Incidental Mutation 'IGL01293:Il1rl1'
ID |
72985 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Il1rl1
|
Ensembl Gene |
ENSMUSG00000026069 |
Gene Name |
interleukin 1 receptor-like 1 |
Synonyms |
DER4, Ly84, St2-rs1, St2, T1/ST2, ST2L, ST2, Fit-1, T1, T1 gene |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01293
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
40468730-40504575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40485376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 276
(G276D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053043]
[ENSMUST00000097772]
[ENSMUST00000173514]
[ENSMUST00000173881]
[ENSMUST00000174335]
|
AlphaFold |
P14719 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053043
AA Change: G276D
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000054914 Gene: ENSMUSG00000026069 AA Change: G276D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
IG_like
|
225 |
326 |
2.66e1 |
SMART |
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
TIR
|
381 |
543 |
4.23e-35 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097772
AA Change: G276D
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000095379 Gene: ENSMUSG00000026069 AA Change: G276D
Domain | Start | End | E-Value | Type |
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
IG_like
|
225 |
326 |
2.66e1 |
SMART |
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
TIR
|
381 |
543 |
4.23e-35 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173514
AA Change: G276D
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133784 Gene: ENSMUSG00000026069 AA Change: G276D
Domain | Start | End | E-Value | Type |
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173881
|
SMART Domains |
Protein: ENSMUSP00000134225 Gene: ENSMUSG00000026069
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
PDB:4KC3|B
|
27 |
65 |
4e-16 |
PDB |
Blast:IGc2
|
33 |
65 |
2e-17 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174335
AA Change: G276D
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134351 Gene: ENSMUSG00000026069 AA Change: G276D
Domain | Start | End | E-Value | Type |
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
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 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,190,226 (GRCm39) |
V25A |
probably benign |
Het |
Aadacl4fm5 |
G |
T |
4: 144,504,159 (GRCm39) |
H331N |
probably benign |
Het |
Aagab |
T |
C |
9: 63,543,751 (GRCm39) |
V235A |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,890,836 (GRCm39) |
V905A |
probably benign |
Het |
Atrx |
A |
G |
X: 104,919,801 (GRCm39) |
S641P |
probably benign |
Het |
Bnc1 |
T |
C |
7: 81,624,237 (GRCm39) |
E330G |
probably damaging |
Het |
Cenpq |
A |
T |
17: 41,244,067 (GRCm39) |
S4T |
possibly damaging |
Het |
Clvs1 |
T |
A |
4: 9,281,559 (GRCm39) |
M1K |
probably null |
Het |
Cul2 |
A |
G |
18: 3,419,426 (GRCm39) |
K196E |
probably damaging |
Het |
Cyp2d10 |
A |
T |
15: 82,287,210 (GRCm39) |
V471E |
possibly damaging |
Het |
Efhc2 |
T |
A |
X: 17,073,934 (GRCm39) |
I469L |
probably benign |
Het |
Fhod3 |
C |
T |
18: 25,153,709 (GRCm39) |
|
probably benign |
Het |
Gm1968 |
A |
G |
16: 29,777,632 (GRCm39) |
|
noncoding transcript |
Het |
Hpdl |
T |
A |
4: 116,678,141 (GRCm39) |
T107S |
possibly damaging |
Het |
Irgq |
A |
G |
7: 24,233,149 (GRCm39) |
D330G |
probably damaging |
Het |
Kdm4b |
A |
G |
17: 56,660,019 (GRCm39) |
D62G |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,107,632 (GRCm39) |
T793A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,610,340 (GRCm39) |
F691L |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,365,104 (GRCm39) |
G1654E |
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,224,086 (GRCm39) |
Y100F |
probably benign |
Het |
Ncapg |
A |
G |
5: 45,839,196 (GRCm39) |
N532S |
probably benign |
Het |
Nfkb1 |
T |
C |
3: 135,296,600 (GRCm39) |
D782G |
probably damaging |
Het |
Nthl1 |
G |
T |
17: 24,857,683 (GRCm39) |
C294F |
probably damaging |
Het |
Obp2b |
A |
G |
2: 25,627,719 (GRCm39) |
H45R |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,104,715 (GRCm39) |
E156G |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,886,308 (GRCm39) |
I2T |
probably benign |
Het |
Or7g29 |
C |
A |
9: 19,286,632 (GRCm39) |
A182S |
probably benign |
Het |
Otud6b |
A |
G |
4: 14,822,682 (GRCm39) |
|
probably benign |
Het |
Patl2 |
T |
C |
2: 121,954,291 (GRCm39) |
T427A |
probably benign |
Het |
Pdzd8 |
T |
A |
19: 59,288,218 (GRCm39) |
R1061W |
probably damaging |
Het |
Plk3 |
A |
T |
4: 116,990,194 (GRCm39) |
L137* |
probably null |
Het |
Rps6ka6 |
T |
C |
X: 110,360,059 (GRCm39) |
|
probably benign |
Het |
Shank1 |
T |
C |
7: 44,003,660 (GRCm39) |
V1784A |
possibly damaging |
Het |
Smc1b |
A |
T |
15: 85,016,099 (GRCm39) |
S14T |
probably damaging |
Het |
Sox4 |
C |
A |
13: 29,136,664 (GRCm39) |
R114L |
probably damaging |
Het |
Speg |
C |
T |
1: 75,364,746 (GRCm39) |
R221W |
probably damaging |
Het |
Tram1l1 |
T |
C |
3: 124,115,788 (GRCm39) |
V316A |
probably benign |
Het |
Virma |
G |
T |
4: 11,521,114 (GRCm39) |
K840N |
probably damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,394 (GRCm39) |
S203T |
probably damaging |
Het |
Wdr1 |
T |
C |
5: 38,686,886 (GRCm39) |
T293A |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,345,528 (GRCm39) |
P2590S |
possibly damaging |
Het |
Zfp106 |
T |
C |
2: 120,365,516 (GRCm39) |
Y297C |
possibly damaging |
Het |
Zfp128 |
A |
G |
7: 12,625,351 (GRCm39) |
*573W |
probably null |
Het |
Zfp575 |
G |
A |
7: 24,285,182 (GRCm39) |
P153L |
probably damaging |
Het |
|
Other mutations in Il1rl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01413:Il1rl1
|
APN |
1 |
40,485,329 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01939:Il1rl1
|
APN |
1 |
40,501,168 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02121:Il1rl1
|
APN |
1 |
40,481,463 (GRCm39) |
splice site |
probably benign |
|
IGL02160:Il1rl1
|
APN |
1 |
40,500,997 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02695:Il1rl1
|
APN |
1 |
40,485,718 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0007:Il1rl1
|
UTSW |
1 |
40,485,331 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0105:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
R0200:Il1rl1
|
UTSW |
1 |
40,480,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0363:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
R0508:Il1rl1
|
UTSW |
1 |
40,490,877 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0637:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
R0676:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
R1371:Il1rl1
|
UTSW |
1 |
40,481,873 (GRCm39) |
missense |
probably damaging |
0.96 |
R2074:Il1rl1
|
UTSW |
1 |
40,501,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R2309:Il1rl1
|
UTSW |
1 |
40,481,817 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2426:Il1rl1
|
UTSW |
1 |
40,485,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R3983:Il1rl1
|
UTSW |
1 |
40,485,823 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4601:Il1rl1
|
UTSW |
1 |
40,480,460 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4707:Il1rl1
|
UTSW |
1 |
40,489,348 (GRCm39) |
missense |
probably damaging |
0.96 |
R4720:Il1rl1
|
UTSW |
1 |
40,485,838 (GRCm39) |
missense |
probably benign |
0.24 |
R4784:Il1rl1
|
UTSW |
1 |
40,489,348 (GRCm39) |
missense |
probably damaging |
0.96 |
R5137:Il1rl1
|
UTSW |
1 |
40,489,285 (GRCm39) |
missense |
probably benign |
|
R5765:Il1rl1
|
UTSW |
1 |
40,501,103 (GRCm39) |
missense |
probably benign |
0.06 |
R5953:Il1rl1
|
UTSW |
1 |
40,481,833 (GRCm39) |
missense |
probably benign |
0.05 |
R6339:Il1rl1
|
UTSW |
1 |
40,501,016 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7176:Il1rl1
|
UTSW |
1 |
40,485,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R7677:Il1rl1
|
UTSW |
1 |
40,485,864 (GRCm39) |
makesense |
probably null |
|
R8129:Il1rl1
|
UTSW |
1 |
40,490,987 (GRCm39) |
missense |
probably damaging |
0.98 |
R8670:Il1rl1
|
UTSW |
1 |
40,480,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |