Incidental Mutation 'IGL01630:H2-M3'
| ID |
92913 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-M3
|
| Ensembl Gene |
ENSMUSG00000016206 |
| Gene Name |
histocompatibility 2, M region locus 3 |
| Synonyms |
H-2M3, Hmt, R4B2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01630
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37581111-37585375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37581548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 70
(E70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038580]
|
| AlphaFold |
Q31093 |
| PDB Structure |
MODEL OF MHC CLASS I H2-M3 WITH NONAPEPTIDE FROM RAT ND1 REFINED AT 2.3 ANGSTROMS RESOLUTION [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038580
AA Change: E70G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
25 |
203 |
6.6e-76 |
PFAM |
|
IGc1
|
222 |
293 |
4.91e-21 |
SMART |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122476
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: At least three alleles are known for this locus: allele a, found in C57BL/6, C3H-Pgk1a, NZO and NMRI, and allele c, found in M. spretus determine distinct antigen specificities. Allele b, found in M.m. castaneus results in absence of antigen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
| Ak8 |
T |
A |
2: 28,602,291 (GRCm39) |
M75K |
probably benign |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
| Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
| Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
| Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
| Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
| Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
| Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
| Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
| Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
| Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
| Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
Het |
|
| Other mutations in H2-M3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01891:H2-M3
|
APN |
17 |
37,583,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02689:H2-M3
|
APN |
17 |
37,581,432 (GRCm39) |
nonsense |
probably null |
|
|
IGL02755:H2-M3
|
APN |
17 |
37,581,913 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02994:H2-M3
|
APN |
17 |
37,581,629 (GRCm39) |
missense |
probably benign |
|
|
IGL03135:H2-M3
|
APN |
17 |
37,583,324 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03177:H2-M3
|
APN |
17 |
37,581,207 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1328:H2-M3
|
UTSW |
17 |
37,581,925 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1632:H2-M3
|
UTSW |
17 |
37,582,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1919:H2-M3
|
UTSW |
17 |
37,582,080 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3981:H2-M3
|
UTSW |
17 |
37,582,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4304:H2-M3
|
UTSW |
17 |
37,583,295 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4620:H2-M3
|
UTSW |
17 |
37,583,310 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5765:H2-M3
|
UTSW |
17 |
37,583,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7262:H2-M3
|
UTSW |
17 |
37,582,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:H2-M3
|
UTSW |
17 |
37,583,569 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7585:H2-M3
|
UTSW |
17 |
37,581,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:H2-M3
|
UTSW |
17 |
37,581,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9181:H2-M3
|
UTSW |
17 |
37,583,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:H2-M3
|
UTSW |
17 |
37,581,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9608:H2-M3
|
UTSW |
17 |
37,581,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation