Incidental Mutation 'IGL03022:H2-Oa'
| ID |
408016 |
| 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)
|
| Stock # |
IGL03022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34311314-34314208 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34313023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 100
(V100A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025192]
|
| AlphaFold |
Q9QWV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025192
AA Change: V100A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025192
Gene: ENSMUSG00000024334
AA Change: V100A
| Domain | Start | End | E-Value | Type |
|---|
|
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
| Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
| Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
| Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
| Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
| Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
| Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
| Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
| Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
| Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H2-Oa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation