Incidental Mutation 'IGL00965:H2-Eb2'
| ID |
29330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-Eb2
|
| Ensembl Gene |
ENSMUSG00000067341 |
| Gene Name |
histocompatibility 2, class II antigen E beta2 |
| Synonyms |
H-2Eb2, Ia5, A130038H09Rik, Ia-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL00965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34544639-34560386 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 34544771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050325]
|
| AlphaFold |
Q3UUV9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050325
|
| SMART Domains |
Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
MHC_II_beta
|
42 |
115 |
8.29e-35 |
SMART |
|
IGc1
|
140 |
211 |
1.24e-26 |
SMART |
|
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
C |
T |
2: 164,646,735 (GRCm39) |
M1I |
probably null |
Het |
| Adam33 |
T |
C |
2: 130,896,183 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,332 (GRCm39) |
T1236I |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,387,107 (GRCm39) |
V832A |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,536,319 (GRCm39) |
Y91* |
probably null |
Het |
| Atp9a |
C |
A |
2: 168,482,600 (GRCm39) |
V845L |
probably benign |
Het |
| Cfap100 |
C |
T |
6: 90,392,787 (GRCm39) |
E108K |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,655,860 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
C |
8: 120,893,429 (GRCm39) |
Q254R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,071,821 (GRCm39) |
I498V |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,110,789 (GRCm39) |
L1008* |
probably null |
Het |
| Gm42688 |
C |
T |
6: 83,080,373 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,233,108 (GRCm39) |
V219A |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,388,196 (GRCm39) |
P447S |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,269 (GRCm39) |
I162N |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,561 (GRCm39) |
T107A |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,846,378 (GRCm39) |
N24I |
probably benign |
Het |
| Mgat3 |
C |
A |
15: 80,096,634 (GRCm39) |
A487D |
probably damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,947 (GRCm39) |
V124M |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,390,172 (GRCm39) |
I92F |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,746 (GRCm39) |
D199G |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,455 (GRCm39) |
L30Q |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,456,235 (GRCm39) |
Y75H |
probably damaging |
Het |
| Rgl2 |
G |
T |
17: 34,154,910 (GRCm39) |
C638F |
probably benign |
Het |
| Rhpn1 |
C |
A |
15: 75,583,735 (GRCm39) |
R407S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,613 (GRCm39) |
S1222P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,516,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn2r13 |
A |
C |
5: 109,303,964 (GRCm39) |
F822L |
probably damaging |
Het |
|
| Other mutations in H2-Eb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:H2-Eb2
|
APN |
17 |
34,553,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01380:H2-Eb2
|
APN |
17 |
34,554,783 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02057:H2-Eb2
|
APN |
17 |
34,554,741 (GRCm39) |
splice site |
probably benign |
|
|
IGL02190:H2-Eb2
|
APN |
17 |
34,553,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:H2-Eb2
|
APN |
17 |
34,544,661 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0469:H2-Eb2
|
UTSW |
17 |
34,553,218 (GRCm39) |
nonsense |
probably null |
|
|
R0510:H2-Eb2
|
UTSW |
17 |
34,553,218 (GRCm39) |
nonsense |
probably null |
|
|
R1169:H2-Eb2
|
UTSW |
17 |
34,552,331 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1334:H2-Eb2
|
UTSW |
17 |
34,553,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1598:H2-Eb2
|
UTSW |
17 |
34,553,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:H2-Eb2
|
UTSW |
17 |
34,553,278 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2103:H2-Eb2
|
UTSW |
17 |
34,553,278 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4191:H2-Eb2
|
UTSW |
17 |
34,563,529 (GRCm39) |
unclassified |
probably benign |
|
|
R4194:H2-Eb2
|
UTSW |
17 |
34,552,300 (GRCm39) |
missense |
probably benign |
|
|
R4461:H2-Eb2
|
UTSW |
17 |
34,552,497 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4774:H2-Eb2
|
UTSW |
17 |
34,553,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4882:H2-Eb2
|
UTSW |
17 |
34,553,230 (GRCm39) |
missense |
probably benign |
|
|
R5663:H2-Eb2
|
UTSW |
17 |
34,552,382 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6913:H2-Eb2
|
UTSW |
17 |
34,552,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7139:H2-Eb2
|
UTSW |
17 |
34,553,395 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7457:H2-Eb2
|
UTSW |
17 |
34,553,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9173:H2-Eb2
|
UTSW |
17 |
34,552,491 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:H2-Eb2
|
UTSW |
17 |
34,553,283 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2013-04-17 |
Incidental Mutation