolic
Synonyms D18Ucla3, 1300002L19Rik, Cdo
MMRRC Submission 039566-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.357) question?
Stock # R1526 (G1)
Quality Score 174
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: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 G T 12: 21,235,188 (GRCm39) A97S probably damaging Het
Brd10 T C 19: 29,712,545 (GRCm39) K785E probably damaging Het
C1qtnf1 A T 11: 118,334,616 (GRCm39) E32V possibly damaging Het
Ccdc81 A G 7: 89,525,081 (GRCm39) L500P probably damaging Het
Ceacam5 G A 7: 17,484,620 (GRCm39) G454D probably damaging Het
Cemip T C 7: 83,600,648 (GRCm39) D991G probably damaging Het
Cep170 A C 1: 176,616,071 (GRCm39) I79S probably damaging Het
Cep19 A G 16: 31,926,039 (GRCm39) Q149R possibly damaging Het
Cideb A T 14: 55,992,619 (GRCm39) L99* probably null Het
Cntnap5a A G 1: 116,356,207 (GRCm39) N746S probably benign Het
Col12a1 T C 9: 79,564,080 (GRCm39) N1715S probably benign Het
Col3a1 T C 1: 45,360,848 (GRCm39) S93P unknown Het
Csmd3 C A 15: 47,449,028 (GRCm39) probably null Het
Disp3 T C 4: 148,344,373 (GRCm39) I510V probably benign Het
Drosha T A 15: 12,914,070 (GRCm39) V1115E probably damaging Het
Dzip3 A C 16: 48,757,369 (GRCm39) L888R probably damaging Het
Emx2 C A 19: 59,452,442 (GRCm39) A242E probably benign Het
Fto G A 8: 92,168,314 (GRCm39) E256K possibly damaging Het
Gabrb2 A C 11: 42,482,715 (GRCm39) Y191S possibly damaging Het
Gm6526 A T 14: 43,987,394 (GRCm39) H110L probably damaging Het
Grin3b T A 10: 79,810,436 (GRCm39) N647K probably damaging Het
Ifit2 T G 19: 34,550,602 (GRCm39) S47R probably benign Het
Il5ra A T 6: 106,712,781 (GRCm39) V244E possibly damaging Het
Inppl1 A G 7: 101,482,153 (GRCm39) L141P probably benign Het
Iws1 A G 18: 32,213,178 (GRCm39) D202G probably benign Het
Kctd4 A C 14: 76,200,523 (GRCm39) I165L probably benign Het
Lrch3 G A 16: 32,770,746 (GRCm39) C116Y probably damaging Het
Mettl25 T C 10: 105,668,844 (GRCm39) T93A possibly damaging Het
Mgat4d A G 8: 84,095,666 (GRCm39) I314V probably benign Het
Mrgprb4 A T 7: 47,848,159 (GRCm39) Y256* probably null Het
Myo9b G T 8: 71,808,408 (GRCm39) V1672L probably damaging Het
Nek1 C T 8: 61,502,975 (GRCm39) P449L probably benign Het
Nucb2 G A 7: 116,123,642 (GRCm39) probably null Het
Obscn T C 11: 58,919,412 (GRCm39) Y6864C probably damaging Het
Omt2b A T 9: 78,235,420 (GRCm39) probably benign Het
Or2y3 T A 17: 38,393,486 (GRCm39) I128F probably damaging Het
Or4p18 C T 2: 88,232,777 (GRCm39) C167Y probably damaging Het
Or5ac15 G A 16: 58,940,293 (GRCm39) L47F probably damaging Het
Or6c208 A G 10: 129,224,176 (GRCm39) K225E probably benign Het
Otogl G T 10: 107,705,387 (GRCm39) P647T probably damaging Het
Oxnad1 A G 14: 31,824,244 (GRCm39) D271G probably benign Het
Pbx3 T C 2: 34,261,776 (GRCm39) I53V probably damaging Het
Pds5b T A 5: 150,639,865 (GRCm39) probably null Het
Ppp4r3a A T 12: 101,007,000 (GRCm39) D810E probably damaging Het
Ptpro A T 6: 137,438,724 (GRCm39) D1189V probably damaging Het
Ryr3 T C 2: 112,492,002 (GRCm39) N3758S probably damaging Het
Scarb2 G A 5: 92,594,200 (GRCm39) T454M possibly damaging Het
Sec23a A C 12: 59,032,972 (GRCm39) probably null Het
Spire2 C T 8: 124,095,502 (GRCm39) A535V probably benign Het
Svopl A T 6: 38,006,570 (GRCm39) F142L probably benign Het
Tas2r144 T C 6: 42,192,674 (GRCm39) I138T probably benign Het
Tbc1d15 A G 10: 115,039,135 (GRCm39) M535T probably benign Het
Tnfaip1 C T 11: 78,420,971 (GRCm39) V30M possibly damaging Het
Topaz1 T A 9: 122,625,108 (GRCm39) W1398R probably damaging Het
Tpo A G 12: 30,134,694 (GRCm39) S755P probably damaging Het
Ttn G T 2: 76,606,460 (GRCm39) S18116R probably damaging Het
Vmn2r78 A G 7: 86,571,465 (GRCm39) probably null Het
Wdr49 T A 3: 75,304,227 (GRCm39) K494M probably benign Het
Yeats2 A G 16: 20,024,836 (GRCm39) M697V probably damaging Het
Zfp407 G A 18: 84,579,158 (GRCm39) P652S possibly damaging Het
Zfp462 A G 4: 55,009,002 (GRCm39) M323V probably benign Het
Zfp629 G T 7: 127,209,931 (GRCm39) P626Q possibly damaging Het
Zfp804a A T 2: 82,088,532 (GRCm39) Y787F probably benign 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
R1063: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 2014-04-13