Incidental Mutation 'R4787:H2-Ab1'
ID 367204
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 041975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4787 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34482201-34488392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34486441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 167 (T167S)
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 possibly damaging
Transcript: ENSMUST00000040828
AA Change: T167S

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041008
Gene: ENSMUSG00000073421
AA Change: T167S

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 0.1083 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (72/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,008 (GRCm39) Y138* probably null Het
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Amy2b T C 3: 113,058,634 (GRCm39) noncoding transcript Het
Anxa1 T A 19: 20,351,118 (GRCm39) D334V probably damaging Het
Atoh8 T C 6: 72,200,761 (GRCm39) T310A possibly damaging Het
BC002059 G A 17: 17,193,810 (GRCm39) noncoding transcript Het
Ccdc40 A G 11: 119,144,447 (GRCm39) D924G possibly damaging Het
Ccm2l A T 2: 152,921,422 (GRCm39) M433L probably benign Het
Cd209e T C 8: 3,901,181 (GRCm39) S158G probably null Het
Cdkn2a C T 4: 89,194,955 (GRCm39) R153H unknown Het
Cfap69 A G 5: 5,696,934 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,280 (GRCm39) T923A unknown Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Ddrgk1 A G 2: 130,500,248 (GRCm39) F216S probably damaging Het
Dysf T A 6: 84,180,310 (GRCm39) C1995* probably null Het
Epb41l5 G A 1: 119,523,725 (GRCm39) P467S probably benign Het
Extl1 G A 4: 134,091,978 (GRCm39) L292F probably damaging Het
Fsd1 A G 17: 56,303,257 (GRCm39) N409D possibly damaging Het
Gm15455 A T 1: 33,876,803 (GRCm39) noncoding transcript Het
Gm8894 A G 14: 55,658,172 (GRCm39) noncoding transcript Het
Gtf3c2 C T 5: 31,314,921 (GRCm39) S942N probably benign Het
Gvin-ps3 T C 7: 105,681,041 (GRCm39) noncoding transcript Het
Ighv8-9 C T 12: 115,432,134 (GRCm39) R59H probably damaging Het
Igsf9b G A 9: 27,228,752 (GRCm39) V171I probably benign Het
Il31ra C T 13: 112,664,079 (GRCm39) E533K possibly damaging Het
Iqgap1 A C 7: 80,385,261 (GRCm39) L1022R probably damaging Het
Kcna4 T C 2: 107,126,813 (GRCm39) F516L probably damaging Het
Kmt2e A G 5: 23,668,081 (GRCm39) T47A possibly damaging Het
L3mbtl2 A G 15: 81,548,175 (GRCm39) probably benign Het
Ldhb-ps C A 19: 21,915,601 (GRCm39) noncoding transcript Het
Lipo3 T A 19: 33,757,749 (GRCm39) Q240L probably benign Het
Lpar5 A G 6: 125,059,461 (GRCm39) probably null Het
Lrrk2 A G 15: 91,597,031 (GRCm39) D541G probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Meig1 A G 2: 3,410,251 (GRCm39) V83A possibly damaging Het
Natd1 A C 11: 60,797,822 (GRCm39) C34W probably damaging Het
Nup205 T A 6: 35,178,996 (GRCm39) C689S probably damaging Het
Or4c104 T A 2: 88,586,219 (GRCm39) K267* probably null Het
Or52u1 T C 7: 104,237,167 (GRCm39) M52T probably benign Het
Or5d35 T C 2: 87,855,204 (GRCm39) M46T possibly damaging Het
Or6a2 G A 7: 106,600,293 (GRCm39) A258V probably benign Het
Pdgfrb A C 18: 61,212,759 (GRCm39) S888R probably damaging Het
Plppr4 T C 3: 117,115,979 (GRCm39) E626G probably damaging Het
Ppfia3 C A 7: 44,990,050 (GRCm39) A1159S possibly damaging Het
Pramel32 T A 4: 88,547,450 (GRCm39) K74* probably null Het
Prex1 A G 2: 166,480,260 (GRCm39) V160A probably benign Het
Psmb7 C T 2: 38,478,283 (GRCm39) C247Y probably benign Het
Rbm33 C T 5: 28,547,435 (GRCm39) probably null Het
Rfc5 T C 5: 117,520,485 (GRCm39) T236A probably benign Het
Sdk1 G T 5: 141,568,168 (GRCm39) R122L probably benign Het
Sh3bp1 T C 15: 78,792,195 (GRCm39) S451P possibly damaging Het
Smap1 G T 1: 23,888,347 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,927 (GRCm39) V639E probably damaging Het
Synpo2l T A 14: 20,711,765 (GRCm39) Q511L possibly damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tbc1d17 G A 7: 44,492,488 (GRCm39) P392S probably benign Het
Tef T A 15: 81,707,758 (GRCm39) I261N probably damaging Het
Tmbim1 T C 1: 74,334,519 (GRCm39) N14D possibly damaging Het
Tmprss11c T C 5: 86,404,312 (GRCm39) K121R probably benign Het
Trim36 C A 18: 46,305,599 (GRCm39) M461I probably benign Het
Trpc1 T A 9: 95,603,468 (GRCm39) M355L probably benign Het
Tspyl4 A C 10: 34,173,760 (GRCm39) D84A probably benign Het
Twf1 G T 15: 94,482,315 (GRCm39) P144T probably damaging Het
Ugt1a7c T C 1: 88,023,392 (GRCm39) C184R probably damaging Het
Unc79 C T 12: 103,013,257 (GRCm39) P283S probably damaging Het
Usp45 T C 4: 21,796,860 (GRCm39) C49R probably benign Het
Wdr11 T A 7: 129,210,658 (GRCm39) probably benign Het
Wdr27 A T 17: 15,152,816 (GRCm39) M97K 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
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
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'- AGGCATTCATTCCCACCCTG -3'
(R):5'- ACACCTAAAATCCCATGTCATGTG -3'

Sequencing Primer
(F):5'- GGGAGTCTCCACATTGCCTCAC -3'
(R):5'- CCATGTCATGTGGGGCC -3'
Posted On 2015-12-29