Incidental Mutation 'IGL03127:H2-M9'
| ID |
410184 |
| 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 # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36950177-36953558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36951714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 254
(V254M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087165]
[ENSMUST00000087167]
|
| AlphaFold |
O19442 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087165
|
| SMART Domains |
Protein: ENSMUSP00000084409
Gene: ENSMUSG00000067201
| 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: V254M
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
AA Change: V254M
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
| Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
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 |
|
|
IGL02133:H2-M9
|
APN |
17 |
36,952,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation