Incidental Mutation 'R7437:Ebi3'
ID 576697
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 045513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7437 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56259640-56264022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56261410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 102 (M102K)
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: M102K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003274
Gene: ENSMUSG00000003206
AA Change: M102K

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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,619,472 (GRCm39) I1192F probably damaging Het
Abca8a A G 11: 109,941,790 (GRCm39) S1160P probably benign Het
Adamtsl2 A G 2: 26,979,721 (GRCm39) I297V probably damaging Het
Aebp1 T A 11: 5,819,757 (GRCm39) F687L possibly damaging Het
Ahsa1 A G 12: 87,314,930 (GRCm39) T28A probably damaging Het
Akap3 A T 6: 126,842,618 (GRCm39) K412N probably damaging Het
Atl1 A G 12: 69,978,396 (GRCm39) I123V probably benign Het
Atp10a G A 7: 58,308,288 (GRCm39) R29H unknown Het
C4b T C 17: 34,953,707 (GRCm39) D967G probably benign Het
Ccdc186 T C 19: 56,795,429 (GRCm39) N416S probably damaging Het
Ccna2 T C 3: 36,625,239 (GRCm39) probably benign Het
Cep70 T C 9: 99,173,582 (GRCm39) L371P probably damaging Het
Cfap46 A T 7: 139,230,753 (GRCm39) C958* probably null Het
Crlf2 T C 5: 109,702,839 (GRCm39) D318G probably benign Het
Csf1 T C 3: 107,658,072 (GRCm39) N14D probably benign Het
Dars1 A G 1: 128,299,941 (GRCm39) Y348H possibly damaging Het
Dnah2 T C 11: 69,389,453 (GRCm39) E813G probably damaging Het
Epg5 A G 18: 78,066,493 (GRCm39) D2131G probably benign Het
Fam186a A T 15: 99,840,775 (GRCm39) L1823H probably damaging Het
H2-M3 T C 17: 37,583,569 (GRCm39) M309T probably benign Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ino80 A G 2: 119,273,067 (GRCm39) S470P possibly damaging Het
Kcnh5 C T 12: 75,184,417 (GRCm39) probably null Het
Kif24 T C 4: 41,404,687 (GRCm39) T438A possibly damaging Het
Kndc1 G A 7: 139,488,959 (GRCm39) G205R probably damaging Het
Lrp1b A T 2: 40,712,657 (GRCm39) Y3226N Het
Lrp1b G T 2: 40,712,658 (GRCm39) D3225E Het
Megf10 G C 18: 57,395,203 (GRCm39) G522R probably damaging Het
Nectin2 A T 7: 19,483,193 (GRCm39) L12* probably null Het
Ngef A T 1: 87,408,327 (GRCm39) M580K probably damaging Het
Oga A T 19: 45,767,046 (GRCm39) M110K possibly damaging Het
Or10ag56 A G 2: 87,139,687 (GRCm39) M205V probably benign Het
Or1e1c A G 11: 73,265,844 (GRCm39) S93G probably benign Het
Or5an1b T C 19: 12,299,472 (GRCm39) N240D probably damaging Het
Pcdhb13 T C 18: 37,577,728 (GRCm39) L702P probably damaging Het
Pcdhb17 A G 18: 37,619,145 (GRCm39) I312V probably benign Het
Pglyrp3 A G 3: 91,937,985 (GRCm39) N265D probably benign Het
Pkd1l2 A G 8: 117,757,421 (GRCm39) V1539A probably damaging Het
Prxl2b C A 4: 154,981,053 (GRCm39) C194F possibly damaging Het
Rcn2 T C 9: 55,965,353 (GRCm39) L274P probably damaging Het
Rpp30 A G 19: 36,081,838 (GRCm39) E267G possibly damaging Het
Rundc3a A G 11: 102,289,230 (GRCm39) M134V probably damaging Het
Samd3 A T 10: 26,146,004 (GRCm39) Q343L possibly damaging Het
Serpinb3c A T 1: 107,199,444 (GRCm39) F359Y probably damaging Het
Slc9a9 T C 9: 95,110,994 (GRCm39) L604P probably benign Het
Strn3 A T 12: 51,656,946 (GRCm39) H777Q probably damaging Het
Tap1 G A 17: 34,409,616 (GRCm39) W284* probably null Het
Tlcd5 C T 9: 43,023,080 (GRCm39) W91* probably null Het
Tmem181a A G 17: 6,353,540 (GRCm39) D384G possibly damaging Het
Txndc12 T C 4: 108,713,368 (GRCm39) S77P probably damaging Het
Wnt16 G A 6: 22,288,560 (GRCm39) V19M probably benign Het
Zfp932 T A 5: 110,157,880 (GRCm39) M526K probably benign Het
Zfp959 G T 17: 56,205,334 (GRCm39) C457F probably damaging Het
Zscan4-ps3 T C 7: 11,346,863 (GRCm39) S300P probably benign 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
R6133:Ebi3 UTSW 17 56,261,311 (GRCm39) missense probably benign 0.32
R7985:Ebi3 UTSW 17 56,260,997 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- AGTTCTTCAGAATCCACAGTCCC -3'
(R):5'- ACATTGGAGCAGAGACCCAG -3'

Sequencing Primer
(F):5'- ATATCACCCCCTGAGCGTG -3'
(R):5'- GCAATGCAAAGGCCCCG -3'
Posted On 2019-10-07