Incidental Mutation 'R8529:Il27'
ID 658942
Institutional Source Beutler Lab
Gene Symbol Il27
Ensembl Gene ENSMUSG00000044701
Gene Name interleukin 27
Synonyms IL-27, IL-27p28, Il30, p28
MMRRC Submission 068499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8529 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126188182-126194113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126191977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 53 (L53Q)
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: L53Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054637
Gene: ENSMUSG00000044701
AA Change: L53Q

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,970,704 (GRCm39) Y173C probably benign Het
Ankrd55 A T 13: 112,480,670 (GRCm39) T192S probably benign Het
Apob A T 12: 8,057,353 (GRCm39) H1912L probably damaging Het
Bcl2l11 T C 2: 127,970,796 (GRCm39) S82P possibly damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Btnl10 A T 11: 58,813,238 (GRCm39) D289V probably benign Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Cdh11 G A 8: 103,391,387 (GRCm39) P283L probably benign Het
Crybg3 C A 16: 59,376,984 (GRCm39) K1423N probably damaging Het
Dgat1 T A 15: 76,387,237 (GRCm39) Y350F probably damaging Het
Dhx36 TCCGCCGCCGCCGCCGC TCCGCCGCCGCCGC 3: 62,414,277 (GRCm39) probably benign Het
Edc4 A G 8: 106,611,682 (GRCm39) D86G probably damaging Het
Ep400 T C 5: 110,867,102 (GRCm39) Y1014C unknown Het
Erbb3 A G 10: 128,419,069 (GRCm39) V264A probably damaging Het
Fam149b T A 14: 20,408,370 (GRCm39) probably null Het
Foxc1 A G 13: 31,992,520 (GRCm39) S444G unknown Het
Gm2042 G A 12: 87,926,856 (GRCm39) S391N possibly damaging Het
Gnb3 A T 6: 124,814,633 (GRCm39) N88K probably benign Het
Ifnar2 T A 16: 91,188,684 (GRCm39) V157D possibly damaging Het
Ints13 T C 6: 146,464,926 (GRCm39) E225G probably damaging Het
Itpr2 G A 6: 146,231,051 (GRCm39) R1167C probably damaging Het
Lrp2 A T 2: 69,330,986 (GRCm39) I1690K probably damaging Het
Lrrc37a T C 11: 103,348,373 (GRCm39) E2774G unknown Het
Lyz2 A T 10: 117,116,568 (GRCm39) N93K probably damaging Het
Mki67 A G 7: 135,315,688 (GRCm39) probably null Het
Mroh1 T C 15: 76,311,832 (GRCm39) F522L probably benign Het
Myo5a A G 9: 75,120,154 (GRCm39) I1626V probably benign Het
Nav3 A T 10: 109,689,192 (GRCm39) S362T probably benign Het
Neurl4 C T 11: 69,799,613 (GRCm39) P972L probably damaging Het
Or11i1 A T 3: 106,729,109 (GRCm39) Y255* probably null Het
Or13p8 A T 4: 118,583,770 (GRCm39) T109S probably benign Het
Or8a1 A T 9: 37,642,252 (GRCm39) V9E probably damaging Het
Potefam3b A G 8: 21,159,174 (GRCm39) D176G possibly damaging Het
Prdm5 C T 6: 65,878,829 (GRCm39) R128C probably damaging Het
Prom1 A T 5: 44,170,369 (GRCm39) probably null Het
Prrc2c T A 1: 162,536,663 (GRCm39) probably benign Het
Prss3b T A 6: 41,009,369 (GRCm39) Y155F probably benign Het
Ptprd T C 4: 76,047,262 (GRCm39) T322A probably damaging Het
Reg3d C G 6: 78,353,382 (GRCm39) G154R probably null Het
Rsf1 A G 7: 97,320,074 (GRCm39) probably benign Het
Ryr1 T A 7: 28,769,509 (GRCm39) T2724S possibly damaging Het
Sec63 A G 10: 42,665,379 (GRCm39) Y103C probably damaging Het
Serpinb9b A T 13: 33,223,543 (GRCm39) D245V probably benign Het
Slc22a28 G A 19: 8,040,778 (GRCm39) T491I probably benign Het
Slc24a2 T C 4: 86,946,517 (GRCm39) N484S possibly damaging Het
Slc44a3 G T 3: 121,319,334 (GRCm39) L136I probably benign Het
Tff3 A G 17: 31,348,460 (GRCm39) probably null Het
Tpp2 T A 1: 44,022,300 (GRCm39) D899E probably benign Het
Tsbp1 G T 17: 34,679,143 (GRCm39) C302F possibly damaging Het
Tsen54 G T 11: 115,711,386 (GRCm39) D268Y possibly damaging Het
Ttbk2 A C 2: 120,604,338 (GRCm39) V220G possibly damaging Het
Uggt1 A G 1: 36,223,513 (GRCm39) V592A possibly damaging Het
Usp49 A T 17: 47,983,037 (GRCm39) Q14L probably damaging Het
Vldlr T A 19: 27,207,656 (GRCm39) L48Q probably benign Het
Zbed6 T C 1: 133,584,706 (GRCm39) Y877C probably benign Het
Zp3 C A 5: 136,016,119 (GRCm39) T282N 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
IGL02861:Il27 APN 7 126,191,821 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACATTGGGAAGATGGTATCCC -3'
(R):5'- ATGCCAAAGAGACTCAGTGC -3'

Sequencing Primer
(F):5'- ATGGTATCCCAGGGGCAG -3'
(R):5'- AGAGACTCAGTGCTTGTATAGATCG -3'
Posted On 2021-01-18