Incidental Mutation 'R6794:H2-Ob'
| ID |
531682 |
| 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 |
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34457879-34464882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34460162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 20
(L20Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095342]
[ENSMUST00000167280]
[ENSMUST00000173764]
|
| AlphaFold |
A0A494BB12 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095342
AA Change: L91Q
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092985
Gene: ENSMUSG00000041538
AA Change: L91Q
| 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 |
possibly damaging
Transcript: ENSMUST00000167280
AA Change: L91Q
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129657
Gene: ENSMUSG00000041538
AA Change: L91Q
| 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 |
possibly damaging
Transcript: ENSMUST00000173764
AA Change: L20Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133906
Gene: ENSMUSG00000041538
AA Change: L20Q
| 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 |
|
| Meta Mutation Damage Score |
0.2029 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GCTATCTGACTTAGTGTGCCAGG -3'
(R):5'- TAGACAGACAGATAGATGATTGCTG -3'
Sequencing Primer
(F):5'- AGGTGCAGCTGGTTCCTAATCC -3'
(R):5'- AGGTTCTCACAGAGAACCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation