Incidental Mutation 'RF058:Il2'
| ID |
605322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il2
|
| Ensembl Gene |
ENSMUSG00000027720 |
| Gene Name |
interleukin 2 |
| Synonyms |
IL-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF058 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
37174862-37180103 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
AG to AGGGCTTGAAGTGG
at 37179966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029275]
|
| AlphaFold |
P04351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029275
|
| SMART Domains |
Protein: ENSMUSP00000029275
Gene: ENSMUSG00000027720
| Domain | Start | End | E-Value | Type |
|---|
|
IL2
|
1 |
168 |
4.75e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147773
|
| SMART Domains |
Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deamin
|
1 |
176 |
1.3e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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 secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants develop adult onset autoimmune disease, with 50% mortality by 9 weeks due to hemolytic anemia. Survivors develop inflammatory bowl disease/colitis. Immune system dysregulation and CD4+ T-cell overproduction may be responsible. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,637,826 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CAG |
CAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,864 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
GGC |
GGCTGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
GC |
GCTCCCTC |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,608 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CCGGCTG |
X: 71,313,669 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,787,492 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
TCCTCCTCC |
TC |
9: 21,192,362 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
| Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,406,680 (GRCm39) |
|
probably null |
Het |
| Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,384,490 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
ACCT |
A |
17: 48,666,975 (GRCm39) |
|
probably null |
Het |
| Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,851,244 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Il2
|
APN |
3 |
37,177,156 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02047:Il2
|
APN |
3 |
37,180,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Il2
|
UTSW |
3 |
37,179,975 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Il2
|
UTSW |
3 |
37,179,977 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Il2
|
UTSW |
3 |
37,179,978 (GRCm39) |
unclassified |
probably benign |
|
|
R8805:Il2
|
UTSW |
3 |
37,177,282 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9287:Il2
|
UTSW |
3 |
37,179,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF001:Il2
|
UTSW |
3 |
37,179,911 (GRCm39) |
unclassified |
probably benign |
|
|
RF023:Il2
|
UTSW |
3 |
37,179,969 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Il2
|
UTSW |
3 |
37,179,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Il2
|
UTSW |
3 |
37,179,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
RF036:Il2
|
UTSW |
3 |
37,179,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Il2
|
UTSW |
3 |
37,179,970 (GRCm39) |
nonsense |
probably null |
|
|
RF039:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF041:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF051:Il2
|
UTSW |
3 |
37,179,990 (GRCm39) |
unclassified |
probably benign |
|
|
RF058:Il2
|
UTSW |
3 |
37,179,970 (GRCm39) |
unclassified |
probably benign |
|
|
RF061:Il2
|
UTSW |
3 |
37,179,990 (GRCm39) |
unclassified |
probably benign |
|
|
RF064:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCCTGGGGAGTTTCAG -3'
(R):5'- ACAGTATAAATTGCCTCCCATGCTG -3'
Sequencing Primer
(F):5'- CAGGTTCCTGTAATTCTGAGAAAGCG -3'
(R):5'- ATGCTGAAGAGCTGCCTATC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation