Incidental Mutation 'R6433:H2-Ob'
ID |
518665 |
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 |
044571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R6433 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34457879-34464882 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 34462860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095342]
[ENSMUST00000095342]
[ENSMUST00000167280]
[ENSMUST00000167280]
[ENSMUST00000173764]
|
AlphaFold |
A0A494BB12 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095342
|
SMART Domains |
Protein: ENSMUSP00000092985 Gene: ENSMUSG00000041538
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 null
Transcript: ENSMUST00000095342
|
SMART Domains |
Protein: ENSMUSP00000092985 Gene: ENSMUSG00000041538
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 null
Transcript: ENSMUST00000167280
|
SMART Domains |
Protein: ENSMUSP00000129657 Gene: ENSMUSG00000041538
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 |
probably null
Transcript: ENSMUST00000167280
|
SMART Domains |
Protein: ENSMUSP00000129657 Gene: ENSMUSG00000041538
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: S197C
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133906 Gene: ENSMUSG00000041538 AA Change: S197C
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 |
0.9582 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (56/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,392,395 (GRCm39) |
T544A |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
Flcn |
T |
C |
11: 59,691,908 (GRCm39) |
D247G |
probably damaging |
Het |
Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
Pex5 |
A |
T |
6: 124,390,572 (GRCm39) |
M91K |
possibly damaging |
Het |
Phlpp2 |
G |
T |
8: 110,661,317 (GRCm39) |
A810S |
probably benign |
Het |
Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
Sh3tc1 |
T |
C |
5: 35,863,941 (GRCm39) |
R749G |
probably damaging |
Het |
Skint4 |
A |
G |
4: 112,003,707 (GRCm39) |
K380R |
probably benign |
Het |
Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
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 |
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 |
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 |
PCR Primer
(F):5'- GAAGAGAACCTTCCCACCTG -3'
(R):5'- TCTTGAGGCCTGCAAGAAGAG -3'
Sequencing Primer
(F):5'- CCTTTACTGTAAAGATCTGAGGGAG -3'
(R):5'- TGTCAGGAGGCCTCACAC -3'
|
Posted On |
2018-05-24 |