Incidental Mutation 'IGL00435:H2-T23'
ID3856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T23
Ensembl Gene ENSMUSG00000067212
Gene Namehistocompatibility 2, T region locus 23
Synonyms37b, T18c(37), 37c, Qa-1, Qed-1, T23b, T18c, T23d, H-2T23, Qa1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL00435
Quality Score
Status
Chromosome17
Chromosomal Location36029773-36032855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36031781 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 155 (A155V)
Ref Sequence ENSEMBL: ENSMUSP00000099739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102678]
PDB Structure
Structure of the MHC class Ib molecule Qa-1b [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000102678
AA Change: A155V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: A155V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 21 199 1.9e-93 PFAM
IGc1 218 289 1.89e-22 SMART
transmembrane domain 304 326 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174839
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: CD4+ T cells from mice with a homozygous null mutation have enhanced responses after infection or immunization, are resistant to suppressor activity mediated by a subset of CD8+ T cells, but are more susceptible to NK cell lysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,164,528 D2575V probably damaging Het
Arhgap28 A T 17: 67,845,801 D657E probably damaging Het
Cd68 T C 11: 69,665,850 T44A probably damaging Het
Cecr2 C T 6: 120,756,717 T555M probably damaging Het
Cep170b A G 12: 112,735,194 Q169R probably damaging Het
Cs T C 10: 128,360,043 F374L probably damaging Het
Dpy19l1 T C 9: 24,481,930 E181G probably damaging Het
Efcab12 T C 6: 115,823,664 T133A probably benign Het
Esr2 G A 12: 76,133,879 R423W probably damaging Het
Eya4 T C 10: 23,159,097 Y120C probably benign Het
Fam46c A G 3: 100,473,356 V28A probably damaging Het
Fbxw8 A G 5: 118,068,137 M582T probably benign Het
Ghsr A G 3: 27,372,383 E196G possibly damaging Het
Gm10024 G A 10: 77,711,461 probably benign Het
Gm609 A T 16: 45,444,120 L25Q probably damaging Het
Gpr65 A G 12: 98,275,556 E156G probably damaging Het
Gtf3c3 T C 1: 54,427,535 Y249C possibly damaging Het
Hadha A G 5: 30,122,173 S556P probably benign Het
Hdac7 T A 15: 97,809,495 K187N probably damaging Het
Inpp5j T C 11: 3,502,255 I332V probably benign Het
Kank1 A G 19: 25,430,236 D1198G probably benign Het
Kdr A G 5: 75,968,750 L159P probably damaging Het
Me2 T C 18: 73,770,642 E585G probably benign Het
Nfu1 A T 6: 87,015,595 T64S probably damaging Het
Nsd3 A G 8: 25,676,712 D632G probably benign Het
Pcna T C 2: 132,251,932 D97G probably benign Het
Pgm1 A G 5: 64,108,269 probably benign Het
Phactr1 C A 13: 42,956,646 R2S probably damaging Het
Psmd11 T A 11: 80,470,384 I347N possibly damaging Het
Rad21l T C 2: 151,653,516 T416A probably benign Het
Ruvbl2 A T 7: 45,425,172 S181T probably benign Het
Rxrb A G 17: 34,034,075 T109A probably damaging Het
Ryr3 T A 2: 112,660,149 Y3785F probably damaging Het
Sec16a T C 2: 26,430,101 T1442A probably benign Het
Slc6a14 T A X: 21,734,124 probably benign Het
Slco2b1 G A 7: 99,660,052 Q691* probably null Het
Them5 A G 3: 94,346,189 T169A possibly damaging Het
Trav13-2 T C 14: 53,635,231 F55L possibly damaging Het
Tst A T 15: 78,405,461 S125T probably damaging Het
Ttn T C 2: 76,800,524 T14179A probably benign Het
Vps37b A G 5: 124,010,787 Y62H probably damaging Het
Other mutations in H2-T23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:H2-T23 APN 17 36032644 missense probably benign 0.29
IGL02756:H2-T23 APN 17 36031688 missense probably damaging 1.00
IGL03036:H2-T23 APN 17 36032357 missense possibly damaging 0.73
LCD18:H2-T23 UTSW 17 36031216 intron probably benign
R0539:H2-T23 UTSW 17 36032141 splice site probably benign
R0845:H2-T23 UTSW 17 36030583 missense probably benign 0.00
R1727:H2-T23 UTSW 17 36031653 missense possibly damaging 0.52
R2044:H2-T23 UTSW 17 36032191 missense probably damaging 1.00
R3121:H2-T23 UTSW 17 36030963 missense probably benign 0.13
R3122:H2-T23 UTSW 17 36030963 missense probably benign 0.13
R3943:H2-T23 UTSW 17 36030643 missense probably benign 0.01
R3944:H2-T23 UTSW 17 36030643 missense probably benign 0.01
R4492:H2-T23 UTSW 17 36032166 missense probably damaging 0.97
R4660:H2-T23 UTSW 17 36030216 missense probably damaging 0.99
R4669:H2-T23 UTSW 17 36031798 missense probably damaging 1.00
R4740:H2-T23 UTSW 17 36032124 intron probably benign
R5151:H2-T23 UTSW 17 36032338 missense probably damaging 1.00
R5196:H2-T23 UTSW 17 36032607 critical splice donor site probably null
R5237:H2-T23 UTSW 17 36030366 splice site probably null
R5307:H2-T23 UTSW 17 36032216 missense probably benign 0.00
R5336:H2-T23 UTSW 17 36031658 missense possibly damaging 0.85
R5646:H2-T23 UTSW 17 36031803 missense possibly damaging 0.49
R5800:H2-T23 UTSW 17 36031604 intron probably benign
R6013:H2-T23 UTSW 17 36030582 missense probably benign 0.00
R6081:H2-T23 UTSW 17 36031815 missense possibly damaging 0.90
R6382:H2-T23 UTSW 17 36031832 missense probably damaging 1.00
R7043:H2-T23 UTSW 17 36031911 missense probably damaging 1.00
R7134:H2-T23 UTSW 17 36031817 missense probably damaging 1.00
Posted On2012-04-20