Incidental Mutation 'R4643:Il1a'
ID |
351714 |
Institutional Source |
Beutler Lab
|
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 # |
R4643 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
129141530-129151892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129146623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 157
(T157S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028882]
|
AlphaFold |
P01582 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028882
AA Change: T157S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028882 Gene: ENSMUSG00000027399 AA Change: T157S
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 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 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
Het |
|
Other mutations in Il1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01663:Il1a
|
APN |
2 |
129,146,637 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGAGCTGTCTTTTGGAACAC -3'
(R):5'- GGCGGTAACCTGAACTTCTG -3'
Sequencing Primer
(F):5'- GAACACATATTCTGTCCTTTGCAGGG -3'
(R):5'- CTGGTAATGATTTTAGAGACCATCC -3'
|
Posted On |
2015-10-08 |