Incidental Mutation 'IGL02689:H2-M3'
| ID |
303658 |
| 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 # |
IGL02689
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37581111-37585375 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37581432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 31
(Y31*)
|
| 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 |
probably null
Transcript: ENSMUST00000038580
AA Change: Y31*
|
| SMART Domains |
Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: Y31*
| 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 |
|---|
| Acer2 |
G |
T |
4: 86,835,692 (GRCm39) |
A235S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,084,388 (GRCm39) |
I479V |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,168 (GRCm39) |
M28K |
probably benign |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,993 (GRCm39) |
S87G |
probably benign |
Het |
| Atraid |
T |
C |
5: 31,209,826 (GRCm39) |
L46P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,772 (GRCm39) |
Y509* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,739,128 (GRCm39) |
L1257Q |
probably damaging |
Het |
| Csn1s2b |
A |
G |
5: 87,957,780 (GRCm39) |
I5V |
probably benign |
Het |
| Dhps |
T |
C |
8: 85,800,379 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,962 (GRCm39) |
S717P |
probably damaging |
Het |
| Dppa5a |
G |
T |
9: 78,275,113 (GRCm39) |
S63Y |
probably damaging |
Het |
| Eif3l |
A |
T |
15: 78,970,719 (GRCm39) |
D331V |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,412,253 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,253,662 (GRCm39) |
Q18K |
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,251,918 (GRCm39) |
K56R |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,815,031 (GRCm39) |
|
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,782,687 (GRCm39) |
A675S |
possibly damaging |
Het |
| Lipo5 |
G |
A |
19: 33,445,186 (GRCm39) |
H128Y |
unknown |
Het |
| Or2bd2 |
T |
C |
7: 6,443,574 (GRCm39) |
L225P |
possibly damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,171 (GRCm39) |
I89V |
probably benign |
Het |
| Pdk4 |
C |
T |
6: 5,487,408 (GRCm39) |
V281I |
probably benign |
Het |
| Pkn3 |
G |
A |
2: 29,970,858 (GRCm39) |
G202D |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,462,149 (GRCm39) |
N260S |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,487,594 (GRCm39) |
F1623L |
probably benign |
Het |
| Slfn8 |
A |
G |
11: 82,907,934 (GRCm39) |
F203S |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,596 (GRCm39) |
L210S |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,065,704 (GRCm39) |
|
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,475,270 (GRCm39) |
F226S |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,289,839 (GRCm39) |
|
probably benign |
Het |
| Tmx3 |
A |
G |
18: 90,555,240 (GRCm39) |
N319S |
possibly damaging |
Het |
| Trmt1 |
G |
T |
8: 85,426,385 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H2-M3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01630:H2-M3
|
APN |
17 |
37,581,548 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01891:H2-M3
|
APN |
17 |
37,583,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
2015-04-16 |
Incidental Mutation