Incidental Mutation 'R1796:H2-Ab1'
ID 202321
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 039826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1796 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34482201-34488392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34486346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 135 (E135G)
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: E135G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041008
Gene: ENSMUSG00000073421
AA Change: E135G

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,662,156 (GRCm39) S30F probably benign Het
Abtb1 T C 6: 88,813,601 (GRCm39) D379G possibly damaging Het
Adgre1 A G 17: 57,748,350 (GRCm39) I517V probably benign Het
Ajm1 C T 2: 25,468,000 (GRCm39) G637D probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt4 G A 2: 151,780,909 (GRCm39) V386M probably damaging Het
Asic1 A G 15: 99,594,535 (GRCm39) H360R probably null Het
Asxl1 G A 2: 153,243,526 (GRCm39) A1359T probably benign Het
Atp8a2 C T 14: 60,258,207 (GRCm39) probably null Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
C1qtnf2 T A 11: 43,382,114 (GRCm39) F279I probably damaging Het
Car8 A T 4: 8,221,671 (GRCm39) L100* probably null Het
Cd52 T C 4: 133,822,295 (GRCm39) M1V probably null Het
Celf5 T C 10: 81,303,053 (GRCm39) I163V possibly damaging Het
Cep250 A T 2: 155,834,107 (GRCm39) T2010S possibly damaging Het
Cfap65 C T 1: 74,958,107 (GRCm39) V934M probably damaging Het
Colec11 A T 12: 28,644,858 (GRCm39) I212N probably damaging Het
Cpa3 C T 3: 20,277,391 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,445,553 (GRCm39) H495N probably damaging Het
Cyb5a T C 18: 84,869,686 (GRCm39) V28A probably benign Het
Ddo A T 10: 40,523,625 (GRCm39) Q205L probably benign Het
Dnah1 T A 14: 30,983,050 (GRCm39) N4195I probably benign Het
E2f1 A T 2: 154,402,849 (GRCm39) V306E probably benign Het
Ece1 C T 4: 137,685,312 (GRCm39) R601W probably damaging Het
Eef1d A C 15: 75,773,024 (GRCm39) F25C probably damaging Het
Ehd3 A T 17: 74,137,354 (GRCm39) I508F probably damaging Het
Eml6 T A 11: 29,831,975 (GRCm39) I232F probably benign Het
Enc1 T A 13: 97,382,991 (GRCm39) D500E probably benign Het
Enc1 C A 13: 97,382,993 (GRCm39) T501K possibly damaging Het
Fam83f C T 15: 80,574,283 (GRCm39) R213W possibly damaging Het
Fbxo31 A T 8: 122,287,177 (GRCm39) L158* probably null Het
Fcgbpl1 C T 7: 27,854,797 (GRCm39) P1808S probably damaging Het
Foxi3 C A 6: 70,937,794 (GRCm39) T342N possibly damaging Het
Gpr179 T A 11: 97,227,382 (GRCm39) D1591V possibly damaging Het
Gpsm2 A G 3: 108,609,166 (GRCm39) V151A probably damaging Het
Grk2 T G 19: 4,337,968 (GRCm39) I513L probably benign Het
Herc1 A T 9: 66,296,138 (GRCm39) K578* probably null Het
Hycc1 T G 5: 24,191,149 (GRCm39) T173P probably damaging Het
Itpr2 T C 6: 146,198,171 (GRCm39) N1533S probably benign Het
Kif3c A G 12: 3,417,299 (GRCm39) N440S probably benign Het
Klhdc2 T C 12: 69,347,071 (GRCm39) probably null Het
Kmo G T 1: 175,465,461 (GRCm39) V72L probably benign Het
Krt71 A G 15: 101,651,315 (GRCm39) I56T possibly damaging Het
Krt72 T C 15: 101,689,987 (GRCm39) probably null Het
Krt78 T A 15: 101,859,300 (GRCm39) Q299L probably damaging Het
Loxhd1 C T 18: 77,493,603 (GRCm39) R1521C probably damaging Het
Loxhd1 G A 18: 77,513,335 (GRCm39) E1774K possibly damaging Het
Ly6g6f T C 17: 35,302,478 (GRCm39) S20G probably benign Het
Mecr T A 4: 131,592,382 (GRCm39) M282K probably damaging Het
Mfsd14a G T 3: 116,428,596 (GRCm39) A353D probably damaging Het
Mroh9 A T 1: 162,873,279 (GRCm39) N564K probably damaging Het
Mrs2 T A 13: 25,181,111 (GRCm39) T237S possibly damaging Het
Mycbpap A G 11: 94,398,377 (GRCm39) L534S probably damaging Het
Myh1 T C 11: 67,115,183 (GRCm39) I1906T probably benign Het
Myh4 T A 11: 67,151,150 (GRCm39) V1935D probably benign Het
Myo18a T C 11: 77,720,170 (GRCm39) I684T possibly damaging Het
Myo7b C T 18: 32,119,728 (GRCm39) R788H possibly damaging Het
Nbea A T 3: 55,551,129 (GRCm39) D2678E possibly damaging Het
Ndufs3 A C 2: 90,729,050 (GRCm39) Y145* probably null Het
Nrros A G 16: 31,962,329 (GRCm39) F563L probably damaging Het
Ntn4 T C 10: 93,581,633 (GRCm39) V602A probably damaging Het
Obscn C A 11: 58,920,163 (GRCm39) R6736L possibly damaging Het
Odr4 T C 1: 150,251,305 (GRCm39) N283S probably benign Het
Or13c7d T A 4: 43,770,495 (GRCm39) D172V possibly damaging Het
Or2ag16 T C 7: 106,351,756 (GRCm39) I280V probably benign Het
Or7g22 C A 9: 19,049,213 (GRCm39) T308K probably benign Het
Or8d1 T A 9: 38,766,820 (GRCm39) V154D probably benign Het
Or8g54 C T 9: 39,707,301 (GRCm39) P210L possibly damaging Het
Or8g55 A G 9: 39,785,267 (GRCm39) E232G probably benign Het
Pik3cd A G 4: 149,738,576 (GRCm39) F751L possibly damaging Het
Plekhh2 A G 17: 84,906,561 (GRCm39) probably null Het
Postn A G 3: 54,281,177 (GRCm39) H434R probably damaging Het
Prss39 A G 1: 34,539,114 (GRCm39) D118G possibly damaging Het
Ralyl G T 3: 14,208,493 (GRCm39) G211V possibly damaging Het
Rbak T A 5: 143,159,202 (GRCm39) E617V probably damaging Het
Rbms3 A T 9: 116,548,401 (GRCm39) W80R probably damaging Het
Retnlg A T 16: 48,694,610 (GRCm39) Y86F probably benign Het
Rtel1 T A 2: 180,993,896 (GRCm39) S643T probably benign Het
Semp2l2a A T 8: 13,886,816 (GRCm39) L425* probably null Het
Serpina11 A T 12: 103,950,954 (GRCm39) F256I probably damaging Het
Setd2 A T 9: 110,446,884 (GRCm39) probably null Het
Setd2 A T 9: 110,379,413 (GRCm39) Y1076F probably benign Het
Sgsm1 T C 5: 113,421,483 (GRCm39) T248A possibly damaging Het
Slc6a21 T C 7: 44,930,179 (GRCm39) Y193H probably damaging Het
Slfn9 T C 11: 82,872,781 (GRCm39) K652E probably benign Het
Stt3b A T 9: 115,077,675 (GRCm39) Y692* probably null Het
Sval3 A G 6: 41,945,096 (GRCm39) Q8R probably benign Het
Synm T A 7: 67,383,748 (GRCm39) I1305F possibly damaging Het
Tdrd1 T C 19: 56,826,215 (GRCm39) F169L probably damaging Het
Tecta T A 9: 42,295,493 (GRCm39) D334V probably damaging Het
Tle2 G A 10: 81,425,331 (GRCm39) probably null Het
Tmem243 A G 5: 9,166,489 (GRCm39) I30V probably benign Het
Treml2 T C 17: 48,616,530 (GRCm39) *330R probably null Het
Trpm6 A G 19: 18,804,931 (GRCm39) D961G possibly damaging Het
Ubr4 T C 4: 139,155,907 (GRCm39) V2244A probably benign Het
Unc79 G T 12: 103,109,005 (GRCm39) V2148F probably damaging Het
Ush2a A C 1: 188,643,024 (GRCm39) T4129P probably benign Het
Vgll2 G A 10: 51,901,324 (GRCm39) V85I probably damaging Het
Vmn1r16 T C 6: 57,300,256 (GRCm39) Y122C probably benign Het
Vmn1r22 A T 6: 57,877,134 (GRCm39) I91N probably damaging Het
Vmn2r70 A T 7: 85,213,011 (GRCm39) Y465* probably null Het
Wdr64 A T 1: 175,544,897 (GRCm39) E110V probably damaging Het
Wfdc6a A T 2: 164,422,231 (GRCm39) C123S probably damaging Het
Xrcc1 A G 7: 24,247,252 (GRCm39) Y30C probably damaging Het
Zdhhc7 T C 8: 120,812,157 (GRCm39) K155R probably benign Het
Zfp560 A G 9: 20,263,226 (GRCm39) F50S possibly damaging Het
Zfp616 C T 11: 73,976,671 (GRCm39) T980I probably damaging Het
Zfp808 C T 13: 62,319,670 (GRCm39) P300S probably damaging Het
Zfp979 G A 4: 147,697,740 (GRCm39) T323I probably 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
R0863:H2-Ab1 UTSW 17 34,486,328 (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'- ACAGGGCCACAATGTTATTTTC -3'
(R):5'- TCCACGTGACAGGTGTAGAC -3'

Sequencing Primer
(F):5'- GGCCACAATGTTATTTTCCCAGTGAG -3'
(R):5'- GTGTAGACCTCTCCCCGC -3'
Posted On 2014-06-23