Incidental Mutation 'IGL02861:Il27'
ID 362145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il27
Ensembl Gene ENSMUSG00000044701
Gene Name interleukin 27
Synonyms IL-27, IL-27p28, Il30, p28
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02861
Quality Score
Status
Chromosome 7
Chromosomal Location 126188182-126194113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126191821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 77 (L77Q)
Ref Sequence ENSEMBL: ENSMUSP00000054637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039522] [ENSMUST00000058429] [ENSMUST00000131860] [ENSMUST00000137646] [ENSMUST00000138558] [ENSMUST00000144173]
AlphaFold Q8K3I6
Predicted Effect probably benign
Transcript: ENSMUST00000039522
SMART Domains Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759

DomainStartEndE-ValueType
low complexity region 45 59 N/A INTRINSIC
low complexity region 171 181 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
low complexity region 381 396 N/A INTRINSIC
low complexity region 465 476 N/A INTRINSIC
low complexity region 588 608 N/A INTRINSIC
low complexity region 837 862 N/A INTRINSIC
low complexity region 869 881 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058429
AA Change: L77Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054637
Gene: ENSMUSG00000044701
AA Change: L77Q

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 137 148 N/A INTRINSIC
low complexity region 160 177 N/A INTRINSIC
low complexity region 210 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131860
Predicted Effect probably benign
Transcript: ENSMUST00000137646
Predicted Effect probably benign
Transcript: ENSMUST00000138558
Predicted Effect probably benign
Transcript: ENSMUST00000144173
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop an exaggerated delayed-type hypersensitivity response and are more susceptible to experimental autoimmune encephalomyelitis due to the presence of an increased number of Th17 cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,146 (GRCm39) probably benign Het
6430548M08Rik G A 8: 120,876,863 (GRCm39) R157H probably damaging Het
Amer3 A G 1: 34,627,206 (GRCm39) K482E probably damaging Het
Ankrd11 A T 8: 123,622,566 (GRCm39) S429T probably damaging Het
Ano3 T A 2: 110,569,157 (GRCm39) N125I probably damaging Het
BC106179 T A 16: 23,042,746 (GRCm39) probably benign Het
Bclaf3 T C X: 158,338,524 (GRCm39) I457T possibly damaging Het
Cbr3 T G 16: 93,482,007 (GRCm39) V121G probably damaging Het
Cd44 A G 2: 102,662,826 (GRCm39) probably null Het
Cd72 G A 4: 43,448,332 (GRCm39) A316V probably benign Het
Cdc27 A T 11: 104,413,657 (GRCm39) probably benign Het
Cdon A T 9: 35,398,253 (GRCm39) Q990L probably damaging Het
Clk2 T C 3: 89,080,706 (GRCm39) W231R probably damaging Het
Cpsf2 G A 12: 101,965,825 (GRCm39) V597I probably benign Het
D630003M21Rik A G 2: 158,042,918 (GRCm39) V874A probably benign Het
Daam2 A G 17: 49,776,455 (GRCm39) F811L probably damaging Het
Ddx54 T C 5: 120,756,195 (GRCm39) probably benign Het
Dysf T A 6: 84,016,519 (GRCm39) L59Q probably damaging Het
Eps8 A G 6: 137,476,597 (GRCm39) Y601H probably damaging Het
Faf2 T C 13: 54,796,235 (GRCm39) Y131H probably damaging Het
Hectd4 T A 5: 121,445,067 (GRCm39) D101E possibly damaging Het
Hk2 T C 6: 82,737,139 (GRCm39) T30A possibly damaging Het
Klhdc1 T A 12: 69,298,225 (GRCm39) V83D possibly damaging Het
Manba T G 3: 135,276,024 (GRCm39) S822A probably benign Het
Mterf2 A C 10: 84,956,195 (GRCm39) V143G probably damaging Het
Ncapd3 A G 9: 26,981,195 (GRCm39) D895G probably benign Het
Or4c115 T A 2: 88,927,801 (GRCm39) I157L probably benign Het
Or6n1 T A 1: 173,916,602 (GRCm39) probably benign Het
Panx1 T C 9: 14,919,101 (GRCm39) K253E probably benign Het
Phc1 T A 6: 122,300,748 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A G 17: 42,688,208 (GRCm39) E250G probably damaging Het
Rp1 G T 1: 4,416,375 (GRCm39) S1579* probably null Het
Rrp1 A G 10: 78,245,056 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,186 (GRCm39) L4187P possibly damaging Het
Serpinc1 A T 1: 160,827,561 (GRCm39) I387F probably damaging Het
Slc2a7 G A 4: 150,252,836 (GRCm39) C492Y probably benign Het
Slf1 A G 13: 77,274,478 (GRCm39) probably benign Het
Spta1 T A 1: 174,039,164 (GRCm39) L1169Q probably damaging Het
Stap1 T A 5: 86,219,824 (GRCm39) probably benign Het
Taf6 A G 5: 138,182,147 (GRCm39) L66P probably damaging Het
Ttn T C 2: 76,632,841 (GRCm39) E14071G probably damaging Het
Unk A G 11: 115,947,125 (GRCm39) H586R possibly damaging Het
Zfpm2 A C 15: 40,966,662 (GRCm39) K917T probably damaging Het
Other mutations in Il27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Il27 APN 7 126,188,555 (GRCm39) missense probably benign 0.25
IGL02077:Il27 APN 7 126,194,051 (GRCm39) critical splice donor site probably null
R1670:Il27 UTSW 7 126,188,647 (GRCm39) missense probably benign 0.02
R4673:Il27 UTSW 7 126,190,251 (GRCm39) missense possibly damaging 0.73
R5494:Il27 UTSW 7 126,192,100 (GRCm39) missense probably damaging 1.00
R5852:Il27 UTSW 7 126,191,786 (GRCm39) missense possibly damaging 0.84
R5955:Il27 UTSW 7 126,194,070 (GRCm39) missense probably benign 0.00
R5995:Il27 UTSW 7 126,188,535 (GRCm39) unclassified probably benign
R8529:Il27 UTSW 7 126,191,977 (GRCm39) missense probably damaging 1.00
R8872:Il27 UTSW 7 126,190,194 (GRCm39) missense probably damaging 1.00
X0064:Il27 UTSW 7 126,191,798 (GRCm39) missense probably benign 0.04
Posted On 2015-12-18