Incidental Mutation 'IGL03352:H2-Oa'
ID 419778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Oa
Ensembl Gene ENSMUSG00000024334
Gene Name histocompatibility 2, O region alpha locus
Synonyms H-2Oa
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL03352
Quality Score
Status
Chromosome 17
Chromosomal Location 34311314-34314208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34313377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 143 (I143F)
Ref Sequence ENSEMBL: ENSMUSP00000025192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025192]
AlphaFold Q9QWV1
Predicted Effect probably damaging
Transcript: ENSMUST00000025192
AA Change: I143F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025192
Gene: ENSMUSG00000024334
AA Change: I143F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
MHC_II_alpha 30 110 1.11e-35 SMART
IGc1 128 199 5.02e-27 SMART
Pfam:C1-set_C 202 250 8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183290
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal antigen presentation via MHC class II. Mice homozygous for a knock-out allele show enhanced selection of CD4+ single positive thymocytes. Mice homozygous for a different knock-out allele show increased serum IgG1 levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,184,213 (GRCm39) S426G probably benign Het
Arap3 T C 18: 38,114,355 (GRCm39) probably benign Het
Arhgap45 T A 10: 79,866,585 (GRCm39) N1029K probably damaging Het
Arhgef10l A T 4: 140,311,242 (GRCm39) M1K probably null Het
Bloc1s6 T C 2: 122,584,638 (GRCm39) L71P probably damaging Het
Ccer1 G T 10: 97,529,439 (GRCm39) R34M unknown Het
Cd44 T C 2: 102,675,759 (GRCm39) probably benign Het
Col17a1 T C 19: 47,669,814 (GRCm39) probably null Het
Cspp1 A G 1: 10,117,662 (GRCm39) E38G possibly damaging Het
Dock10 A T 1: 80,584,013 (GRCm39) probably benign Het
Dsg3 A T 18: 20,660,689 (GRCm39) M343L probably benign Het
Eif3l G A 15: 78,961,251 (GRCm39) probably benign Het
Fcrl1 T C 3: 87,292,398 (GRCm39) L150P probably benign Het
Flg2 T G 3: 93,109,801 (GRCm39) S610A unknown Het
Grin3b C T 10: 79,809,615 (GRCm39) R374C probably damaging Het
Itgae C T 11: 73,022,556 (GRCm39) P924S probably damaging Het
Itpr2 T A 6: 146,058,602 (GRCm39) D2521V probably damaging Het
Itprid2 T A 2: 79,475,445 (GRCm39) M468K probably damaging Het
Laptm4a G A 12: 8,981,719 (GRCm39) G143D probably benign Het
Lrp6 T C 6: 134,456,726 (GRCm39) Y846C probably damaging Het
Mcm10 A T 2: 4,999,407 (GRCm39) S749T probably damaging Het
Nemf T C 12: 69,378,679 (GRCm39) N548D probably damaging Het
Nlrp4e T A 7: 23,020,251 (GRCm39) L246Q probably damaging Het
Nsun6 A T 2: 15,001,157 (GRCm39) C466* probably null Het
Olfm2 T C 9: 20,580,019 (GRCm39) D252G probably damaging Het
Or10j5 A C 1: 172,784,850 (GRCm39) M163L probably benign Het
Or14j9 T A 17: 37,874,681 (GRCm39) I174F probably damaging Het
Or2h1 G A 17: 37,404,311 (GRCm39) L152F probably benign Het
Or9i14 T C 19: 13,792,292 (GRCm39) I221V probably damaging Het
Pcdhb14 C T 18: 37,582,057 (GRCm39) R388C possibly damaging Het
Piwil1 C T 5: 128,828,136 (GRCm39) T712I probably benign Het
Piwil4 G T 9: 14,637,183 (GRCm39) T377K probably damaging Het
Prg3 T C 2: 84,823,370 (GRCm39) F182L probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Retsat T C 6: 72,575,666 (GRCm39) V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 (GRCm38) noncoding transcript Het
Sh3glb2 A G 2: 30,235,363 (GRCm39) V370A probably damaging Het
Skint4 G T 4: 112,022,883 (GRCm39) W459C possibly damaging Het
Slco1a1 T A 6: 141,857,611 (GRCm39) R573S probably benign Het
Smgc T C 15: 91,744,876 (GRCm39) S694P probably damaging Het
Spaca6 A G 17: 18,058,401 (GRCm39) Y7C probably damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Tepsin C T 11: 119,982,703 (GRCm39) V456I probably benign Het
Tex261 C T 6: 83,748,249 (GRCm39) R171Q possibly damaging Het
Tmem184a A T 5: 139,798,755 (GRCm39) F65I probably damaging Het
Tpm3 G A 3: 89,995,052 (GRCm39) probably null Het
Tubgcp2 T A 7: 139,580,940 (GRCm39) H671L probably benign Het
Unc13b T G 4: 43,237,110 (GRCm39) D3393E possibly damaging Het
Vcan T A 13: 89,853,125 (GRCm39) M612L probably benign Het
Vmn1r180 C A 7: 23,652,077 (GRCm39) S80* probably null Het
Vmn1r64 C T 7: 5,887,070 (GRCm39) V158I probably benign Het
Vps13d C T 4: 144,894,072 (GRCm39) V496I possibly damaging Het
Wee2 T G 6: 40,429,589 (GRCm39) probably null Het
Zfp804b T C 5: 6,820,039 (GRCm39) N972S probably benign Het
Other mutations in H2-Oa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:H2-Oa APN 17 34,313,537 (GRCm39) missense probably damaging 1.00
IGL01929:H2-Oa APN 17 34,313,056 (GRCm39) critical splice donor site probably null
IGL03022:H2-Oa APN 17 34,313,023 (GRCm39) missense probably damaging 1.00
R1582:H2-Oa UTSW 17 34,313,695 (GRCm39) missense probably damaging 0.99
R1930:H2-Oa UTSW 17 34,312,873 (GRCm39) missense possibly damaging 0.81
R5081:H2-Oa UTSW 17 34,313,344 (GRCm39) missense probably damaging 1.00
R5097:H2-Oa UTSW 17 34,312,809 (GRCm39) missense probably damaging 0.98
R6191:H2-Oa UTSW 17 34,312,842 (GRCm39) missense probably damaging 1.00
R6228:H2-Oa UTSW 17 34,312,851 (GRCm39) missense probably damaging 0.98
R6275:H2-Oa UTSW 17 34,313,540 (GRCm39) missense probably benign 0.32
R9133:H2-Oa UTSW 17 34,313,505 (GRCm39) missense probably damaging 1.00
R9355:H2-Oa UTSW 17 34,313,723 (GRCm39) missense possibly damaging 0.70
Posted On 2016-08-02