Incidental Mutation 'R5632:H2-DMa'
ID 439946
Institutional Source Beutler Lab
Gene Symbol H2-DMa
Ensembl Gene ENSMUSG00000037649
Gene Name histocompatibility 2, class II, locus DMa
Synonyms H-2Ma, H2-Ma, H2-M alpha
MMRRC Submission 043283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R5632 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34338667-34358075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34356975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 158 (T158A)
Ref Sequence ENSEMBL: ENSMUSP00000037088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042121]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042121
AA Change: T158A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037088
Gene: ENSMUSG00000037649
AA Change: T158A

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MHC_II_alpha 42 123 2.83e-19 SMART
IGc1 142 212 5.82e-23 SMART
transmembrane domain 231 253 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173907
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired antigen presenting cell function, poor IgG responses to T-dependent antigens, reduced numbers of mature CD4+ T cells, and increased susceptibility to Leishmania major infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,664,076 (GRCm39) T7A probably benign Het
Adam33 T G 2: 130,895,362 (GRCm39) D619A probably damaging Het
Ajm1 T C 2: 25,469,276 (GRCm39) T212A probably benign Het
Aldh3b3 C T 19: 4,018,522 (GRCm39) probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Arhgef40 C A 14: 52,231,795 (GRCm39) T727K probably damaging Het
Arrdc1 T C 2: 24,817,840 (GRCm39) T43A probably benign Het
Bcl2l15 A G 3: 103,743,378 (GRCm39) N93S probably benign Het
Cd5l G T 3: 87,273,414 (GRCm39) E128* probably null Het
Cep97 T C 16: 55,735,946 (GRCm39) D284G probably benign Het
Ckmt1 T A 2: 121,191,073 (GRCm39) S162T probably damaging Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cpeb4 A G 11: 31,839,877 (GRCm39) D53G probably damaging Het
Crocc2 T A 1: 93,145,575 (GRCm39) S1485R probably damaging Het
Dcaf5 G A 12: 80,444,526 (GRCm39) A189V probably damaging Het
Duox2 C T 2: 122,111,936 (GRCm39) G1355S probably damaging Het
Fam120b C T 17: 15,623,344 (GRCm39) P441S probably benign Het
Fbxo41 A G 6: 85,461,486 (GRCm39) L74P probably damaging Het
Hcar2 T A 5: 124,002,532 (GRCm39) T324S probably benign Het
Hif3a T C 7: 16,784,580 (GRCm39) I222V possibly damaging Het
Ighv1-7 A G 12: 114,502,501 (GRCm39) probably benign Het
Il20 T C 1: 130,835,165 (GRCm39) E151G probably benign Het
Jarid2 A G 13: 45,049,766 (GRCm39) E236G probably damaging Het
Knl1 T C 2: 118,900,833 (GRCm39) S845P probably damaging Het
Lamc2 T C 1: 153,007,636 (GRCm39) Y846C probably damaging Het
Lrp5 A G 19: 3,672,512 (GRCm39) V599A probably benign Het
Lrrc8b T A 5: 105,628,163 (GRCm39) S170T possibly damaging Het
Mex3d T C 10: 80,218,428 (GRCm39) K263R probably damaging Het
Mtor A G 4: 148,553,463 (GRCm39) K784E possibly damaging Het
Naip5 C A 13: 100,367,170 (GRCm39) probably null Het
Ncor1 T C 11: 62,229,060 (GRCm39) T609A possibly damaging Het
Ndufs1 C T 1: 63,189,218 (GRCm39) A536T probably benign Het
Neto1 A G 18: 86,516,768 (GRCm39) I362V probably benign Het
Nfatc3 T C 8: 106,805,689 (GRCm39) L178P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nsd3 C T 8: 26,169,985 (GRCm39) T707M probably benign Het
Or51f2 A C 7: 102,527,004 (GRCm39) S226R probably benign Het
Or5w1b A T 2: 87,475,573 (GRCm39) V298E probably damaging Het
Or9g19 T C 2: 85,600,613 (GRCm39) V156A probably benign Het
Pcnx1 T A 12: 81,964,504 (GRCm39) S224T probably damaging Het
Peak1 T C 9: 56,165,058 (GRCm39) T957A probably damaging Het
Pex7 A T 10: 19,764,483 (GRCm39) D153E probably damaging Het
Plscr1 A G 9: 92,148,477 (GRCm39) E139G probably damaging Het
Psmb8 T C 17: 34,420,214 (GRCm39) Y269H probably benign Het
Rmc1 T C 18: 12,304,640 (GRCm39) F72L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sft2d2 T C 1: 165,012,657 (GRCm39) T80A probably damaging Het
Slc12a5 A G 2: 164,829,141 (GRCm39) I583M possibly damaging Het
Slc23a4 T C 6: 34,933,957 (GRCm39) M49V probably benign Het
Smarcb1 G A 10: 75,740,252 (GRCm39) Q309* probably null Het
Sphkap A T 1: 83,256,006 (GRCm39) V294E probably benign Het
Stoml1 C A 9: 58,160,653 (GRCm39) P35Q probably damaging Het
Timm10b G C 7: 105,290,329 (GRCm39) R42P probably damaging Het
Tnfrsf8 A T 4: 145,019,203 (GRCm39) S211T possibly damaging Het
Ttn T C 2: 76,536,164 (GRCm39) T26738A probably damaging Het
Vps13d A T 4: 144,801,452 (GRCm39) Y474N probably damaging Het
Wdr81 A T 11: 75,336,732 (GRCm39) F1552L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wnt7a A C 6: 91,371,637 (GRCm39) Y108* probably null Het
Zfp512b C T 2: 181,227,461 (GRCm39) R56K probably benign Het
Other mutations in H2-DMa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03286:H2-DMa APN 17 34,356,083 (GRCm39) splice site probably null
R0422:H2-DMa UTSW 17 34,356,921 (GRCm39) missense probably damaging 1.00
R0620:H2-DMa UTSW 17 34,356,934 (GRCm39) missense probably damaging 0.96
R1240:H2-DMa UTSW 17 34,357,380 (GRCm39) critical splice acceptor site probably null
R1483:H2-DMa UTSW 17 34,354,724 (GRCm39) missense possibly damaging 0.61
R1656:H2-DMa UTSW 17 34,357,116 (GRCm39) missense possibly damaging 0.92
R1657:H2-DMa UTSW 17 34,356,373 (GRCm39) critical splice donor site probably null
R1696:H2-DMa UTSW 17 34,357,387 (GRCm39) missense probably benign 0.44
R2884:H2-DMa UTSW 17 34,356,121 (GRCm39) missense probably damaging 1.00
R2886:H2-DMa UTSW 17 34,356,121 (GRCm39) missense probably damaging 1.00
R5024:H2-DMa UTSW 17 34,357,461 (GRCm39) missense possibly damaging 0.77
R5236:H2-DMa UTSW 17 34,356,913 (GRCm39) missense probably damaging 1.00
R6358:H2-DMa UTSW 17 34,356,958 (GRCm39) missense probably damaging 1.00
R6423:H2-DMa UTSW 17 34,356,170 (GRCm39) missense probably benign 0.05
R7033:H2-DMa UTSW 17 34,355,971 (GRCm39) splice site probably null
R7387:H2-DMa UTSW 17 34,357,101 (GRCm39) missense probably damaging 1.00
R8060:H2-DMa UTSW 17 34,356,259 (GRCm39) missense probably benign 0.05
R8504:H2-DMa UTSW 17 34,357,416 (GRCm39) missense probably damaging 1.00
R8813:H2-DMa UTSW 17 34,354,734 (GRCm39) critical splice donor site probably benign
R9442:H2-DMa UTSW 17 34,357,132 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ACACAGTGTCCTAGCTGCAG -3'
(R):5'- TCACCCCAATAGGCAATTGC -3'

Sequencing Primer
(F):5'- CAGTTTTTGCCGGGAAGACC -3'
(R):5'- GCAATTGCCGTGTAGCG -3'
Posted On 2016-11-08