Incidental Mutation 'IGL03247:H2-Ob'
| ID |
414443 |
| 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: 0.062)
|
| Stock # |
IGL03247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34457879-34464882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34462466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 152
(K152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095342]
[ENSMUST00000167280]
[ENSMUST00000173764]
|
| AlphaFold |
A0A494BB12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095342
AA Change: K223R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: K223R
| 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 benign
Transcript: ENSMUST00000167280
AA Change: K197R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: K197R
| 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 benign
Transcript: ENSMUST00000173764
AA Change: K152R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: K152R
| 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 |
|---|
| Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
| Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
| Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
| Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
| Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
| Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
| Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
| Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
| Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
| Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
probably benign |
Het |
|
| Other mutations in H2-Ob |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01871:H2-Ob
|
APN |
17 |
34,461,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation