Incidental Mutation 'R5605:H2-Eb1'
ID 439268
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 043270-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5605 (G1)
Quality Score 187
Status Validated
Chromosome 17
Chromosomal Location 34524841-34535648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34528807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 113 (S113P)
Ref Sequence ENSEMBL: ENSMUSP00000074143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074557]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074557
AA Change: S113P

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074143
Gene: ENSMUSG00000060586
AA Change: S113P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174074
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,575,425 (GRCm39) G83* probably null Het
Arap2 A T 5: 62,772,410 (GRCm39) M1476K possibly damaging Het
Catsper2 G A 2: 121,227,533 (GRCm39) R546C possibly damaging Het
Ceacam5 T C 7: 17,481,161 (GRCm39) F303L probably benign Het
Clvs1 A G 4: 9,281,751 (GRCm39) D65G probably damaging Het
Coq5 T C 5: 115,421,776 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,168,699 (GRCm39) V950E probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dnah7c A G 1: 46,837,395 (GRCm39) D3936G possibly damaging Het
Doc2b T C 11: 75,662,786 (GRCm39) E404G probably damaging Het
Dsg1b C T 18: 20,532,596 (GRCm39) P547S probably benign Het
Eif1ad17 T A 12: 87,978,768 (GRCm39) C51S probably damaging Het
Erich6 A G 3: 58,532,540 (GRCm39) Y356H probably damaging Het
Galnt6 C T 15: 100,595,106 (GRCm39) R465Q probably damaging Het
Gbp5 T C 3: 142,207,037 (GRCm39) S69P probably damaging Het
Gdpd4 T C 7: 97,655,507 (GRCm39) V562A probably benign Het
Greb1 A T 12: 16,758,727 (GRCm39) V663D probably damaging Het
Gtf3c3 A T 1: 54,455,085 (GRCm39) S593T probably benign Het
Herc3 C T 6: 58,834,712 (GRCm39) R240C probably damaging Het
Iqub T C 6: 24,505,620 (GRCm39) D96G probably benign Het
Irag1 C T 7: 110,545,209 (GRCm39) C29Y possibly damaging Het
Kcnt2 A T 1: 140,502,481 (GRCm39) E858D possibly damaging Het
Lcor T A 19: 41,571,302 (GRCm39) I165N probably damaging Het
Lrp2 C T 2: 69,353,643 (GRCm39) R539K probably damaging Het
Lrrc10 C A 10: 116,881,805 (GRCm39) P160T probably damaging Het
Map3k12 G T 15: 102,412,300 (GRCm39) D280E probably benign Het
Mcub T C 3: 129,710,658 (GRCm39) E258G probably damaging Het
Mdn1 T C 4: 32,765,664 (GRCm39) S5208P probably benign Het
Med20 C A 17: 47,934,069 (GRCm39) probably benign Het
Mertk T C 2: 128,580,227 (GRCm39) V227A probably benign Het
Ncstn A G 1: 171,908,717 (GRCm39) probably benign Het
Nedd4l T C 18: 65,307,315 (GRCm39) probably null Het
Nfyc A G 4: 120,647,686 (GRCm39) probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nt5dc1 C T 10: 34,279,691 (GRCm39) C117Y probably benign Het
Nup88 A T 11: 70,834,896 (GRCm39) probably benign Het
Or6z7 C T 7: 6,483,325 (GRCm39) V277M probably benign Het
Pbrm1 T A 14: 30,757,949 (GRCm39) I193K probably benign Het
Pcsk2 T C 2: 143,591,165 (GRCm39) probably benign Het
Pdzd2 A T 15: 12,592,436 (GRCm39) C69* probably null Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Prima1 T A 12: 103,166,163 (GRCm39) I124F probably benign Het
Rbm34 T C 8: 127,676,169 (GRCm39) K382R probably benign Het
Rftn1 T G 17: 50,354,435 (GRCm39) N309T probably damaging Het
Septin1 C T 7: 126,814,598 (GRCm39) D260N probably damaging Het
Serpina3g T C 12: 104,207,299 (GRCm39) V154A probably damaging Het
Spef2 A T 15: 9,609,606 (GRCm39) N1306K probably damaging Het
Stk4 T C 2: 163,921,486 (GRCm39) F29S probably damaging Het
Stxbp5 A G 10: 9,645,490 (GRCm39) probably benign Het
Tbl3 T C 17: 24,919,733 (GRCm39) T774A probably benign Het
Tinag A G 9: 76,952,694 (GRCm39) Y97H probably damaging Het
Tpm1 T C 9: 66,956,317 (GRCm39) E33G probably damaging Het
Usp17lb T C 7: 104,489,847 (GRCm39) E359G probably benign Het
Vmn2r91 A G 17: 18,356,763 (GRCm39) E810G probably damaging Het
Vwce A T 19: 10,635,402 (GRCm39) T633S possibly damaging Het
Ylpm1 G A 12: 85,075,627 (GRCm39) R326H 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
R5667:H2-Eb1 UTSW 17 34,533,229 (GRCm39) nonsense probably null
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'- CGGCTTCTGGAAAGATACTTCTAC -3'
(R):5'- TCAGCAGTTAATGGTACCAAGG -3'

Sequencing Primer
(F):5'- CTGGAAAGATACTTCTACAACCTGG -3'
(R):5'- AATTCCGTTCCCCTGCCAAGAG -3'
Posted On 2016-10-26