Incidental Mutation 'R6438:Ado'
ID 518862
Institutional Source Beutler Lab
Gene Symbol Ado
Ensembl Gene ENSMUSG00000057134
Gene Name 2-aminoethanethiol dioxygenase
Synonyms
MMRRC Submission 044576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R6438 (G1)
Quality Score 106.008
Status Validated
Chromosome 10
Chromosomal Location 67380341-67384785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67384371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 78 (I78N)
Ref Sequence ENSEMBL: ENSMUSP00000075107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075686]
AlphaFold Q6PDY2
Predicted Effect probably damaging
Transcript: ENSMUST00000075686
AA Change: I78N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134
AA Change: I78N

DomainStartEndE-ValueType
Pfam:DUF1637 45 254 2.7e-68 PFAM
Meta Mutation Damage Score 0.7431 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap18 T C 10: 26,648,694 (GRCm39) probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atxn2 T A 5: 121,917,495 (GRCm39) I463N probably damaging Het
B3gnt4 G A 5: 123,649,654 (GRCm39) E340K probably benign Het
C1ra C T 6: 124,490,736 (GRCm39) T43I possibly damaging Het
C6 T A 15: 4,826,465 (GRCm39) Y683N possibly damaging Het
Catspere2 T C 1: 177,938,869 (GRCm39) Y581H possibly damaging Het
Cdk12 T A 11: 98,115,293 (GRCm39) Y811* probably null Het
Cfap20dc C T 14: 8,431,701 (GRCm38) V644M probably damaging Het
Chd9 A T 8: 91,725,149 (GRCm39) E1159D probably benign Het
Efcab7 T A 4: 99,766,969 (GRCm39) S505T probably benign Het
Erich3 A T 3: 154,401,390 (GRCm39) Y13F probably damaging Het
Esco1 A T 18: 10,572,031 (GRCm39) C770S probably damaging Het
Evpl C A 11: 116,120,927 (GRCm39) R436L probably benign Het
Fam185a T A 5: 21,663,970 (GRCm39) probably null Het
Gm17078 A G 14: 51,848,695 (GRCm39) V14A probably benign Het
Hectd2 T C 19: 36,596,242 (GRCm39) *776Q probably null Het
Ldb2 T C 5: 44,637,652 (GRCm39) R219G probably damaging Het
Lrrn4 T C 2: 132,712,062 (GRCm39) E587G probably damaging Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Map7 A G 10: 20,143,003 (GRCm39) E384G unknown Het
Miga1 T C 3: 152,028,040 (GRCm39) D163G probably damaging Het
Myo7b G A 18: 32,099,382 (GRCm39) S1680F probably damaging Het
Nell2 C T 15: 95,130,379 (GRCm39) V665M probably damaging Het
Npas3 T C 12: 54,115,481 (GRCm39) V770A probably damaging Het
Pcm1 C T 8: 41,778,418 (GRCm39) R1818W possibly damaging Het
Slc4a9 T A 18: 36,668,740 (GRCm39) N701K probably benign Het
Slc5a9 A G 4: 111,749,022 (GRCm39) V187A probably benign Het
Slf1 A T 13: 77,214,725 (GRCm39) C654S probably damaging Het
Srek1ip1 A G 13: 104,973,878 (GRCm39) Y95C probably benign Het
Synpo2l A G 14: 20,711,204 (GRCm39) V472A probably benign Het
Tmem168 A T 6: 13,602,673 (GRCm39) I231N probably benign Het
Usp34 T C 11: 23,314,266 (GRCm39) M717T probably benign Het
Zfp672 T C 11: 58,207,563 (GRCm39) T253A probably benign 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
R7692:Ado UTSW 10 67,384,265 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACGGCATCAATCTGGTGCAG -3'
(R):5'- ACAACATGGCCTCCCTGATC -3'

Sequencing Primer
(F):5'- AATCTGGTGCAGGTTGTCCC -3'
(R):5'- AGGCGTGTCTCACCTTCCG -3'
Posted On 2018-05-24