Incidental Mutation 'IGL00980:H2-Oa'
ID 29358
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: 0.175) question?
Stock # IGL00980
Quality Score
Status
Chromosome 17
Chromosomal Location 34311314-34314208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34313537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 196 (L196R)
Ref Sequence ENSEMBL: ENSMUSP00000025192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025192]
AlphaFold Q9QWV1
Predicted Effect probably damaging
Transcript: ENSMUST00000025192
AA Change: L196R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025192
Gene: ENSMUSG00000024334
AA Change: L196R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,293,977 (GRCm39) Y283* probably null Het
Bend3 C A 10: 43,387,562 (GRCm39) Q652K probably damaging Het
Bltp1 C T 3: 37,054,190 (GRCm39) T3103I probably damaging Het
Ccdc136 G A 6: 29,420,257 (GRCm39) S992N probably damaging Het
Cct6a T C 5: 129,868,856 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,398 (GRCm39) I203F probably benign Het
Cd8b1 C A 6: 71,309,463 (GRCm39) C182* probably null Het
Cmtr1 T A 17: 29,910,258 (GRCm39) D454E probably benign Het
Cyp2b13 T A 7: 25,781,152 (GRCm39) F188Y probably benign Het
Dppa2 T C 16: 48,132,049 (GRCm39) S49P possibly damaging Het
Fhl5 G T 4: 25,207,181 (GRCm39) L196I possibly damaging Het
Gimap4 T A 6: 48,667,872 (GRCm39) V81D probably damaging Het
Gm4884 T G 7: 40,693,150 (GRCm39) M373R probably damaging Het
Gnrhr C T 5: 86,345,162 (GRCm39) probably null Het
Icosl T C 10: 77,907,805 (GRCm39) S122P probably damaging Het
Itpr3 A G 17: 27,329,930 (GRCm39) T1575A probably benign Het
Krt80 T C 15: 101,247,879 (GRCm39) K373E possibly damaging Het
Lamp1 G A 8: 13,221,195 (GRCm39) probably benign Het
Npvf T C 6: 50,627,865 (GRCm39) K185E probably damaging Het
Nuf2 A G 1: 169,338,003 (GRCm39) M258T probably damaging Het
Or6b2 T C 1: 92,407,402 (GRCm39) probably null Het
Or8b36 G A 9: 37,937,107 (GRCm39) V2I probably benign Het
Smurf2 A C 11: 106,726,921 (GRCm39) I469S probably damaging Het
Soat1 T A 1: 156,268,911 (GRCm39) H180L probably benign Het
Spink5 G T 18: 44,140,777 (GRCm39) D659Y probably damaging Het
Sprtn T C 8: 125,627,037 (GRCm39) M139T probably damaging Het
Tas2r140 T C 6: 40,468,352 (GRCm39) S61P possibly damaging Het
Tec G A 5: 72,944,141 (GRCm39) L89F probably damaging Het
Trav21-dv12 A T 14: 54,114,107 (GRCm39) M76L probably benign Het
Ttc7 A C 17: 87,628,874 (GRCm39) T271P possibly damaging Het
Tyk2 G A 9: 21,031,884 (GRCm39) T397I probably benign Het
Ugt1a6b T A 1: 88,035,327 (GRCm39) Y222N possibly damaging Het
Vmn2r2 A T 3: 64,024,601 (GRCm39) M660K probably benign Het
Vmn2r52 T A 7: 9,905,017 (GRCm39) Y274F probably damaging Het
Wscd1 A C 11: 71,679,768 (GRCm39) N547T possibly damaging Het
Zfp335 C A 2: 164,744,594 (GRCm39) E394* probably null Het
Other mutations in H2-Oa
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03352:H2-Oa APN 17 34,313,377 (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 2013-04-17