Incidental Mutation 'IGL03200:H2-M10.6'
ID |
412941 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-M10.6
|
Ensembl Gene |
ENSMUSG00000037130 |
Gene Name |
histocompatibility 2, M region locus 10.6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL03200
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
37123067-37126458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37124908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 275
(G275E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041398]
|
AlphaFold |
Q85ZW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041398
AA Change: G275E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039908 Gene: ENSMUSG00000037130 AA Change: G275E
Domain | Start | End | E-Value | Type |
Pfam:MHC_I
|
24 |
202 |
2.2e-47 |
PFAM |
IGc1
|
221 |
292 |
9.31e-22 |
SMART |
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,928,989 (GRCm39) |
|
probably benign |
Het |
Degs1 |
A |
T |
1: 182,107,256 (GRCm39) |
M1K |
probably null |
Het |
Eif3e |
A |
T |
15: 43,115,657 (GRCm39) |
W370R |
probably damaging |
Het |
Itga8 |
C |
T |
2: 12,196,010 (GRCm39) |
V647I |
probably benign |
Het |
Kcnip2 |
T |
G |
19: 45,782,502 (GRCm39) |
K190Q |
probably damaging |
Het |
Mbd1 |
T |
G |
18: 74,409,502 (GRCm39) |
S251A |
probably benign |
Het |
Mcpt9 |
T |
A |
14: 56,264,390 (GRCm39) |
H235L |
probably benign |
Het |
Ndst1 |
A |
T |
18: 60,832,611 (GRCm39) |
I573N |
possibly damaging |
Het |
Ntan1 |
C |
T |
16: 13,652,591 (GRCm39) |
P229L |
probably damaging |
Het |
Rbl2 |
T |
C |
8: 91,823,395 (GRCm39) |
I441T |
probably benign |
Het |
Spmap2l |
T |
A |
5: 77,208,711 (GRCm39) |
V413D |
possibly damaging |
Het |
Sulf1 |
C |
T |
1: 12,856,841 (GRCm39) |
R31* |
probably null |
Het |
Taok1 |
G |
A |
11: 77,466,478 (GRCm39) |
Q124* |
probably null |
Het |
Tmem140 |
A |
G |
6: 34,849,814 (GRCm39) |
E110G |
possibly damaging |
Het |
U2surp |
G |
A |
9: 95,373,444 (GRCm39) |
R242* |
probably null |
Het |
Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
Zfp456 |
C |
T |
13: 67,514,596 (GRCm39) |
R370H |
probably benign |
Het |
|
Other mutations in H2-M10.6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01018:H2-M10.6
|
APN |
17 |
37,123,112 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01590:H2-M10.6
|
APN |
17 |
37,123,641 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03278:H2-M10.6
|
APN |
17 |
37,124,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R0018:H2-M10.6
|
UTSW |
17 |
37,124,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R0144:H2-M10.6
|
UTSW |
17 |
37,123,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R0194:H2-M10.6
|
UTSW |
17 |
37,124,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:H2-M10.6
|
UTSW |
17 |
37,124,052 (GRCm39) |
missense |
probably benign |
|
R1757:H2-M10.6
|
UTSW |
17 |
37,124,043 (GRCm39) |
missense |
probably benign |
0.00 |
R1773:H2-M10.6
|
UTSW |
17 |
37,123,076 (GRCm39) |
missense |
probably benign |
0.00 |
R2029:H2-M10.6
|
UTSW |
17 |
37,124,799 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3409:H2-M10.6
|
UTSW |
17 |
37,124,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:H2-M10.6
|
UTSW |
17 |
37,123,396 (GRCm39) |
missense |
probably benign |
0.18 |
R4373:H2-M10.6
|
UTSW |
17 |
37,123,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:H2-M10.6
|
UTSW |
17 |
37,123,425 (GRCm39) |
missense |
probably benign |
0.04 |
R5684:H2-M10.6
|
UTSW |
17 |
37,124,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:H2-M10.6
|
UTSW |
17 |
37,123,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:H2-M10.6
|
UTSW |
17 |
37,125,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R6328:H2-M10.6
|
UTSW |
17 |
37,124,836 (GRCm39) |
missense |
probably damaging |
0.96 |
R8245:H2-M10.6
|
UTSW |
17 |
37,124,155 (GRCm39) |
critical splice donor site |
probably null |
|
R9687:H2-M10.6
|
UTSW |
17 |
37,125,147 (GRCm39) |
missense |
probably benign |
0.01 |
R9705:H2-M10.6
|
UTSW |
17 |
37,123,642 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2016-08-02 |