Incidental Mutation 'IGL02133:H2-M9'
| ID |
281059 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-M9
|
| Ensembl Gene |
ENSMUSG00000067201 |
| Gene Name |
histocompatibility 2, M region locus 9 |
| Synonyms |
M9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36950177-36953558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36952629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 139
(E139G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087165]
[ENSMUST00000087167]
|
| AlphaFold |
O19442 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087165
AA Change: E139G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201
AA Change: E139G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
2.4e-45 |
PFAM |
|
transmembrane domain
|
216 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087167
AA Change: E139G
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: E139G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
25 |
203 |
5.3e-44 |
PFAM |
|
IGc1
|
222 |
293 |
5.73e-22 |
SMART |
|
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
G |
T |
11: 52,294,337 (GRCm39) |
A193S |
probably damaging |
Het |
| Adam4 |
A |
G |
12: 81,466,803 (GRCm39) |
V606A |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,481,074 (GRCm39) |
I821V |
probably benign |
Het |
| Bmi1 |
A |
T |
2: 18,688,488 (GRCm39) |
R160W |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,470,424 (GRCm39) |
Q165L |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,906,349 (GRCm39) |
R1062C |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,899,487 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,648,937 (GRCm39) |
T940I |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,721,338 (GRCm39) |
M1535R |
possibly damaging |
Het |
| Dhx38 |
C |
A |
8: 110,284,873 (GRCm39) |
E487* |
probably null |
Het |
| Fam186b |
A |
G |
15: 99,171,584 (GRCm39) |
S888P |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,153,249 (GRCm39) |
G1235D |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,792,946 (GRCm39) |
W262* |
probably null |
Het |
| Gtdc1 |
A |
T |
2: 44,465,455 (GRCm39) |
M305K |
probably damaging |
Het |
| Haus1 |
A |
T |
18: 77,854,611 (GRCm39) |
L53Q |
probably damaging |
Het |
| Hgfac |
A |
G |
5: 35,203,931 (GRCm39) |
Y483C |
probably damaging |
Het |
| Hipk2 |
C |
T |
6: 38,796,069 (GRCm39) |
V67I |
probably benign |
Het |
| Kbtbd8 |
T |
C |
6: 95,098,713 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,500,683 (GRCm39) |
T683A |
probably benign |
Het |
| Ldhb |
A |
T |
6: 142,438,226 (GRCm39) |
M277K |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,620,010 (GRCm39) |
L33P |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,832,618 (GRCm39) |
F571L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,102,816 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
A |
G |
17: 90,950,671 (GRCm39) |
S503P |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,243,790 (GRCm39) |
V308A |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,342,922 (GRCm39) |
F292L |
probably damaging |
Het |
| Stk3 |
A |
G |
15: 35,099,662 (GRCm39) |
F88S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,604,330 (GRCm39) |
E683V |
probably benign |
Het |
| Tprkb |
T |
C |
6: 85,904,893 (GRCm39) |
V123A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,175,540 (GRCm39) |
Y1213H |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,313,868 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,603,007 (GRCm39) |
Y140C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,409,760 (GRCm39) |
S28P |
possibly damaging |
Het |
|
| Other mutations in H2-M9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01808:H2-M9
|
APN |
17 |
36,952,711 (GRCm39) |
splice site |
probably null |
|
|
IGL02323:H2-M9
|
APN |
17 |
36,951,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:H2-M9
|
APN |
17 |
36,953,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03127:H2-M9
|
APN |
17 |
36,951,714 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0025:H2-M9
|
UTSW |
17 |
36,952,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:H2-M9
|
UTSW |
17 |
36,952,419 (GRCm39) |
splice site |
probably benign |
|
|
R0926:H2-M9
|
UTSW |
17 |
36,952,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1171:H2-M9
|
UTSW |
17 |
36,952,545 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1264:H2-M9
|
UTSW |
17 |
36,953,484 (GRCm39) |
missense |
probably benign |
|
|
R1995:H2-M9
|
UTSW |
17 |
36,952,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:H2-M9
|
UTSW |
17 |
36,952,716 (GRCm39) |
splice site |
probably null |
|
|
R4737:H2-M9
|
UTSW |
17 |
36,951,631 (GRCm39) |
nonsense |
probably null |
|
|
R4808:H2-M9
|
UTSW |
17 |
36,951,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5176:H2-M9
|
UTSW |
17 |
36,952,523 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6756:H2-M9
|
UTSW |
17 |
36,953,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:H2-M9
|
UTSW |
17 |
36,953,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7216:H2-M9
|
UTSW |
17 |
36,951,594 (GRCm39) |
missense |
probably benign |
|
|
R7464:H2-M9
|
UTSW |
17 |
36,953,303 (GRCm39) |
splice site |
probably null |
|
|
R8079:H2-M9
|
UTSW |
17 |
36,953,025 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8688:H2-M9
|
UTSW |
17 |
36,953,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9174:H2-M9
|
UTSW |
17 |
36,953,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:H2-M9
|
UTSW |
17 |
36,952,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation