Incidental Mutation 'IGL02077:Il27'
ID |
186017 |
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)
|
Stock # |
IGL02077
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
126188182-126194113 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 126194051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058429]
[ENSMUST00000058429]
|
AlphaFold |
Q8K3I6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058429
|
SMART Domains |
Protein: ENSMUSP00000054637 Gene: ENSMUSG00000044701
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000058429
|
SMART Domains |
Protein: ENSMUSP00000054637 Gene: ENSMUSG00000044701
Domain | Start | End | E-Value | Type |
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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap11a |
G |
T |
2: 113,667,816 (GRCm39) |
T395K |
possibly damaging |
Het |
Dop1b |
T |
C |
16: 93,577,648 (GRCm39) |
S58P |
probably damaging |
Het |
F5 |
T |
A |
1: 164,026,435 (GRCm39) |
V1669E |
probably damaging |
Het |
Fndc7 |
T |
A |
3: 108,790,784 (GRCm39) |
T81S |
probably benign |
Het |
Hnf4a |
G |
T |
2: 163,404,527 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,558 (GRCm39) |
T311I |
probably benign |
Het |
Mafb |
A |
G |
2: 160,207,687 (GRCm39) |
S304P |
probably benign |
Het |
Mfrp |
C |
T |
9: 44,016,517 (GRCm39) |
T404M |
probably damaging |
Het |
Ntpcr |
T |
A |
8: 126,464,107 (GRCm39) |
Y77* |
probably null |
Het |
Otof |
A |
G |
5: 30,556,579 (GRCm39) |
S301P |
probably damaging |
Het |
Prpf6 |
G |
A |
2: 181,282,457 (GRCm39) |
G533R |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,386,635 (GRCm39) |
H1041Q |
probably damaging |
Het |
Pyurf |
T |
C |
6: 57,666,820 (GRCm39) |
I81V |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,012,320 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
T |
18: 47,416,465 (GRCm39) |
D387E |
possibly damaging |
Het |
Serpinb3a |
T |
G |
1: 106,974,111 (GRCm39) |
T267P |
probably damaging |
Het |
Tgm7 |
A |
T |
2: 120,934,316 (GRCm39) |
M192K |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,943,591 (GRCm39) |
V70L |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,744,419 (GRCm39) |
I769N |
probably damaging |
Het |
Tlr9 |
A |
G |
9: 106,102,704 (GRCm39) |
Y665C |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,600,506 (GRCm39) |
D18928G |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,215,875 (GRCm39) |
S131P |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,564,875 (GRCm39) |
N854S |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,910,759 (GRCm39) |
T3508A |
possibly damaging |
Het |
Wdr43 |
G |
A |
17: 71,947,286 (GRCm39) |
A381T |
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,323,169 (GRCm39) |
M859K |
possibly damaging |
Het |
|
Other mutations in Il27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00895:Il27
|
APN |
7 |
126,188,555 (GRCm39) |
missense |
probably benign |
0.25 |
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 |
2014-05-07 |