Incidental Mutation 'R0815:H2-Ab1'
ID 78596
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 038995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0815 (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: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging 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
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign 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
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging 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
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging 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
R0863: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 2013-10-16