Incidental Mutation 'R7692:Ado'
ID 593457
Institutional Source Beutler Lab
Gene Symbol Ado
Ensembl Gene ENSMUSG00000057134
Gene Name 2-aminoethanethiol dioxygenase
Synonyms
MMRRC Submission 045756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R7692 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 67380341-67384785 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 67384265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 113 (Y113*)
Ref Sequence ENSEMBL: ENSMUSP00000075107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075686]
AlphaFold Q6PDY2
Predicted Effect probably null
Transcript: ENSMUST00000075686
AA Change: Y113*
SMART Domains Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134
AA Change: Y113*

DomainStartEndE-ValueType
Pfam:DUF1637 45 254 2.7e-68 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,973,832 (GRCm39) T390I probably benign Het
Adgb A G 10: 10,287,456 (GRCm39) probably null Het
Angptl1 A G 1: 156,672,885 (GRCm39) E237G probably damaging Het
Arid2 T A 15: 96,254,578 (GRCm39) Y141* probably null Het
Clvs1 T C 4: 9,350,739 (GRCm39) I183T probably benign Het
Dnah1 T C 14: 31,014,295 (GRCm39) K1817E probably benign Het
Eif3e C A 15: 43,126,642 (GRCm39) R271L probably damaging Het
Eml6 A G 11: 29,703,085 (GRCm39) V1611A probably damaging Het
Enpp3 G T 10: 24,660,739 (GRCm39) Y634* probably null Het
Evi5l C T 8: 4,250,886 (GRCm39) R394W probably damaging Het
Fcgr3 A C 1: 170,881,661 (GRCm39) F156V probably damaging Het
Fmo1 T A 1: 162,661,402 (GRCm39) T294S probably benign Het
Gabrb3 A G 7: 57,466,203 (GRCm39) Q339R probably damaging Het
Gen1 T A 12: 11,292,167 (GRCm39) T606S probably benign Het
Gfod1 T C 13: 43,354,528 (GRCm39) Q149R probably benign Het
Golm1 A G 13: 59,788,071 (GRCm39) V276A probably benign Het
Hc C A 2: 34,914,161 (GRCm39) V849F probably damaging Het
Hectd4 T C 5: 121,459,627 (GRCm39) I832T possibly damaging Het
Hspa14 T C 2: 3,497,643 (GRCm39) D283G probably damaging Het
Lztfl1 C T 9: 123,541,536 (GRCm39) W94* probably null Het
Lzts3 T C 2: 130,477,306 (GRCm39) S381G probably benign Het
Mgat2 A G 12: 69,231,444 (GRCm39) Y6C probably damaging Het
Mrpl30 T C 1: 37,934,439 (GRCm39) I27T probably benign Het
Muc5b A T 7: 141,406,966 (GRCm39) T1045S unknown Het
Nlrp4a G A 7: 26,148,690 (GRCm39) R99Q probably benign Het
Or10g1 T C 14: 52,647,945 (GRCm39) Y128C probably damaging Het
Or5b98 A G 19: 12,931,006 (GRCm39) T18A possibly damaging Het
Phlpp1 T C 1: 106,209,132 (GRCm39) L495P probably damaging Het
Pla2g4d T C 2: 120,109,776 (GRCm39) D178G possibly damaging Het
Prl5a1 C G 13: 28,333,997 (GRCm39) L167V probably damaging Het
Sardh A G 2: 27,087,651 (GRCm39) V740A probably benign Het
Sbno1 T G 5: 124,543,709 (GRCm39) T277P probably benign Het
Slc2a1 T C 4: 118,993,462 (GRCm39) V433A probably damaging Het
Slc4a10 T C 2: 62,134,308 (GRCm39) V1008A possibly damaging Het
Smarcal1 T G 1: 72,625,179 (GRCm39) S109A probably benign Het
Speg A G 1: 75,377,834 (GRCm39) D864G probably benign Het
Steap4 T C 5: 8,026,976 (GRCm39) I313T probably benign Het
Tab2 A T 10: 7,786,869 (GRCm39) D614E probably damaging Het
Tenm4 A G 7: 96,544,610 (GRCm39) K2246E probably damaging Het
Timm23 A G 14: 31,902,520 (GRCm39) S208P probably damaging Het
Tmem229a C A 6: 24,955,211 (GRCm39) C181F probably benign Het
Ugdh T C 5: 65,574,958 (GRCm39) Y356C probably damaging Het
Ugt2a1 A G 5: 87,634,586 (GRCm39) L7P probably damaging Het
Uhrf1 A G 17: 56,619,905 (GRCm39) D272G possibly damaging Het
Vmn1r206 T A 13: 22,804,827 (GRCm39) I127F probably damaging Het
Vmn2r106 T C 17: 20,505,490 (GRCm39) Y68C possibly damaging Het
Zfand6 G A 7: 84,283,141 (GRCm39) P72L not run Het
Other mutations in Ado
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03395:Ado APN 10 67,384,368 (GRCm39) missense probably benign 0.01
depressive UTSW 10 67,384,371 (GRCm39) missense probably damaging 1.00
R0020:Ado UTSW 10 67,383,927 (GRCm39) missense probably benign 0.00
R0316:Ado UTSW 10 67,384,548 (GRCm39) missense possibly damaging 0.95
R0624:Ado UTSW 10 67,384,058 (GRCm39) missense probably benign 0.20
R4889:Ado UTSW 10 67,384,135 (GRCm39) missense probably benign 0.01
R6438:Ado UTSW 10 67,384,371 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACGGCATCAATCTGGTG -3'
(R):5'- ACAACATGGCCTCCCTGATC -3'

Sequencing Primer
(F):5'- AATCTGGTGCAGGTTGTCCC -3'
(R):5'- TCAAGAGCCTGCTGACCCAG -3'
Posted On 2019-11-12