Incidental Mutation 'R6133:Ebi3'
ID 512267
Institutional Source Beutler Lab
Gene Symbol Ebi3
Ensembl Gene ENSMUSG00000003206
Gene Name Epstein-Barr virus induced gene 3
Synonyms EBI-3, IL-27
MMRRC Submission 044280-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6133 (G1)
Quality Score 71.0074
Status Validated
Chromosome 17
Chromosomal Location 56259640-56264022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56261311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 69 (V69E)
Ref Sequence ENSEMBL: ENSMUSP00000003274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003274] [ENSMUST00000086869] [ENSMUST00000189452]
AlphaFold O35228
Predicted Effect probably benign
Transcript: ENSMUST00000003274
AA Change: V69E

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000003274
Gene: ENSMUSG00000003206
AA Change: V69E

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FN3 128 212 3.01e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086869
SMART Domains Protein: ENSMUSP00000084082
Gene: ENSMUSG00000003208

DomainStartEndE-ValueType
Pfam:DUF572 1 311 9.3e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181962
Predicted Effect probably benign
Transcript: ENSMUST00000189452
SMART Domains Protein: ENSMUSP00000139791
Gene: ENSMUSG00000062101

DomainStartEndE-ValueType
Blast:KRAB 1 34 8e-11 BLAST
ZnF_C2H2 123 143 1.2e-1 SMART
ZnF_C2H2 255 277 4.7e-5 SMART
ZnF_C2H2 283 305 9.1e-6 SMART
ZnF_C2H2 311 333 2.2e-5 SMART
ZnF_C2H2 339 361 2e-5 SMART
ZnF_C2H2 367 389 4.7e-6 SMART
ZnF_C2H2 395 417 2.1e-5 SMART
ZnF_C2H2 423 445 3.2e-6 SMART
ZnF_C2H2 451 473 2e-6 SMART
ZnF_C2H2 479 501 5.2e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced numbers of invariant natural killer (NK) T cells, show impaired Th2 responses, are resistant to the induction of oxazolone-induced colitis, and display impaired early Th1 immunity against Leishmania parasitic infections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 A G 8: 89,052,067 (GRCm39) T912A possibly damaging Het
Akap12 G T 10: 4,305,178 (GRCm39) G663C probably benign Het
Ankhd1 T C 18: 36,758,179 (GRCm39) S958P possibly damaging Het
Cmtm2a T C 8: 105,019,362 (GRCm39) I76V probably benign Het
Cpxm2 G A 7: 131,730,182 (GRCm39) P146S probably damaging Het
Cubn A G 2: 13,313,429 (GRCm39) V3047A probably benign Het
Dgkd T A 1: 87,865,962 (GRCm39) V198E possibly damaging Het
Dnah3 A T 7: 119,685,469 (GRCm39) M181K probably benign Het
Dnah7a T C 1: 53,458,814 (GRCm39) T3775A probably benign Het
Dsg2 A G 18: 20,723,146 (GRCm39) I391V probably benign Het
Fn1 T C 1: 71,636,886 (GRCm39) T1998A probably damaging Het
Frmpd1 T A 4: 45,284,915 (GRCm39) H1245Q probably benign Het
Gm7145 T A 1: 117,913,618 (GRCm39) C167S probably damaging Het
Hydin C T 8: 111,327,908 (GRCm39) T4805I probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnma1 C T 14: 24,053,936 (GRCm39) M21I probably damaging Het
Lrfn5 A G 12: 61,890,574 (GRCm39) D621G probably benign Het
Lrrc15 C T 16: 30,093,054 (GRCm39) G95D probably benign Het
Mex3d A G 10: 80,222,620 (GRCm39) L212P probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Naip1 A G 13: 100,581,151 (GRCm39) V32A probably benign Het
Nsl1 T C 1: 190,803,403 (GRCm39) L158P probably damaging Het
Or51q1c A T 7: 103,652,532 (GRCm39) T17S possibly damaging Het
Or6c202 G A 10: 128,996,752 (GRCm39) L34F possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pakap C T 4: 57,855,516 (GRCm39) Q525* probably null Het
Pcdh15 A T 10: 74,481,805 (GRCm39) probably null Het
Pramel15 T C 4: 144,104,347 (GRCm39) R53G possibly damaging Het
Ptpn1 T C 2: 167,809,716 (GRCm39) V108A possibly damaging Het
Rad9b T C 5: 122,477,831 (GRCm39) N182D possibly damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scn2a G A 2: 65,573,448 (GRCm39) V1433I probably benign Het
Ssrp1 T G 2: 84,875,683 (GRCm39) probably benign Het
Suco T A 1: 161,662,752 (GRCm39) K560* probably null Het
Tbx3 T C 5: 119,819,018 (GRCm39) V531A probably benign Het
Tmem30c T C 16: 57,098,100 (GRCm39) Y107C probably damaging Het
Topbp1 T A 9: 103,188,963 (GRCm39) probably null Het
Trpm5 A T 7: 142,642,688 (GRCm39) D86E probably damaging Het
Urb2 C T 8: 124,755,300 (GRCm39) Q336* probably null Het
Vmn2r43 A G 7: 8,247,970 (GRCm39) F731S probably damaging Het
Xkr9 A G 1: 13,754,359 (GRCm39) T118A probably benign Het
Zcchc2 A C 1: 105,947,609 (GRCm39) K117N probably damaging Het
Zfp52 T C 17: 21,780,733 (GRCm39) Y194H probably damaging Het
Zfp763 C T 17: 33,237,675 (GRCm39) C490Y possibly damaging Het
Zmynd19 G T 2: 24,848,131 (GRCm39) R148L possibly damaging Het
Other mutations in Ebi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1670:Ebi3 UTSW 17 56,261,479 (GRCm39) missense probably damaging 1.00
R1843:Ebi3 UTSW 17 56,263,679 (GRCm39) missense probably damaging 1.00
R7437:Ebi3 UTSW 17 56,261,410 (GRCm39) missense probably benign
R7985:Ebi3 UTSW 17 56,260,997 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGATCCACTCAGGGTAGGAG -3'
(R):5'- TGATTCGCTCAGCCACAAAGG -3'

Sequencing Primer
(F):5'- CTTCTAAAGCAACAGAACAAGTGTG -3'
(R):5'- GCTAGGAGGCTGCTGCTG -3'
Posted On 2018-04-19