Incidental Mutation 'R5852:Il27'
| ID |
454723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il27
|
| Ensembl Gene |
ENSMUSG00000044701 |
| Gene Name |
interleukin 27 |
| Synonyms |
IL-27, IL-27p28, Il30, p28 |
| MMRRC Submission |
043227-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5852 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126188182-126194113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126191786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 89
(T89S)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000058429
AA Change: T89S
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054637
Gene: ENSMUSG00000044701
AA Change: T89S
| 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 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,139 (GRCm39) |
I453F |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,720 (GRCm39) |
W402* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,134 (GRCm39) |
S134P |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,382,183 (GRCm39) |
V34A |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,377 (GRCm39) |
N65K |
probably damaging |
Het |
| Cntn6 |
G |
T |
6: 104,812,706 (GRCm39) |
V663F |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,536,711 (GRCm39) |
C201* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,344,955 (GRCm39) |
W2100R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,011,290 (GRCm39) |
S3634R |
probably benign |
Het |
| Entrep2 |
T |
A |
7: 64,425,579 (GRCm39) |
H171L |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,865,460 (GRCm39) |
F645L |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 120,106,738 (GRCm39) |
R382L |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,613 (GRCm39) |
I161N |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,640,152 (GRCm39) |
E1566K |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,113,713 (GRCm39) |
V437A |
probably benign |
Het |
| Ncoa6 |
G |
T |
2: 155,247,419 (GRCm39) |
H1962N |
possibly damaging |
Het |
| Nox4 |
C |
T |
7: 86,988,172 (GRCm39) |
T361I |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,544,584 (GRCm39) |
Y1748C |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,369 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,447,632 (GRCm39) |
F2254L |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,935,518 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Pnoc |
C |
T |
14: 65,648,671 (GRCm39) |
V8I |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,408 (GRCm39) |
D256G |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,161,349 (GRCm39) |
F312L |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,339 (GRCm39) |
E239G |
possibly damaging |
Het |
| Tti1 |
A |
G |
2: 157,842,593 (GRCm39) |
L812P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,694,518 (GRCm39) |
S62P |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,346,487 (GRCm39) |
S1659P |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,932,769 (GRCm39) |
V88A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCACCATCTTGCGGTC -3'
(R):5'- GTCCACAGCTTTGTGAGTCTC -3'
Sequencing Primer
(F):5'- GGGATTACAGATGTGTACCACTACC -3'
(R):5'- AGTCTCCTTAGCGCAATTGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation