Incidental Mutation 'R5667:H2-Eb1'
ID 444505
Institutional Source Beutler Lab
Gene Symbol H2-Eb1
Ensembl Gene ENSMUSG00000060586
Gene Name histocompatibility 2, class II antigen E beta
Synonyms H-2Eb, Ia-4, Ia4
MMRRC Submission 043310-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5667 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34524841-34535648 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 34533229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 150 (Y150*)
Ref Sequence ENSEMBL: ENSMUSP00000074143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074557]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000074557
AA Change: Y150*
SMART Domains Protein: ENSMUSP00000074143
Gene: ENSMUSG00000060586
AA Change: Y150*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MHC_II_beta 40 114 4.64e-47 SMART
IGc1 139 210 2.24e-24 SMART
transmembrane domain 226 248 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, 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 its gene contains 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Adamts16 A T 13: 70,984,494 (GRCm39) Y56* probably null Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 A G 6: 85,673,753 (GRCm39) D3116G probably damaging Het
Arhgap24 T G 5: 102,994,037 (GRCm39) probably null Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Atp8b1 C T 18: 64,714,994 (GRCm39) C86Y probably damaging Het
Atxn1 T C 13: 45,710,853 (GRCm39) K693R probably benign Het
Bltp1 A T 3: 36,971,826 (GRCm39) T520S probably benign Het
Btbd10 T C 7: 112,931,931 (GRCm39) K165R probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Chordc1 T G 9: 18,206,628 (GRCm39) F33V probably damaging Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Cyfip1 C T 7: 55,523,478 (GRCm39) T90I probably benign Het
Cyp4v3 G T 8: 45,761,572 (GRCm39) T417K possibly damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Foxa1 A T 12: 57,589,081 (GRCm39) S380T probably benign Het
Foxi2 A T 7: 135,012,668 (GRCm39) probably null Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Katnip T A 7: 125,442,627 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Lrrn3 A C 12: 41,502,297 (GRCm39) S673R possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Mycn A T 12: 12,990,045 (GRCm39) M117K possibly damaging Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nod1 T C 6: 54,910,561 (GRCm39) T869A probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Plekhg2 A T 7: 28,067,064 (GRCm39) I356N probably damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rpl36al G A 12: 69,229,897 (GRCm39) P5L possibly damaging Het
Ryr2 A G 13: 11,774,722 (GRCm39) W1145R probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a6 A G 19: 8,599,148 (GRCm39) probably null Het
Styxl1 A G 5: 135,785,977 (GRCm39) probably null Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Trpv4 A G 5: 114,772,617 (GRCm39) L371P probably damaging Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Other mutations in H2-Eb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0724:H2-Eb1 UTSW 17 34,534,006 (GRCm39) splice site probably benign
R0763:H2-Eb1 UTSW 17 34,533,133 (GRCm39) splice site probably benign
R2029:H2-Eb1 UTSW 17 34,533,366 (GRCm39) missense probably damaging 1.00
R3155:H2-Eb1 UTSW 17 34,533,348 (GRCm39) missense probably damaging 0.98
R3440:H2-Eb1 UTSW 17 34,528,655 (GRCm39) missense probably damaging 1.00
R4050:H2-Eb1 UTSW 17 34,533,342 (GRCm39) missense probably damaging 1.00
R4084:H2-Eb1 UTSW 17 34,533,417 (GRCm39) missense probably damaging 0.98
R5605:H2-Eb1 UTSW 17 34,528,807 (GRCm39) missense probably benign 0.09
R5671:H2-Eb1 UTSW 17 34,533,229 (GRCm39) nonsense probably null
R5851:H2-Eb1 UTSW 17 34,528,745 (GRCm39) missense probably benign 0.13
R6951:H2-Eb1 UTSW 17 34,528,831 (GRCm39) nonsense probably null
R7387:H2-Eb1 UTSW 17 34,533,207 (GRCm39) missense probably damaging 1.00
R9160:H2-Eb1 UTSW 17 34,528,831 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCAGTCTGGATGGATAGATGG -3'
(R):5'- TCTGGAAGTTACCACTCACTCC -3'

Sequencing Primer
(F):5'- TCTGGATGGATAGATGGAGGTAGGC -3'
(R):5'- TCCACTCGACCGTGACAG -3'
Posted On 2016-11-09