Incidental Mutation 'IGL01871:H2-Ob'
ID |
178721 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-Ob
|
Ensembl Gene |
ENSMUSG00000041538 |
Gene Name |
histocompatibility 2, O region beta locus |
Synonyms |
A-beta2, H-2Ob, vic1, H2-Ab2, A-beta-2, H2-IAb2, Ob, H2-Ab, H-2I |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL01871
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34457879-34464882 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34461519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 86
(W86L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095342]
[ENSMUST00000167280]
[ENSMUST00000173764]
|
AlphaFold |
A0A494BB12 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095342
AA Change: W157L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092985 Gene: ENSMUSG00000041538 AA Change: W157L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
MHC_II_beta
|
39 |
113 |
8.17e-34 |
SMART |
IGc1
|
138 |
209 |
2.24e-24 |
SMART |
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167280
AA Change: W131L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129657 Gene: ENSMUSG00000041538 AA Change: W131L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
MHC_II_beta
|
39 |
113 |
8.17e-34 |
SMART |
IGc1
|
120 |
183 |
4.55e-16 |
SMART |
transmembrane domain
|
199 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173681
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173764
AA Change: W86L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133906 Gene: ENSMUSG00000041538 AA Change: W86L
Domain | Start | End | E-Value | Type |
Pfam:MHC_II_beta
|
1 |
42 |
8e-12 |
PFAM |
IGc1
|
67 |
138 |
2.24e-24 |
SMART |
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,620,513 (GRCm39) |
|
probably null |
Het |
Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,258 (GRCm39) |
T372A |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
Het |
|
Other mutations in H2-Ob |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03247:H2-Ob
|
APN |
17 |
34,462,466 (GRCm39) |
missense |
probably benign |
|
Deciduous
|
UTSW |
17 |
34,462,860 (GRCm39) |
critical splice acceptor site |
probably null |
|
K3955:H2-Ob
|
UTSW |
17 |
34,460,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0466:H2-Ob
|
UTSW |
17 |
34,461,633 (GRCm39) |
missense |
probably damaging |
0.99 |
R0791:H2-Ob
|
UTSW |
17 |
34,461,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R0792:H2-Ob
|
UTSW |
17 |
34,461,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:H2-Ob
|
UTSW |
17 |
34,463,100 (GRCm39) |
utr 3 prime |
probably benign |
|
R2145:H2-Ob
|
UTSW |
17 |
34,461,554 (GRCm39) |
missense |
probably benign |
0.00 |
R4677:H2-Ob
|
UTSW |
17 |
34,461,618 (GRCm39) |
missense |
probably benign |
0.01 |
R4741:H2-Ob
|
UTSW |
17 |
34,461,545 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5011:H2-Ob
|
UTSW |
17 |
34,460,253 (GRCm39) |
critical splice donor site |
probably null |
|
R5084:H2-Ob
|
UTSW |
17 |
34,460,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:H2-Ob
|
UTSW |
17 |
34,462,490 (GRCm39) |
missense |
probably benign |
0.20 |
R5497:H2-Ob
|
UTSW |
17 |
34,460,144 (GRCm39) |
missense |
probably benign |
0.42 |
R6034:H2-Ob
|
UTSW |
17 |
34,460,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:H2-Ob
|
UTSW |
17 |
34,460,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R6272:H2-Ob
|
UTSW |
17 |
34,461,618 (GRCm39) |
missense |
probably benign |
0.01 |
R6433:H2-Ob
|
UTSW |
17 |
34,462,860 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6794:H2-Ob
|
UTSW |
17 |
34,460,162 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7220:H2-Ob
|
UTSW |
17 |
34,460,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R8996:H2-Ob
|
UTSW |
17 |
34,462,531 (GRCm39) |
missense |
probably damaging |
0.97 |
R9484:H2-Ob
|
UTSW |
17 |
34,459,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |