Incidental Mutation 'IGL00895:Il27'
ID 27750
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 # IGL00895
Quality Score
Status
Chromosome 7
Chromosomal Location 126188182-126194113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126188555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 206 (H206R)
Ref Sequence ENSEMBL: ENSMUSP00000054637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039522] [ENSMUST00000058429] [ENSMUST00000084589] [ENSMUST00000131860] [ENSMUST00000137646] [ENSMUST00000138558] [ENSMUST00000144173] [ENSMUST00000150311]
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 benign
Transcript: ENSMUST00000058429
AA Change: H206R

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000054637
Gene: ENSMUSG00000044701
AA Change: H206R

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: ENSMUST00000084589
SMART Domains Protein: ENSMUSP00000081636
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 37 438 3.5e-215 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128049
Predicted Effect probably benign
Transcript: ENSMUST00000131860
Predicted Effect probably benign
Transcript: ENSMUST00000137646
Predicted Effect probably benign
Transcript: ENSMUST00000138558
Predicted Effect probably benign
Transcript: ENSMUST00000144173
Predicted Effect probably benign
Transcript: ENSMUST00000150311
SMART Domains Protein: ENSMUSP00000116160
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 37 69 1.5e-14 PFAM
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,092,936 (GRCm39) W154R probably damaging Het
Ccnc T A 4: 21,742,642 (GRCm39) Y156* probably null Het
Clca3a1 A C 3: 144,730,357 (GRCm39) W163G probably damaging Het
Cntnap5b C T 1: 100,311,310 (GRCm39) T972I probably damaging Het
Cpn2 C T 16: 30,079,338 (GRCm39) S121N probably benign Het
Dcc T C 18: 71,943,871 (GRCm39) E260G probably damaging Het
Dnah6 A T 6: 73,133,333 (GRCm39) N1091K possibly damaging Het
Dpp9 G T 17: 56,512,240 (GRCm39) F249L probably damaging Het
Dscaml1 A G 9: 45,662,551 (GRCm39) D1839G probably damaging Het
Esr1 C T 10: 4,997,890 (GRCm38) R481L probably benign Het
Frem2 G T 3: 53,493,016 (GRCm39) D1833E probably damaging Het
Ftdc2 A T 16: 58,458,059 (GRCm39) Y81N probably benign Het
Ica1 T C 6: 8,653,514 (GRCm39) D343G probably benign Het
Med14 A G X: 12,547,039 (GRCm39) V723A probably damaging Het
Msh3 C A 13: 92,481,472 (GRCm39) G347C probably damaging Het
Nfasc T A 1: 132,501,536 (GRCm39) K1262* probably null Het
Nlrp9a A T 7: 26,258,103 (GRCm39) M485L probably benign Het
Or4c111 A G 2: 88,843,953 (GRCm39) F152L probably benign Het
Or4f60 A G 2: 111,902,100 (GRCm39) V276A probably damaging Het
Pcdhb5 T G 18: 37,454,036 (GRCm39) L139V probably benign Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Scn5a G T 9: 119,342,170 (GRCm39) probably null Het
Senp7 G T 16: 55,902,740 (GRCm39) R21L probably damaging Het
Ssb G A 2: 69,696,606 (GRCm39) V47I probably benign Het
Ttll8 T A 15: 88,817,731 (GRCm39) S221C probably damaging Het
Other mutations in Il27
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17