Incidental Mutation 'IGL03395:Ado'
ID 421229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ado
Ensembl Gene ENSMUSG00000057134
Gene Name 2-aminoethanethiol dioxygenase
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL03395
Quality Score
Status
Chromosome 10
Chromosomal Location 67380341-67384785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67384368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 79 (Y79C)
Ref Sequence ENSEMBL: ENSMUSP00000075107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075686]
AlphaFold Q6PDY2
Predicted Effect probably benign
Transcript: ENSMUST00000075686
AA Change: Y79C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134
AA Change: Y79C

DomainStartEndE-ValueType
Pfam:DUF1637 45 254 2.7e-68 PFAM
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,746 (GRCm39) D308G probably damaging Het
Adgrg3 A T 8: 95,761,701 (GRCm39) I155F probably damaging Het
Aox1 T C 1: 58,107,884 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,734 (GRCm39) D165E probably damaging Het
Ccdc124 A C 8: 71,321,251 (GRCm39) M163R probably benign Het
Ceacam5 T C 7: 17,479,304 (GRCm39) probably benign Het
Cenpq A G 17: 41,234,449 (GRCm39) L247P probably damaging Het
Crat A G 2: 30,294,978 (GRCm39) V479A probably benign Het
Egfr T C 11: 16,860,261 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Emc9 C T 14: 55,822,197 (GRCm39) A72T probably benign Het
Fbxo5 G A 10: 5,751,935 (GRCm39) S226F probably benign Het
Gm42688 A C 6: 83,085,352 (GRCm39) E737D possibly damaging Het
Got1l1 G T 8: 27,690,885 (GRCm39) H54Q probably benign Het
Grid2 G A 6: 63,886,053 (GRCm39) V150I possibly damaging Het
Klc4 C T 17: 46,943,789 (GRCm39) V506M probably damaging Het
Lrrc8c A G 5: 105,754,495 (GRCm39) N90S probably benign Het
Lrrk2 T A 15: 91,681,617 (GRCm39) probably null Het
Mbd6 G A 10: 127,119,286 (GRCm39) R950C probably damaging Het
Nol11 A G 11: 107,066,548 (GRCm39) V414A probably benign Het
Or7e178 A T 9: 20,225,847 (GRCm39) M123K probably damaging Het
Pcnt T C 10: 76,272,325 (GRCm39) E177G possibly damaging Het
Pcnx2 G T 8: 126,614,262 (GRCm39) D396E probably benign Het
Pcyt2 A T 11: 120,503,876 (GRCm39) probably null Het
Pds5a T C 5: 65,809,792 (GRCm39) D390G possibly damaging Het
Pik3r2 T C 8: 71,224,999 (GRCm39) T155A probably benign Het
Rab31 T A 17: 66,003,362 (GRCm39) H95L probably benign Het
Rfx5 C T 3: 94,865,113 (GRCm39) R259* probably null Het
Slc6a17 T C 3: 107,384,622 (GRCm39) D285G probably damaging Het
Spats2l A T 1: 57,977,175 (GRCm39) I318F probably damaging Het
Spef1l G T 7: 139,556,589 (GRCm39) probably benign Het
Tcf12 A G 9: 71,783,304 (GRCm39) S361P probably damaging Het
Other mutations in Ado
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7692:Ado UTSW 10 67,384,265 (GRCm39) nonsense probably null
Posted On 2016-08-02