Incidental Mutation 'IGL01808:H2-M9'
| ID |
155747 |
| 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 # |
IGL01808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36950177-36953558 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 36952711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087165]
[ENSMUST00000087167]
|
| AlphaFold |
O19442 |
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000087167
|
| SMART Domains |
Protein: ENSMUSP00000084411
Gene: ENSMUSG00000067201
| 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 |
|---|
| Ager |
A |
T |
17: 34,818,431 (GRCm39) |
Q266L |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,034 (GRCm39) |
|
probably benign |
Het |
| Ebf2 |
C |
T |
14: 67,651,932 (GRCm39) |
A488V |
probably benign |
Het |
| Gm5885 |
A |
T |
6: 133,508,181 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,140,490 (GRCm39) |
S220P |
probably damaging |
Het |
| Gpr171 |
G |
A |
3: 59,005,572 (GRCm39) |
P68S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,246 (GRCm39) |
I63T |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,370 (GRCm39) |
V27A |
probably benign |
Het |
| Kcnh6 |
G |
T |
11: 105,914,753 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,853,650 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
A |
11: 97,563,310 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,447,404 (GRCm39) |
I352T |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,714,212 (GRCm39) |
D509G |
probably benign |
Het |
| Ncan |
C |
T |
8: 70,560,090 (GRCm39) |
|
probably null |
Het |
| Or51aa2 |
T |
A |
7: 103,187,781 (GRCm39) |
Y220F |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,067 (GRCm39) |
V459A |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 140,840,879 (GRCm39) |
P1274Q |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,645,205 (GRCm39) |
L1125P |
probably damaging |
Het |
| Synpo |
T |
C |
18: 60,735,280 (GRCm39) |
I650V |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,552,519 (GRCm39) |
R86H |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,473,414 (GRCm39) |
V501A |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,717 (GRCm39) |
I166T |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,650 (GRCm39) |
C933R |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,615,184 (GRCm39) |
F342Y |
probably damaging |
Het |
|
| Other mutations in H2-M9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation