Incidental Mutation 'R8682:H2-Aa'
ID 661844
Institutional Source Beutler Lab
Gene Symbol H2-Aa
Ensembl Gene ENSMUSG00000036594
Gene Name histocompatibility 2, class II antigen A, alpha
Synonyms Ia1, I-Aalpha, H-2Aa, A alpha, Aalpha, Ia-1
MMRRC Submission 068537-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 34501718-34506797 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34502734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 144 (I144T)
Ref Sequence ENSEMBL: ENSMUSP00000046105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040655] [ENSMUST00000174751]
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: ENSMUST00000040655
AA Change: I144T

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046105
Gene: ENSMUSG00000036594
AA Change: I144T

DomainStartEndE-ValueType
MHC_II_alpha 31 111 1.83e-45 SMART
IGc1 129 200 2.51e-27 SMART
Pfam:C1-set_C 203 255 2.1e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174751
AA Change: I61T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133399
Gene: ENSMUSG00000036594
AA Change: I61T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGc1 46 117 2.51e-27 SMART
low complexity region 141 158 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele lack cell surface expression of MHC class II molecules on macrophages and show decreased CD4-positive T cell number, increased CD8-positive T cell number, thymus hyperplasia, enlarged lymph nodes, and altered splenocyte response to staphylococcal enterotoxin B. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,314,725 (GRCm39) L141Q probably null Het
Abtb2 A T 2: 103,397,720 (GRCm39) T217S probably benign Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Angpt4 A G 2: 151,769,005 (GRCm39) M172V probably benign Het
Apaf1 A T 10: 90,831,532 (GRCm39) V1194D probably damaging Het
Arhgap30 T C 1: 171,234,970 (GRCm39) S479P probably benign Het
Asah2 C T 19: 32,030,277 (GRCm39) V132M probably damaging Het
Bmp10 A G 6: 87,410,541 (GRCm39) probably null Het
Bsn T C 9: 107,983,368 (GRCm39) Y790C Het
Cacna2d1 C A 5: 16,558,837 (GRCm39) R732S possibly damaging Het
Casr A T 16: 36,315,784 (GRCm39) F762Y possibly damaging Het
Cbln1 T C 8: 88,198,735 (GRCm39) D45G possibly damaging Het
Cd177 A T 7: 24,459,438 (GRCm39) M61K possibly damaging Het
Cdh11 T C 8: 103,377,348 (GRCm39) I433V probably benign Het
Cdhr5 A G 7: 140,855,899 (GRCm39) probably null Het
Col12a1 T A 9: 79,568,358 (GRCm39) K1622I probably benign Het
Cyp2d9 A G 15: 82,337,917 (GRCm39) D103G probably damaging Het
Dync2i1 A T 12: 116,188,610 (GRCm39) H661Q probably damaging Het
Eif4a3l1 A G 6: 136,306,027 (GRCm39) T163A possibly damaging Het
Fem1b A T 9: 62,704,432 (GRCm39) L276* probably null Het
Fggy T A 4: 95,700,358 (GRCm39) V343E probably damaging Het
Flt3 A G 5: 147,320,265 (GRCm39) V33A probably benign Het
Grn T C 11: 102,325,646 (GRCm39) Y288H probably benign Het
Grtp1 G A 8: 13,229,499 (GRCm39) R272W probably damaging Het
Herc1 A G 9: 66,370,130 (GRCm39) D469G Het
Hsf2 G A 10: 57,381,267 (GRCm39) E286K possibly damaging Het
Hydin A G 8: 111,035,798 (GRCm39) E163G probably damaging Het
Il6ra A G 3: 89,793,976 (GRCm39) I224T possibly damaging Het
Itih3 T A 14: 30,642,673 (GRCm39) I204F possibly damaging Het
Kcnj9 A T 1: 172,153,680 (GRCm39) M148K possibly damaging Het
Lepr T G 4: 101,649,269 (GRCm39) V890G probably benign Het
Mslnl A G 17: 25,965,962 (GRCm39) D612G probably benign Het
Myl2 T A 5: 122,244,798 (GRCm39) V156D probably damaging Het
Neb C A 2: 52,136,857 (GRCm39) W3208L probably damaging Het
Neto2 T C 8: 86,367,295 (GRCm39) Y511C probably benign Het
Obi1 G T 14: 104,717,669 (GRCm39) R235S probably damaging Het
Obox2 C A 7: 15,130,912 (GRCm39) T48K possibly damaging Het
Or14a259 C T 7: 86,013,373 (GRCm39) M57I probably damaging Het
Or51f2 T A 7: 102,526,646 (GRCm39) F106L probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Osbpl6 C G 2: 76,407,425 (GRCm39) H486D probably benign Het
Pfkfb3 T C 2: 11,489,144 (GRCm39) K264E probably benign Het
Phf11 G A 14: 59,496,033 (GRCm39) T27I probably benign Het
Pla2r1 T A 2: 60,253,120 (GRCm39) T1324S possibly damaging Het
Plekhg1 A T 10: 3,897,523 (GRCm39) Y495F Het
Ppp2r5d T C 17: 46,997,989 (GRCm39) K225E probably benign Het
Ptpn11 T C 5: 121,306,053 (GRCm39) D64G possibly damaging Het
Ptprs A G 17: 56,742,849 (GRCm39) I431T probably damaging Het
Rapgef5 T C 12: 117,545,432 (GRCm39) S100P probably benign Het
Shh T A 5: 28,663,058 (GRCm39) H370L probably benign Het
Siah3 A T 14: 75,763,043 (GRCm39) H98L possibly damaging Het
Sim2 C T 16: 93,924,192 (GRCm39) H446Y probably benign Het
Skint4 T C 4: 111,993,237 (GRCm39) I320T possibly damaging Het
Sorcs1 A T 19: 50,367,398 (GRCm39) N221K probably damaging Het
Sox6 T C 7: 115,076,191 (GRCm39) S816G probably damaging Het
Sphkap T C 1: 83,256,997 (GRCm39) T251A probably benign Het
Stard9 T C 2: 120,533,796 (GRCm39) V3351A possibly damaging Het
Tbc1d15 A G 10: 115,046,195 (GRCm39) V436A probably benign Het
Thsd7b A T 1: 129,688,011 (GRCm39) K641* probably null Het
Tmc5 G T 7: 118,269,925 (GRCm39) V892F possibly damaging Het
Tpsab1 T A 17: 25,562,685 (GRCm39) H238L probably benign Het
Trank1 A G 9: 111,194,412 (GRCm39) N812S probably benign Het
Trio T A 15: 27,905,278 (GRCm39) N163Y unknown Het
Ttc39d A G 17: 80,524,693 (GRCm39) T451A probably benign Het
Ube3b T C 5: 114,550,351 (GRCm39) L832P probably damaging Het
Vmn2r15 C A 5: 109,441,938 (GRCm39) C165F probably damaging Het
Vmn2r90 T C 17: 17,932,344 (GRCm39) F84L possibly damaging Het
Wdr95 C T 5: 149,518,752 (GRCm39) T531I possibly damaging Het
Zcrb1 C A 15: 93,284,118 (GRCm39) G191V probably benign Het
Zfp111 G A 7: 23,897,983 (GRCm39) P544S probably damaging Het
Zfyve9 T C 4: 108,576,539 (GRCm39) S181G probably benign Het
Other mutations in H2-Aa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:H2-Aa APN 17 34,503,504 (GRCm39) missense probably damaging 1.00
citation UTSW 17 34,506,651 (GRCm39) splice site probably null
reference UTSW 17 34,502,794 (GRCm39) missense probably damaging 1.00
G1citation:H2-Aa UTSW 17 34,506,651 (GRCm39) splice site probably null
R1556:H2-Aa UTSW 17 34,503,390 (GRCm39) missense possibly damaging 0.94
R1901:H2-Aa UTSW 17 34,502,207 (GRCm39) missense possibly damaging 0.65
R2144:H2-Aa UTSW 17 34,502,801 (GRCm39) missense probably damaging 1.00
R4816:H2-Aa UTSW 17 34,502,794 (GRCm39) missense probably damaging 1.00
R5607:H2-Aa UTSW 17 34,502,816 (GRCm39) missense possibly damaging 0.89
R5608:H2-Aa UTSW 17 34,502,816 (GRCm39) missense possibly damaging 0.89
R6264:H2-Aa UTSW 17 34,502,172 (GRCm39) missense probably damaging 0.98
R6822:H2-Aa UTSW 17 34,506,651 (GRCm39) splice site probably null
R6917:H2-Aa UTSW 17 34,502,681 (GRCm39) missense probably damaging 1.00
R7052:H2-Aa UTSW 17 34,503,484 (GRCm39) missense possibly damaging 0.50
R7116:H2-Aa UTSW 17 34,502,601 (GRCm39) nonsense probably null
R8168:H2-Aa UTSW 17 34,506,695 (GRCm39) missense possibly damaging 0.83
R8257:H2-Aa UTSW 17 34,502,211 (GRCm39) missense probably damaging 0.97
R8264:H2-Aa UTSW 17 34,506,709 (GRCm39) missense probably benign 0.18
R9667:H2-Aa UTSW 17 34,502,295 (GRCm39) missense probably benign
X0063:H2-Aa UTSW 17 34,506,785 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACCCCAGTGTTTCAGAACCG -3'
(R):5'- GGCTCTGTGACCATCATGTGTG -3'

Sequencing Primer
(F):5'- AGTGTTTCAGAACCGGCTCC -3'
(R):5'- GACCATCATGTGTGCAAGTC -3'
Posted On 2021-03-08