Incidental Mutation 'R0759:Il1a'
| ID |
69995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1a
|
| Ensembl Gene |
ENSMUSG00000027399 |
| Gene Name |
interleukin 1 alpha |
| Synonyms |
Il-1a |
| MMRRC Submission |
038939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0759 (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 129146607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 162
(D162V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028882]
|
| AlphaFold |
P01582 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028882
AA Change: D162V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028882
Gene: ENSMUSG00000027399
AA Change: D162V
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,454 (GRCm39) |
F504I |
possibly damaging |
Het |
| Amdhd2 |
C |
A |
17: 24,380,587 (GRCm39) |
C119F |
probably benign |
Het |
| Arhgef18 |
T |
G |
8: 3,438,822 (GRCm39) |
|
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,290,652 (GRCm39) |
Y76N |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,508,396 (GRCm39) |
N531S |
probably damaging |
Het |
| Ces1c |
G |
A |
8: 93,857,492 (GRCm39) |
Q30* |
probably null |
Het |
| Cltc |
A |
C |
11: 86,627,908 (GRCm39) |
I80S |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,954 (GRCm39) |
C24Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,707,066 (GRCm39) |
I348V |
probably damaging |
Het |
| Elavl1 |
C |
A |
8: 4,339,815 (GRCm39) |
D256Y |
probably damaging |
Het |
| Fubp1 |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGGCGGCGG |
3: 151,916,274 (GRCm39) |
|
probably benign |
Het |
| Gm43434 |
T |
G |
14: 54,382,952 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,745,162 (GRCm39) |
Y1227H |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,020,927 (GRCm39) |
V501I |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,382,998 (GRCm39) |
I1238T |
possibly damaging |
Het |
| Nr0b2 |
A |
T |
4: 133,281,049 (GRCm39) |
Q105L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,088,707 (GRCm39) |
Y431* |
probably null |
Het |
| Plg |
A |
G |
17: 12,629,838 (GRCm39) |
H624R |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,641 (GRCm39) |
S885P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,135,868 (GRCm39) |
L375P |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,106,768 (GRCm39) |
D347G |
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,188,919 (GRCm39) |
V573E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,714 (GRCm39) |
I400N |
probably damaging |
Het |
| Slurp1 |
A |
G |
15: 74,598,808 (GRCm39) |
F61S |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,860 (GRCm39) |
E231G |
probably benign |
Het |
| Sned1 |
C |
T |
1: 93,200,286 (GRCm39) |
T564M |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,546,236 (GRCm39) |
D334E |
probably benign |
Het |
| Trp53i11 |
A |
G |
2: 93,029,303 (GRCm39) |
T101A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,299,097 (GRCm39) |
N2514D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,475,124 (GRCm39) |
Y634N |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,385 (GRCm39) |
*312Q |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAAGGCACATCAGGAAGCTCTC -3'
(R):5'- AGTACAACCCCAGGTAGGATCAAGC -3'
Sequencing Primer
(F):5'- ACATCAGGAAGCTCTCTGCTC -3'
(R):5'- TAGGCGGTAACCTGAACTTC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation