Incidental Mutation 'R0863:H2-Ab1'
ID 82225
Institutional Source Beutler Lab
Gene Symbol H2-Ab1
Ensembl Gene ENSMUSG00000073421
Gene Name histocompatibility 2, class II antigen A, beta 1
Synonyms H-2Ab, Ia2, H2-Ab, IAb, Ia-2, Abeta, I-Abeta, A beta, Rmcs1, I-A
MMRRC Submission 039037-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0863 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34482201-34488392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34486328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 129 (I129T)
Ref Sequence ENSEMBL: ENSMUSP00000041008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040828]
AlphaFold no structure available at present
PDB Structure CRYSTAL STRUCTURE OF CLASS II MHC MOLECULE IAb BOUND TO EALPHA3K PEPTIDE [X-RAY DIFFRACTION]
Crystal structure of murine class II MHC I-Ab in complex with a human CLIP peptide [X-RAY DIFFRACTION]
Crystal structure of mouse MHC class II I-Ab/3K peptide complexed with mouse TCR B3K506 [X-RAY DIFFRACTION]
Crystal structure of mouse MHC class II I-Ab/3K peptide complexed with mouse TCR YAe62 [X-RAY DIFFRACTION]
Crystal structure of mouse MHC class II I-Ab/3K peptide complexed with mouse TCR 2W20 [X-RAY DIFFRACTION]
Crystal Structure of 809.B5 TCR complexed with MHC Class II I-Ab/3k peptide [X-RAY DIFFRACTION]
J809.B5 TCR bound to IAb/3K [X-RAY DIFFRACTION]
J809.B5 Y31A TCR bound to IAb3K [X-RAY DIFFRACTION]
14.C6 TCR complexed with MHC class II I-Ab/3K peptide [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000040828
AA Change: I129T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041008
Gene: ENSMUSG00000073421
AA Change: I129T

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
MHC_II_beta 40 114 1.53e-47 SMART
IGc1 140 211 8.47e-34 SMART
transmembrane domain 228 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174875
Meta Mutation Damage Score 0.4898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 94% (59/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit depletion of mature CD4+ T cells, deficiency in cell-mediated immune responses, and increased susceptibility to viral infections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,327,232 (GRCm39) noncoding transcript Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca14 A T 7: 119,815,453 (GRCm39) T234S probably benign Het
Acap1 C A 11: 69,777,882 (GRCm39) V119L probably damaging Het
Actr2 C T 11: 20,030,760 (GRCm39) V163I probably benign Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Arnt2 T A 7: 83,914,792 (GRCm39) K524M probably damaging Het
Brca1 T C 11: 101,415,596 (GRCm39) Y846C probably benign Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Cep350 T A 1: 155,737,981 (GRCm39) I2621L probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fank1 A G 7: 133,482,352 (GRCm39) R73G possibly damaging Het
Fes A T 7: 80,030,634 (GRCm39) W552R probably damaging Het
Fsd2 A G 7: 81,191,913 (GRCm39) V488A possibly damaging Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gm9493 A T 19: 23,597,173 (GRCm39) Q23L probably benign Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lonp1 T C 17: 56,925,331 (GRCm39) K487R probably damaging Het
Ltbp1 A G 17: 75,559,381 (GRCm39) Y290C probably damaging Het
Ms4a10 C T 19: 10,945,957 (GRCm39) G58D probably damaging Het
Muc5b A G 7: 141,421,454 (GRCm39) S4315G probably benign Het
Nlrp1b T A 11: 71,072,173 (GRCm39) T557S probably benign Het
Nlrp3 A G 11: 59,456,676 (GRCm39) D946G probably benign Het
Obscn T C 11: 58,886,241 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or10ab5 A G 7: 108,244,865 (GRCm39) I306T probably benign Het
Or5p50 T C 7: 107,422,581 (GRCm39) S32G probably benign Het
Or7e173 A T 9: 19,938,509 (GRCm39) S242T probably damaging Het
Pask A T 1: 93,242,061 (GRCm39) F1219I probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plec G A 15: 76,058,280 (GRCm39) Q3751* probably null Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sema4a C T 3: 88,355,456 (GRCm39) probably benign Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Spag1 G T 15: 36,192,193 (GRCm39) K217N probably damaging Het
Ssh1 C T 5: 114,104,792 (GRCm39) R9H probably damaging Het
St3gal4 C A 9: 34,964,744 (GRCm39) V155F probably damaging Het
Stxbp5 C T 10: 9,684,784 (GRCm39) E539K possibly damaging Het
Tbc1d7 G T 13: 43,308,161 (GRCm39) probably benign Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Ttc21b T C 2: 66,073,117 (GRCm39) I190V probably benign Het
Ttn T C 2: 76,537,391 (GRCm39) T34846A probably benign Het
Ube4a A G 9: 44,861,114 (GRCm39) V232A possibly damaging Het
Uri1 A T 7: 37,669,100 (GRCm39) D122E probably damaging Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zan T A 5: 137,456,901 (GRCm39) E1278D unknown Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in H2-Ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:H2-Ab1 APN 17 34,486,549 (GRCm39) missense probably damaging 1.00
IGL01941:H2-Ab1 APN 17 34,486,408 (GRCm39) nonsense probably null
IGL02826:H2-Ab1 APN 17 34,483,885 (GRCm39) missense probably damaging 0.98
R0479:H2-Ab1 UTSW 17 34,483,942 (GRCm39) missense possibly damaging 0.68
R0815:H2-Ab1 UTSW 17 34,486,328 (GRCm39) missense probably damaging 0.99
R1796:H2-Ab1 UTSW 17 34,486,346 (GRCm39) missense probably damaging 0.99
R2875:H2-Ab1 UTSW 17 34,482,286 (GRCm39) start codon destroyed probably benign 0.21
R4042:H2-Ab1 UTSW 17 34,483,834 (GRCm39) missense probably benign
R4687:H2-Ab1 UTSW 17 34,483,783 (GRCm39) missense probably damaging 0.99
R4761:H2-Ab1 UTSW 17 34,486,474 (GRCm39) missense probably damaging 0.98
R4787:H2-Ab1 UTSW 17 34,486,441 (GRCm39) missense possibly damaging 0.92
R5111:H2-Ab1 UTSW 17 34,486,456 (GRCm39) missense probably damaging 0.96
R5155:H2-Ab1 UTSW 17 34,486,358 (GRCm39) missense possibly damaging 0.89
R5194:H2-Ab1 UTSW 17 34,488,352 (GRCm39) utr 3 prime probably benign
R6869:H2-Ab1 UTSW 17 34,486,537 (GRCm39) missense probably damaging 1.00
R7037:H2-Ab1 UTSW 17 34,486,963 (GRCm39) missense probably damaging 0.99
R7054:H2-Ab1 UTSW 17 34,482,316 (GRCm39) missense probably benign 0.41
R7250:H2-Ab1 UTSW 17 34,486,481 (GRCm39) missense probably damaging 1.00
R8295:H2-Ab1 UTSW 17 34,483,816 (GRCm39) missense probably damaging 0.99
R9205:H2-Ab1 UTSW 17 34,483,981 (GRCm39) missense probably damaging 1.00
R9253:H2-Ab1 UTSW 17 34,486,378 (GRCm39) missense probably damaging 1.00
R9321:H2-Ab1 UTSW 17 34,486,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATTGTATGGGAACAGGGCCAC -3'
(R):5'- ATCTTGCTCCAGGCAGACTCAGAC -3'

Sequencing Primer
(F):5'- GCCACAATGTTATTTTCCCAGTGAG -3'
(R):5'- AGTGATCTCCAGAACTGCTG -3'
Posted On 2013-11-08