Incidental Mutation 'IGL01979:Il20'
| ID |
181812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il20
|
| Ensembl Gene |
ENSMUSG00000026416 |
| Gene Name |
interleukin 20 |
| Synonyms |
Zcyto10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
130834722-130839033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130838839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 42
(I42K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027673]
[ENSMUST00000188581]
|
| AlphaFold |
Q9JKV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027673
AA Change: I42K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027673
Gene: ENSMUSG00000026416
AA Change: I42K
| Domain | Start | End | E-Value | Type |
|---|
|
IL10
|
35 |
176 |
3.89e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188581
AA Change: I42K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141088
Gene: ENSMUSG00000026416
AA Change: I42K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL10
|
35 |
154 |
1.9e-8 |
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 a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show an increased inflammatory response in contact hypersensitivity assays. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
| Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
| Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,304,433 (GRCm39) |
D383G |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,789,649 (GRCm39) |
S26I |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
| Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
| Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
| Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
| Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,168,593 (GRCm39) |
Y132C |
probably damaging |
Het |
| Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,648,255 (GRCm39) |
S285A |
possibly damaging |
Het |
| Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,426,400 (GRCm39) |
Q555L |
probably benign |
Het |
|
| Other mutations in Il20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02297:Il20
|
APN |
1 |
130,836,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02322:Il20
|
APN |
1 |
130,837,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Il20
|
UTSW |
1 |
130,837,476 (GRCm39) |
splice site |
probably benign |
|
|
R0885:Il20
|
UTSW |
1 |
130,838,518 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1659:Il20
|
UTSW |
1 |
130,836,086 (GRCm39) |
splice site |
probably null |
|
|
R2037:Il20
|
UTSW |
1 |
130,836,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2199:Il20
|
UTSW |
1 |
130,838,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5632:Il20
|
UTSW |
1 |
130,835,165 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6039:Il20
|
UTSW |
1 |
130,838,478 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6039:Il20
|
UTSW |
1 |
130,838,478 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6155:Il20
|
UTSW |
1 |
130,838,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6340:Il20
|
UTSW |
1 |
130,836,118 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8675:Il20
|
UTSW |
1 |
130,835,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Il20
|
UTSW |
1 |
130,839,124 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation