Incidental Mutation 'IGL00832:Ido1'
ID11400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ido1
Ensembl Gene ENSMUSG00000031551
Gene Nameindoleamine 2,3-dioxygenase 1
SynonymsIndo, Ido
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00832
Quality Score
Status
Chromosome8
Chromosomal Location24584136-24597009 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 24584559 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 265 (T265I)
Ref Sequence ENSEMBL: ENSMUSP00000106295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033956] [ENSMUST00000110667]
Predicted Effect probably benign
Transcript: ENSMUST00000033956
AA Change: T356I

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033956
Gene: ENSMUSG00000031551
AA Change: T356I

DomainStartEndE-ValueType
Pfam:IDO 15 402 4.7e-124 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110667
AA Change: T265I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106295
Gene: ENSMUSG00000031551
AA Change: T265I

DomainStartEndE-ValueType
Pfam:IDO 1 313 6e-111 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes indoleamine 2,3-dioxygenase (IDO) - a heme enzyme that catalyzes the first and rate-limiting step in tryptophan catabolism to N-formyl-kynurenine. This enzyme acts on multiple tryptophan substrates including D-tryptophan, L-tryptophan, 5-hydroxy-tryptophan, tryptamine, and serotonin. This enzyme is thought to play a role in a variety of pathophysiological processes such as antimicrobial and antitumor defense, neuropathology, immunoregulation, and antioxidant activity. Through its expression in dendritic cells, monocytes, and macrophages this enzyme modulates T-cell behavior by its peri-cellular catabolization of the essential amino acid tryptophan.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele fail to induce IFN-alpha production by dendritic cells after B7 ligation, and show epididymal inflammation, teratospermia, and elevated caudal epididymal sperm counts along with higher protein and cytokine levels and reduced leukocyte count and proteasome activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,455,349 Y407C probably damaging Het
Amtn T G 5: 88,385,049 H174Q possibly damaging Het
Cdon T A 9: 35,478,116 I839N probably damaging Het
Ces2g A G 8: 104,967,839 probably benign Het
Colq G T 14: 31,528,346 C367* probably null Het
Dopey2 T C 16: 93,763,401 V745A probably benign Het
E2f8 C T 7: 48,868,203 G657D probably damaging Het
Gpcpd1 G A 2: 132,546,850 T334M probably damaging Het
Gria2 T C 3: 80,707,251 D494G probably damaging Het
Gtf3c1 T C 7: 125,654,460 probably benign Het
Gtf3c2 G A 5: 31,173,005 probably benign Het
Hnf4g G A 3: 3,641,276 C77Y probably damaging Het
Ifih1 A G 2: 62,645,470 probably benign Het
Itga6 A G 2: 71,838,262 probably null Het
Kctd10 C A 5: 114,368,936 probably null Het
Ltk A T 2: 119,755,605 probably benign Het
Luc7l3 T C 11: 94,303,942 D84G probably benign Het
Mb21d1 A T 9: 78,434,317 C393S probably damaging Het
Mc3r A T 2: 172,249,028 I57F possibly damaging Het
Mmp1b T A 9: 7,387,023 Q63L possibly damaging Het
Ncr1 C A 7: 4,341,288 T225N possibly damaging Het
Nf2 T C 11: 4,791,123 K364E probably benign Het
Ppl A T 16: 5,088,975 L1152H probably damaging Het
Primpol A G 8: 46,581,597 V432A probably damaging Het
Rbl2 A G 8: 91,085,445 D214G probably damaging Het
Rxfp2 A T 5: 150,066,428 M425L probably benign Het
Slc5a3 T C 16: 92,077,631 M192T probably damaging Het
Tbx18 T A 9: 87,705,661 S468C probably damaging Het
Tex10 T C 4: 48,468,864 T104A probably benign Het
Unc13b T G 4: 43,258,921 V4153G probably damaging Het
Vmn1r188 A G 13: 22,088,181 T102A probably damaging Het
Other mutations in Ido1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Ido1 APN 8 24593143 missense probably benign 0.02
IGL02960:Ido1 APN 8 24593329 splice site probably benign
R0180:Ido1 UTSW 8 24593140 missense possibly damaging 0.87
R0652:Ido1 UTSW 8 24585244 missense probably damaging 1.00
R1102:Ido1 UTSW 8 24593140 missense probably damaging 1.00
R1474:Ido1 UTSW 8 24584446 missense probably damaging 0.97
R1925:Ido1 UTSW 8 24585290 missense possibly damaging 0.82
R2509:Ido1 UTSW 8 24584485 nonsense probably null
R4913:Ido1 UTSW 8 24584517 missense probably benign
R4962:Ido1 UTSW 8 24584549 missense probably benign 0.00
R5313:Ido1 UTSW 8 24587778 missense probably damaging 1.00
R5654:Ido1 UTSW 8 24587803 missense probably damaging 1.00
R5660:Ido1 UTSW 8 24591542 missense probably damaging 1.00
R6144:Ido1 UTSW 8 24585290 missense possibly damaging 0.82
R7436:Ido1 UTSW 8 24586916 missense probably benign 0.00
R7615:Ido1 UTSW 8 24593188 missense probably damaging 1.00
R7873:Ido1 UTSW 8 24584742 missense probably damaging 0.98
R7956:Ido1 UTSW 8 24584742 missense probably damaging 0.98
Posted On2012-12-06