Incidental Mutation 'IGL02756:H2-T23'
ID 306469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T23
Ensembl Gene ENSMUSG00000067212
Gene Name histocompatibility 2, T region locus 23
Synonyms Qed-1, H-2T23, 37c, Qa-1, T23b, T23d, Qa1, T18c, T18c(37), 37b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02756
Quality Score
Status
Chromosome 17
Chromosomal Location 36340869-36343593 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36342580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 186 (E186G)
Ref Sequence ENSEMBL: ENSMUSP00000099739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102678]
AlphaFold P06339
PDB Structure Structure of the MHC class Ib molecule Qa-1b [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000102678
AA Change: E186G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099739
Gene: ENSMUSG00000067212
AA Change: E186G

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,970 (GRCm39) D54V probably damaging Het
Adamts18 C A 8: 114,440,976 (GRCm39) probably benign Het
Angptl3 T A 4: 98,919,399 (GRCm39) L53Q probably damaging Het
Apc A G 18: 34,447,588 (GRCm39) T1461A probably damaging Het
Arl11 T A 14: 61,548,535 (GRCm39) V115D probably damaging Het
Cabp4 C A 19: 4,188,560 (GRCm39) V173L possibly damaging Het
Casq1 T A 1: 172,042,672 (GRCm39) D230V probably damaging Het
Cdc42bpa A G 1: 179,936,824 (GRCm39) I821V possibly damaging Het
Cfap65 T C 1: 74,944,239 (GRCm39) Y1494C probably benign Het
Chd1 T A 17: 15,951,069 (GRCm39) S215T probably damaging Het
Csf2rb2 T C 15: 78,169,049 (GRCm39) E593G possibly damaging Het
Cstf1 A G 2: 172,217,795 (GRCm39) D136G probably damaging Het
Ddx19b T C 8: 111,737,910 (GRCm39) probably benign Het
Dido1 A T 2: 180,303,716 (GRCm39) L1396Q probably benign Het
Ermn A G 2: 57,937,824 (GRCm39) I263T probably damaging Het
F12 T A 13: 55,568,880 (GRCm39) Q294L possibly damaging Het
Far2 A T 6: 148,058,889 (GRCm39) I192F probably damaging Het
Fshb T A 2: 106,889,218 (GRCm39) I29F probably damaging Het
Gcgr T A 11: 120,427,811 (GRCm39) Y251N probably benign Het
Gpr158 A G 2: 21,831,890 (GRCm39) I997V possibly damaging Het
Gprc5d A G 6: 135,093,613 (GRCm39) V98A probably damaging Het
Khdrbs3 C T 15: 68,896,685 (GRCm39) T115I probably benign Het
Kifap3 C T 1: 163,689,597 (GRCm39) T527M probably damaging Het
Mfsd2a C T 4: 122,842,332 (GRCm39) A512T probably benign Het
Mmp9 A G 2: 164,791,235 (GRCm39) D135G probably benign Het
Mylk T C 16: 34,784,016 (GRCm39) V1394A probably benign Het
Nek9 A C 12: 85,358,110 (GRCm39) probably null Het
Or51q1c T C 7: 103,652,866 (GRCm39) I128T probably damaging Het
Or8k16 T C 2: 85,520,402 (GRCm39) S210P probably damaging Het
P2rx2 T A 5: 110,490,276 (GRCm39) probably benign Het
P4htm A G 9: 108,456,977 (GRCm39) L410P probably damaging Het
Pik3c2a A T 7: 115,963,748 (GRCm39) W921R probably benign Het
Pnisr T C 4: 21,862,175 (GRCm39) F288L probably benign Het
Ppp4r3a C T 12: 101,024,582 (GRCm39) probably null Het
Prss34 T C 17: 25,518,251 (GRCm39) S144P probably damaging Het
Qrsl1 T C 10: 43,758,110 (GRCm39) T328A probably benign Het
Rab33b A T 3: 51,391,945 (GRCm39) T65S probably damaging Het
Rdh8 A G 9: 20,736,637 (GRCm39) S235G possibly damaging Het
Rrp12 T C 19: 41,884,500 (GRCm39) K6R probably benign Het
Sec24a T C 11: 51,587,560 (GRCm39) D1025G probably benign Het
Sgo2a T G 1: 58,055,509 (GRCm39) N564K probably damaging Het
Slc43a3 A T 2: 84,774,612 (GRCm39) M130L probably benign Het
Soat1 T C 1: 156,274,145 (GRCm39) I89V probably benign Het
St3gal5 A G 6: 72,126,157 (GRCm39) D307G probably null Het
Stxbp3-ps C T 19: 9,535,193 (GRCm39) noncoding transcript Het
Tacr2 A G 10: 62,097,469 (GRCm39) probably benign Het
Tg C T 15: 66,606,435 (GRCm39) T193I probably benign Het
Tnik A G 3: 28,596,179 (GRCm39) T191A probably damaging Het
Trim27 T C 13: 21,374,256 (GRCm39) probably benign Het
Usf2 A T 7: 30,646,417 (GRCm39) C134* probably null Het
Usp14 A G 18: 10,001,769 (GRCm39) probably null Het
Usp47 T C 7: 111,692,270 (GRCm39) S911P possibly damaging Het
Vmn1r73 T A 7: 11,490,574 (GRCm39) S131T possibly damaging Het
Vmn2r80 T C 10: 79,030,145 (GRCm39) I657T probably damaging Het
Zfp935 A T 13: 62,602,701 (GRCm39) C166* probably null Het
Other mutations in H2-T23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:H2-T23 APN 17 36,342,673 (GRCm39) missense probably damaging 1.00
IGL01685:H2-T23 APN 17 36,343,536 (GRCm39) missense probably benign 0.29
IGL03036:H2-T23 APN 17 36,343,249 (GRCm39) missense possibly damaging 0.73
LCD18:H2-T23 UTSW 17 36,342,108 (GRCm39) intron probably benign
R0539:H2-T23 UTSW 17 36,343,033 (GRCm39) splice site probably benign
R0845:H2-T23 UTSW 17 36,341,475 (GRCm39) missense probably benign 0.00
R1727:H2-T23 UTSW 17 36,342,545 (GRCm39) missense possibly damaging 0.52
R2044:H2-T23 UTSW 17 36,343,083 (GRCm39) missense probably damaging 1.00
R3121:H2-T23 UTSW 17 36,341,855 (GRCm39) missense probably benign 0.13
R3122:H2-T23 UTSW 17 36,341,855 (GRCm39) missense probably benign 0.13
R3943:H2-T23 UTSW 17 36,341,535 (GRCm39) missense probably benign 0.01
R3944:H2-T23 UTSW 17 36,341,535 (GRCm39) missense probably benign 0.01
R4492:H2-T23 UTSW 17 36,343,058 (GRCm39) missense probably damaging 0.97
R4660:H2-T23 UTSW 17 36,341,108 (GRCm39) missense probably damaging 0.99
R4669:H2-T23 UTSW 17 36,342,690 (GRCm39) missense probably damaging 1.00
R4740:H2-T23 UTSW 17 36,343,016 (GRCm39) intron probably benign
R5151:H2-T23 UTSW 17 36,343,230 (GRCm39) missense probably damaging 1.00
R5196:H2-T23 UTSW 17 36,343,499 (GRCm39) critical splice donor site probably null
R5237:H2-T23 UTSW 17 36,341,258 (GRCm39) splice site probably null
R5307:H2-T23 UTSW 17 36,343,108 (GRCm39) missense probably benign 0.00
R5336:H2-T23 UTSW 17 36,342,550 (GRCm39) missense possibly damaging 0.85
R5646:H2-T23 UTSW 17 36,342,695 (GRCm39) missense possibly damaging 0.49
R5800:H2-T23 UTSW 17 36,342,496 (GRCm39) intron probably benign
R6013:H2-T23 UTSW 17 36,341,474 (GRCm39) missense probably benign 0.00
R6081:H2-T23 UTSW 17 36,342,707 (GRCm39) missense possibly damaging 0.90
R6382:H2-T23 UTSW 17 36,342,724 (GRCm39) missense probably damaging 1.00
R7043:H2-T23 UTSW 17 36,342,803 (GRCm39) missense probably damaging 1.00
R7134:H2-T23 UTSW 17 36,342,709 (GRCm39) missense probably damaging 1.00
R9383:H2-T23 UTSW 17 36,343,227 (GRCm39) missense possibly damaging 0.64
R9550:H2-T23 UTSW 17 36,342,712 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16