Incidental Mutation 'R1388:Il1a'
ID |
162480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il1a
|
Ensembl Gene |
ENSMUSG00000027399 |
Gene Name |
interleukin 1 alpha |
Synonyms |
Il-1a |
MMRRC Submission |
039450-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1388 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
129141530-129151892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129148501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 70
(S70G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028882]
|
AlphaFold |
P01582 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028882
AA Change: S70G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000028882 Gene: ENSMUSG00000027399 AA Change: S70G
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
|
Meta Mutation Damage Score |
0.4667 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
Validation Efficiency |
98% (47/48) |
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 |
Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
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'- ACCTTTACATGACCTTTGCAGTATGGC -3'
(R):5'- GCACAATGGGGACCACTCTCACTAAG -3'
Sequencing Primer
(F):5'- GTTTAGAAACAGGCTCCTACTGAC -3'
(R):5'- GGATACAGATCCTACTGAAGAATCTC -3'
|
Posted On |
2014-03-17 |