Incidental Mutation 'R4304:H2-M3'
| ID |
322548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-M3
|
| Ensembl Gene |
ENSMUSG00000016206 |
| Gene Name |
histocompatibility 2, M region locus 3 |
| Synonyms |
H-2M3, Hmt, R4B2 |
| MMRRC Submission |
040865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4304 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37581111-37585375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37583295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 252
(M252T)
|
| 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 benign
Transcript: ENSMUST00000038580
AA Change: M252T
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: M252T
| 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: ENSMUST00000173568
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,391,545 (GRCm39) |
M323K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,006,489 (GRCm39) |
S636P |
probably benign |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap47 |
C |
G |
X: 78,541,635 (GRCm39) |
K469N |
probably damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,825,294 (GRCm39) |
V400D |
possibly damaging |
Het |
| Fam3d |
G |
A |
14: 8,349,324 (GRCm38) |
P209S |
probably damaging |
Het |
| Fig4 |
T |
A |
10: 41,132,423 (GRCm39) |
D461V |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gcfc2 |
G |
A |
6: 81,919,988 (GRCm39) |
R397Q |
probably damaging |
Het |
| Gm20939 |
A |
C |
17: 95,184,709 (GRCm39) |
Q452H |
probably benign |
Het |
| Gm5592 |
A |
T |
7: 40,935,686 (GRCm39) |
M63L |
probably benign |
Het |
| Lsm14a |
C |
A |
7: 34,056,858 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Or4a68 |
A |
T |
2: 89,270,542 (GRCm39) |
V27D |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,227,736 (GRCm39) |
Q261* |
probably null |
Het |
| Rptn |
C |
A |
3: 93,304,238 (GRCm39) |
H524N |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,530,058 (GRCm39) |
M240K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,738,741 (GRCm39) |
I3503V |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,172,941 (GRCm39) |
K625E |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,560,634 (GRCm39) |
V663A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpp1 |
T |
A |
7: 105,399,516 (GRCm39) |
D84V |
possibly damaging |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Wfdc15b |
A |
C |
2: 164,057,388 (GRCm39) |
M1R |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGCTCCTATGATCTCCAATG -3'
(R):5'- AGGGTGAGAGTCATGATGCC -3'
Sequencing Primer
(F):5'- TCTCCAATGACTCTCCAAAAATAATG -3'
(R):5'- AGAGTCATGATGCCCAGTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation