Incidental Mutation 'IGL01987:Ido1'
ID181945
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 #IGL01987
Quality Score
Status
Chromosome8
Chromosomal Location24584136-24597009 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24593143 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 89 (Y89H)
Ref Sequence ENSEMBL: ENSMUSP00000033956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033956] [ENSMUST00000110667]
Predicted Effect probably benign
Transcript: ENSMUST00000033956
AA Change: Y89H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000033956
Gene: ENSMUSG00000031551
AA Change: Y89H

DomainStartEndE-ValueType
Pfam:IDO 15 402 4.7e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110667
SMART Domains Protein: ENSMUSP00000106295
Gene: ENSMUSG00000031551

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Ido1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Ido1 APN 8 24584559 missense possibly damaging 0.93
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 On2014-05-07