Incidental Mutation 'IGL00496:Il17a'
| ID |
7523 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il17a
|
| Ensembl Gene |
ENSMUSG00000025929 |
| Gene Name |
interleukin 17A |
| Synonyms |
IL-17A, Il17, Ctla-8, Ctla8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
20801129-20804720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20802507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 72
(R72H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027061]
|
| AlphaFold |
Q62386 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027061
AA Change: R72H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027061
Gene: ENSMUSG00000025929
AA Change: R72H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:IL17
|
72 |
150 |
3.9e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a pro-inflammatory cytokine that is a member of the interleukin-17 family. The encoded protein plays a central role in host defense against diverse pathogens. The encoded protein is produced by activated T-cells and certain cell types of innate immune system. The active protein functions as either a homodimer with other interleukin-17 family members and signals through the interleukin-17 receptor to induce inflammatory cytokine production. Aberrant expression of this gene is associated with autoinflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced contact, delayed-type and airway hypersensitivity responses and impaired T-dependent antibody production. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted(7)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,960,400 (GRCm39) |
V14M |
possibly damaging |
Het |
| Adgrg6 |
C |
A |
10: 14,326,322 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,813,988 (GRCm39) |
L397P |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,687,100 (GRCm39) |
K232E |
probably damaging |
Het |
| Cnfn |
G |
T |
7: 25,067,385 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,452,371 (GRCm39) |
T52A |
probably benign |
Het |
| Daw1 |
A |
C |
1: 83,174,957 (GRCm39) |
L152F |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,087,211 (GRCm39) |
I98K |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,512 (GRCm39) |
Q744R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 78,999,221 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,083 (GRCm39) |
T387A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,336,546 (GRCm39) |
I1057F |
possibly damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,544 (GRCm39) |
D263G |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,090,591 (GRCm39) |
V322E |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,995,911 (GRCm39) |
|
probably null |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,773 (GRCm39) |
I59T |
possibly damaging |
Het |
| Pradc1 |
A |
G |
6: 85,424,948 (GRCm39) |
|
probably null |
Het |
| Psmd14 |
A |
G |
2: 61,591,026 (GRCm39) |
Y32C |
probably damaging |
Het |
| Rrp12 |
A |
C |
19: 41,866,466 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
A |
T |
17: 3,221,409 (GRCm39) |
I299F |
unknown |
Het |
| Selenoo |
A |
G |
15: 88,979,875 (GRCm39) |
D341G |
probably damaging |
Het |
| Slc1a6 |
C |
A |
10: 78,629,142 (GRCm39) |
N186K |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,298,924 (GRCm39) |
S102R |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,217,430 (GRCm39) |
V423E |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,069,001 (GRCm39) |
C2928W |
possibly damaging |
Het |
| Tmed9 |
T |
C |
13: 55,741,334 (GRCm39) |
Y43H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,091 (GRCm39) |
T24855A |
possibly damaging |
Het |
| Usp7 |
A |
G |
16: 8,512,977 (GRCm39) |
V795A |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,112,614 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il17a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Il17a
|
APN |
1 |
20,803,864 (GRCm39) |
missense |
probably benign |
0.03 |
|
seventeenager
|
UTSW |
1 |
20,803,870 (GRCm39) |
nonsense |
probably null |
|
|
R0057:Il17a
|
UTSW |
1 |
20,803,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Il17a
|
UTSW |
1 |
20,801,217 (GRCm39) |
splice site |
probably null |
|
|
R5436:Il17a
|
UTSW |
1 |
20,803,870 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Il17a
|
UTSW |
1 |
20,803,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5932:Il17a
|
UTSW |
1 |
20,803,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6104:Il17a
|
UTSW |
1 |
20,802,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Il17a
|
UTSW |
1 |
20,802,327 (GRCm39) |
missense |
probably benign |
|
|
R7838:Il17a
|
UTSW |
1 |
20,802,351 (GRCm39) |
missense |
probably benign |
|
|
R7989:Il17a
|
UTSW |
1 |
20,802,438 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2012-04-20 |
Incidental Mutation