Incidental Mutation 'R5259:Adi1'
ID 401315
Institutional Source Beutler Lab
Gene Symbol Adi1
Ensembl Gene ENSMUSG00000020629
Gene Name acireductone dioxygenase 1
Synonyms
MMRRC Submission 042856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R5259 (G1)
Quality Score 171
Status Validated
Chromosome 12
Chromosomal Location 28725230-28732174 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 28725544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000020957
Gene: ENSMUSG00000020629

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,325 (GRCm39) T50P probably damaging Het
Adam5 T A 8: 25,300,850 (GRCm39) L226F possibly damaging Het
Apc T C 18: 34,447,343 (GRCm39) V1379A probably benign Het
Atp13a4 G A 16: 29,275,428 (GRCm39) T352M probably damaging Het
Baat T A 4: 49,490,070 (GRCm39) N338I probably benign Het
Bdnf A G 2: 109,554,327 (GRCm39) T234A probably benign Het
Catsperd A C 17: 56,967,235 (GRCm39) T539P possibly damaging Het
Cd109 A T 9: 78,617,434 (GRCm39) T1311S probably benign Het
Ceacam18 T C 7: 43,286,536 (GRCm39) probably null Het
Cfap96 T C 8: 46,415,373 (GRCm39) E211G probably benign Het
Cfhr4 C T 1: 139,668,233 (GRCm39) C300Y probably damaging Het
Chsy3 T A 18: 59,543,318 (GRCm39) S819T probably damaging Het
Col4a4 G T 1: 82,431,614 (GRCm39) R1557S unknown Het
Ddx18 A G 1: 121,495,518 (GRCm39) probably null Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Fam13c C G 10: 70,276,893 (GRCm39) A17G probably benign Het
Fermt1 T C 2: 132,748,685 (GRCm39) Y646C probably damaging Het
Fra10ac1 A G 19: 38,188,110 (GRCm39) S229P probably benign Het
Gbp8 A T 5: 105,198,845 (GRCm39) H23Q probably benign Het
Gdf2 T C 14: 33,666,788 (GRCm39) V170A probably benign Het
Gm15723 T C 10: 114,652,722 (GRCm39) noncoding transcript Het
Gm815 G A 19: 26,863,806 (GRCm39) V16I unknown Het
Ighv1-75 T A 12: 115,797,797 (GRCm39) K42* probably null Het
Isx A G 8: 75,619,473 (GRCm39) T222A probably benign Het
Itgax G A 7: 127,747,450 (GRCm39) D1018N probably damaging Het
Kcnc4 A G 3: 107,355,401 (GRCm39) F349S probably damaging Het
Lama3 A C 18: 12,598,565 (GRCm39) S991R probably damaging Het
Larp4b C T 13: 9,208,220 (GRCm39) A398V probably damaging Het
Ltbp1 A G 17: 75,670,357 (GRCm39) N1466S probably benign Het
Metrn A T 17: 26,015,514 (GRCm39) L67Q probably damaging Het
Morc1 G A 16: 48,451,132 (GRCm39) R937Q probably benign Het
Mta3 A G 17: 84,112,003 (GRCm39) Y577C probably damaging Het
Nalcn A G 14: 123,753,063 (GRCm39) F308L possibly damaging Het
Nat8 A T 6: 85,807,873 (GRCm39) S87T probably benign Het
Oplah A T 15: 76,185,410 (GRCm39) probably null Het
Or2ak6 A G 11: 58,592,778 (GRCm39) N84D probably benign Het
Or2ak6 A C 11: 58,592,779 (GRCm39) N84T possibly damaging Het
Or7e166 A G 9: 19,624,109 (GRCm39) probably null Het
Pcdh15 A T 10: 74,232,204 (GRCm39) I668L possibly damaging Het
Pecr A G 1: 72,316,444 (GRCm39) probably null Het
Plxna4 T C 6: 32,493,956 (GRCm39) E220G possibly damaging Het
Pnma8b A G 7: 16,679,199 (GRCm39) K61R unknown Het
Prl8a6 C T 13: 27,620,179 (GRCm39) W81* probably null Het
Rab33b C T 3: 51,392,033 (GRCm39) probably benign Het
Rbm33 T A 5: 28,557,772 (GRCm39) probably null Het
Relch A G 1: 105,649,101 (GRCm39) S747G probably benign Het
Reln C T 5: 22,308,395 (GRCm39) V325M possibly damaging Het
Rheb A C 5: 25,008,743 (GRCm39) D158E probably benign Het
Rhebl1 T A 15: 98,778,464 (GRCm39) probably benign Het
Rmdn2 T A 17: 79,975,446 (GRCm39) Y312N probably damaging Het
Scamp1 T G 13: 94,368,594 (GRCm39) N58T probably benign Het
Semp2l1 A T 1: 32,584,598 (GRCm39) C437* probably null Het
Slc35a1 C T 4: 34,683,322 (GRCm39) V53M probably benign Het
Slc35f3 A T 8: 127,115,872 (GRCm39) L266F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Ticrr T A 7: 79,344,471 (GRCm39) S1445R probably benign Het
Ttc23l T C 15: 10,515,236 (GRCm39) N381D probably damaging Het
Usp17ld T A 7: 102,899,781 (GRCm39) K384* probably null Het
Vmn1r20 T A 6: 57,409,050 (GRCm39) Y125* probably null Het
Zfp738 G T 13: 67,817,805 (GRCm39) Q729K probably benign Het
Zfp770 T A 2: 114,027,674 (GRCm39) M132L probably benign 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
R5393:Adi1 UTSW 12 28,725,274 (GRCm39) missense probably benign 0.37
R5833:Adi1 UTSW 12 28,731,041 (GRCm39) missense probably benign 0.01
R6029:Adi1 UTSW 12 28,729,318 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCTATTGGAAGGTACGAGTGCAG -3'
(R):5'- ATCAAACGTTCCTCAGGCATG -3'

Sequencing Primer
(F):5'- TACGAGTGCAGGCCGGAG -3'
(R):5'- CAAGGCCAGTTGGTTTGCAC -3'
Posted On 2016-07-06