Incidental Mutation 'IGL02994:H2-M3'
ID407067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M3
Ensembl Gene ENSMUSG00000016206
Gene Namehistocompatibility 2, M region locus 3
SynonymsH-2M3, Hmt, R4B2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02994
Quality Score
Status
Chromosome17
Chromosomal Location37270220-37274484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37270738 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 97 (S97N)
Ref Sequence ENSEMBL: ENSMUSP00000035687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038580]
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: S97N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: S97N

DomainStartEndE-ValueType
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acpp T A 9: 104,309,403 probably benign Het
Ahnak2 A G 12: 112,786,207 V137A probably damaging Het
Alk G T 17: 71,949,820 F681L probably benign Het
Ankrd35 T C 3: 96,682,991 probably benign Het
Aqp3 A T 4: 41,093,614 C267S probably benign Het
Arl13b T A 16: 62,812,003 I76F probably damaging Het
Cdc42bpa G T 1: 179,999,437 R85L probably damaging Het
Ctgf T A 10: 24,596,865 N224K probably damaging Het
Dock4 T G 12: 40,779,160 I1015R probably damaging Het
Dst A G 1: 34,229,252 probably benign Het
Egfr T C 11: 16,911,811 Y1197H probably damaging Het
Endod1 A G 9: 14,356,887 V434A possibly damaging Het
Exosc9 A G 3: 36,553,138 probably benign Het
Fgg G T 3: 83,008,474 R74L probably benign Het
Fmo2 A T 1: 162,880,620 D315E probably damaging Het
H2afy T C 13: 56,104,299 probably benign Het
Ighv14-2 T A 12: 113,994,591 T77S probably benign Het
Klhl9 A T 4: 88,721,197 L269* probably null Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Mkln1 T C 6: 31,490,443 S31P probably damaging Het
Nacad A G 11: 6,599,528 L1221P possibly damaging Het
Nbr1 A T 11: 101,556,227 N13I probably damaging Het
Ndfip1 T C 18: 38,452,416 I161T probably damaging Het
Nsg1 A G 5: 38,155,602 probably benign Het
Rsbn1l G T 5: 20,908,234 T430K probably damaging Het
Serpina6 A G 12: 103,653,951 S180P probably benign Het
Slc4a5 T C 6: 83,272,124 L570P probably damaging Het
Tank A G 2: 61,650,292 probably benign Het
Tpd52 A G 3: 8,947,530 F76L probably benign Het
Ubox5 A C 2: 130,600,317 L150R probably benign Het
Zfp710 T C 7: 80,081,833 S253P probably benign Het
Other mutations in H2-M3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:H2-M3 APN 17 37270657 missense possibly damaging 0.89
IGL01891:H2-M3 APN 17 37272717 missense probably benign 0.23
IGL02689:H2-M3 APN 17 37270541 nonsense probably null
IGL02755:H2-M3 APN 17 37271022 missense possibly damaging 0.81
IGL03135:H2-M3 APN 17 37272433 missense possibly damaging 0.90
IGL03177:H2-M3 APN 17 37270316 missense possibly damaging 0.86
R1328:H2-M3 UTSW 17 37271034 missense possibly damaging 0.71
R1632:H2-M3 UTSW 17 37271163 missense probably benign 0.01
R1919:H2-M3 UTSW 17 37271189 missense possibly damaging 0.67
R3981:H2-M3 UTSW 17 37271130 missense probably damaging 0.97
R4304:H2-M3 UTSW 17 37272404 missense probably benign 0.07
R4620:H2-M3 UTSW 17 37272419 missense probably damaging 0.97
R5765:H2-M3 UTSW 17 37272443 missense probably damaging 0.97
R7262:H2-M3 UTSW 17 37271193 missense probably damaging 1.00
R7437:H2-M3 UTSW 17 37272678 missense probably benign 0.23
R7585:H2-M3 UTSW 17 37270708 missense probably damaging 1.00
R7645:H2-M3 UTSW 17 37270729 missense probably damaging 0.99
Posted On2016-08-02