Incidental Mutation 'IGL01663:Il1a'
| ID |
103238 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il1a
|
| Ensembl Gene |
ENSMUSG00000027399 |
| Gene Name |
interleukin 1 alpha |
| Synonyms |
Il-1a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
129141530-129151892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129146637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 152
(K152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028882]
|
| AlphaFold |
P01582 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028882
AA Change: K152R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028882
Gene: ENSMUSG00000027399
AA Change: K152R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL1_propep
|
1 |
111 |
2.2e-38 |
PFAM |
|
IL1
|
131 |
270 |
8.14e-70 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144178
|
| 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 member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal tumor vascularization, decreased metastatic potential, and decreased interleukin-1 beta secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,168,628 (GRCm39) |
I1085V |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,941,260 (GRCm39) |
T376A |
probably benign |
Het |
| Aifm3 |
T |
A |
16: 17,320,650 (GRCm39) |
|
probably null |
Het |
| Ankrd16 |
A |
G |
2: 11,783,473 (GRCm39) |
E25G |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
T |
C |
15: 23,446,077 (GRCm39) |
I509T |
possibly damaging |
Het |
| Cdon |
A |
G |
9: 35,394,510 (GRCm39) |
T919A |
possibly damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,522,916 (GRCm39) |
P148L |
probably damaging |
Het |
| Dnph1 |
G |
T |
17: 46,809,408 (GRCm39) |
R74L |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,596,007 (GRCm39) |
A895T |
probably damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,395,845 (GRCm39) |
|
probably benign |
Het |
| Fbll1 |
A |
G |
11: 35,688,648 (GRCm39) |
I205T |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,424,434 (GRCm39) |
H3001L |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,825,099 (GRCm39) |
N432D |
probably benign |
Het |
| Gm7535 |
A |
C |
17: 18,131,619 (GRCm39) |
|
probably benign |
Het |
| Il10 |
A |
G |
1: 130,949,151 (GRCm39) |
E104G |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,227,213 (GRCm39) |
N568K |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,668 (GRCm39) |
L2725R |
probably damaging |
Het |
| Krba1 |
G |
T |
6: 48,388,688 (GRCm39) |
L527F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,259,050 (GRCm39) |
S4547P |
probably benign |
Het |
| Nin |
G |
T |
12: 70,090,439 (GRCm39) |
A992E |
possibly damaging |
Het |
| Or11g7 |
G |
A |
14: 50,690,607 (GRCm39) |
V33M |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,098 (GRCm39) |
H158Q |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,186 (GRCm39) |
I712M |
possibly damaging |
Het |
| Prmt2 |
C |
T |
10: 76,053,143 (GRCm39) |
|
probably null |
Het |
| Rbm20 |
T |
G |
19: 53,829,426 (GRCm39) |
V608G |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,324,846 (GRCm39) |
|
probably benign |
Het |
| Speer3 |
A |
T |
5: 13,843,236 (GRCm39) |
R48* |
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,082,416 (GRCm39) |
N720K |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,398,702 (GRCm39) |
M603L |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,210,590 (GRCm39) |
|
probably null |
Het |
| Usp4 |
C |
A |
9: 108,243,079 (GRCm39) |
A249E |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,759,948 (GRCm39) |
V278E |
probably damaging |
Het |
|
| Other mutations in Il1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Il1a
|
APN |
2 |
129,146,640 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02451:Il1a
|
APN |
2 |
129,148,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02537:Il1a
|
APN |
2 |
129,150,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0009:Il1a
|
UTSW |
2 |
129,150,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0009:Il1a
|
UTSW |
2 |
129,150,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0759:Il1a
|
UTSW |
2 |
129,146,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1388:Il1a
|
UTSW |
2 |
129,148,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1521:Il1a
|
UTSW |
2 |
129,146,661 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1699:Il1a
|
UTSW |
2 |
129,144,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3833:Il1a
|
UTSW |
2 |
129,148,599 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4591:Il1a
|
UTSW |
2 |
129,148,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:Il1a
|
UTSW |
2 |
129,146,623 (GRCm39) |
missense |
probably benign |
|
|
R5433:Il1a
|
UTSW |
2 |
129,149,821 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5572:Il1a
|
UTSW |
2 |
129,149,838 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7345:Il1a
|
UTSW |
2 |
129,146,693 (GRCm39) |
missense |
probably benign |
|
|
R7876:Il1a
|
UTSW |
2 |
129,142,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Il1a
|
UTSW |
2 |
129,144,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Il1a
|
UTSW |
2 |
129,148,477 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8248:Il1a
|
UTSW |
2 |
129,144,881 (GRCm39) |
missense |
probably benign |
|
|
R9048:Il1a
|
UTSW |
2 |
129,148,441 (GRCm39) |
missense |
probably benign |
|
|
R9127:Il1a
|
UTSW |
2 |
129,146,715 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9320:Il1a
|
UTSW |
2 |
129,142,654 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9323:Il1a
|
UTSW |
2 |
129,149,826 (GRCm39) |
missense |
probably benign |
0.24 |
|
RF003:Il1a
|
UTSW |
2 |
129,144,852 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2014-01-21 |
Incidental Mutation