Incidental Mutation 'R5833:Adi1'
ID 449417
Institutional Source Beutler Lab
Gene Symbol Adi1
Ensembl Gene ENSMUSG00000020629
Gene Name acireductone dioxygenase 1
Synonyms
MMRRC Submission 043221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R5833 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 28725230-28732174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28731041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 166 (D166G)
Ref Sequence ENSEMBL: ENSMUSP00000020957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020957]
AlphaFold Q99JT9
PDB Structure Crystal structure of Acireductone dioxygenase (13543033) from Mus musculus at 2.06 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000020957
AA Change: D166G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000020957
Gene: ENSMUSG00000020629
AA Change: D166G

DomainStartEndE-ValueType
Pfam:ARD 3 157 6.7e-64 PFAM
Pfam:AraC_binding 78 156 1.3e-8 PFAM
Pfam:Cupin_2 81 151 2.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135772
SMART Domains Protein: ENSMUSP00000122965
Gene: ENSMUSG00000020629

DomainStartEndE-ValueType
Pfam:ARD 18 139 3.2e-55 PFAM
Pfam:AraC_binding 59 138 1.9e-8 PFAM
Pfam:Cupin_2 63 133 3.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184974
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 95.7%
  • 20x: 84.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcb4 T C 5: 9,008,314 (GRCm39) Y1161H probably damaging Het
Adcy2 T A 13: 68,886,722 (GRCm39) M276L probably benign Het
Arhgap44 T G 11: 64,929,503 (GRCm39) E267A probably damaging Het
Arl11 T A 14: 61,548,511 (GRCm39) L107Q probably damaging Het
C1qtnf3 A G 15: 10,975,716 (GRCm39) D247G probably benign Het
C4b T C 17: 34,949,647 (GRCm39) D1481G probably damaging Het
Cacna1a T C 8: 85,245,326 (GRCm39) F242L probably damaging Het
Ccnl1 T C 3: 65,855,922 (GRCm39) K298E probably benign Het
Dcaf5 A G 12: 80,395,203 (GRCm39) V322A probably damaging Het
Ddr2 T C 1: 169,832,265 (GRCm39) N175S probably benign Het
Enox1 T A 14: 77,744,379 (GRCm39) M21K probably benign Het
Fhad1 T C 4: 141,729,838 (GRCm39) D55G probably damaging Het
Gm5157 A G 7: 20,919,318 (GRCm39) M75T possibly damaging Het
Gm6309 A G 5: 146,105,128 (GRCm39) S262P probably damaging Het
Gpnmb T C 6: 49,020,952 (GRCm39) L82P probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Itpripl2 A C 7: 118,089,194 (GRCm39) V455G probably benign Het
Kif16b A G 2: 142,549,287 (GRCm39) V1087A probably benign Het
Med12l A G 3: 59,172,647 (GRCm39) D1801G possibly damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mtmr4 T A 11: 87,495,875 (GRCm39) Y570* probably null Het
Osbpl1a G T 18: 12,921,419 (GRCm39) N128K probably damaging Het
Pcdhb5 T A 18: 37,454,155 (GRCm39) H178Q probably damaging Het
Pdlim1 A T 19: 40,218,989 (GRCm39) F214Y probably damaging Het
Qki A T 17: 10,435,316 (GRCm39) L236H probably damaging Het
Rexo2 G T 9: 48,380,171 (GRCm39) D220E probably benign Het
Rras A G 7: 44,670,715 (GRCm39) E195G possibly damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Sp1 T A 15: 102,339,352 (GRCm39) M430K possibly damaging Het
Tardbp A C 4: 148,702,117 (GRCm39) V86G probably damaging Het
Trim43c A G 9: 88,725,090 (GRCm39) Q203R possibly damaging Het
Vmn1r232 A G 17: 21,133,913 (GRCm39) L229P probably damaging Het
Other mutations in Adi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02379:Adi1 APN 12 28,729,466 (GRCm39) missense probably damaging 1.00
R1836:Adi1 UTSW 12 28,729,562 (GRCm39) missense probably benign 0.34
R4832:Adi1 UTSW 12 28,725,252 (GRCm39) start codon destroyed probably null 0.05
R5259:Adi1 UTSW 12 28,725,544 (GRCm39) intron probably benign
R5393:Adi1 UTSW 12 28,725,274 (GRCm39) missense probably benign 0.37
R6029:Adi1 UTSW 12 28,729,318 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GACAGAGCTCAACCCTAAGTAGG -3'
(R):5'- TTGTGGCTTCCATGTAAAACTCAC -3'

Sequencing Primer
(F):5'- CTCAACCCTAAGTAGGTGAGATAGC -3'
(R):5'- GAGAGGCTTTCATTTAAAAGACACTG -3'
Posted On 2016-12-20