Incidental Mutation 'IGL03177:H2-M3'
ID412028
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 #IGL03177
Quality Score
Status
Chromosome17
Chromosomal Location37270220-37274484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 37270316 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 19 (V19F)
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 possibly damaging
Transcript: ENSMUST00000038580
AA Change: V19F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035687
Gene: ENSMUSG00000016206
AA Change: V19F

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging 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
IGL02994:H2-M3 APN 17 37270738 missense probably benign
IGL03135:H2-M3 APN 17 37272433 missense possibly damaging 0.90
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