Incidental Mutation 'K3955:H2-Ob'
| ID |
262087 |
| Institutional Source |
Beutler Lab
|
| 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 # |
K3955 (G3)
of strain
706
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34457879-34464882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34460158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 19
(R19C)
|
| 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: R90C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: R90C
| 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: R90C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: R90C
| 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: R19C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: R19C
| 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 |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (42/42) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
| Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
| Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
| Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
| Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
| Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
| Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
| Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
| Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
| Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
| Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
| Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
| Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
| Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
| Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
| Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
| Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
| Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
| Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
| Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
| Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation