Incidental Mutation 'R1328:H2-M3'
| ID |
157292 |
| 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 |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37581111-37585375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37581925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 127
(V127A)
|
| 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: V127A
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: V127A
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTACTGCCAAACCAGAGTAGCC -3'
(R):5'- CGCTGAAGAATCTCCTTGCCATTCC -3'
Sequencing Primer
(F):5'- ACCAGAGTAGCCCTGGGTG -3'
(R):5'- TGCCATTCCGCAGGAATC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation