Incidental Mutation 'IGL03135:H2-M3'
ID 410460
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) question?
Stock # IGL03135
Quality Score
Status
Chromosome 17
Chromosomal Location 37581111-37585375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37583324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 262 (D262N)
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: D262N

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: D262N

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: ENSMUST00000173568
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Ccr8 A T 9: 119,923,689 (GRCm39) D268V possibly damaging Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Fsd1 C A 17: 56,297,416 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
Hdgfl3 G A 7: 81,543,587 (GRCm39) T188M probably damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Naga C A 15: 82,214,942 (GRCm39) V339F probably damaging Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Pcdhb19 A T 18: 37,631,588 (GRCm39) H461L probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Ywhab A G 2: 163,857,195 (GRCm39) I157V probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T probably benign Het
Other mutations in H2-M3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02