|Institutional Source||Beutler Lab|
|Gene Name||histocompatibility 2, M region locus 3|
|Synonyms||H-2M3, Hmt, R4B2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7645 (G1)|
|Chromosomal Location||37270220-37274484 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 37270729 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 94 (I94N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035687 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038580]|
|Predicted Effect||probably damaging
AA Change: I94N
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I94N
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
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||
|Other mutations in H2-M3||
(F):5'- ACTGCGCTATTTCCACACTG -3'
(R):5'- TTGGACCTAAACTGAAAGTGAAACC -3'
(F):5'- CACTGCGGTGTCACGGC -3'
(R):5'- ACCGGTTAAAGGTTTCTGAGAGCTC -3'