Incidental Mutation 'IGL02447:Il18r1'
ID |
294058 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Il18r1
|
Ensembl Gene |
ENSMUSG00000026070 |
Gene Name |
interleukin 18 receptor 1 |
Synonyms |
Il1rrp, Il18ralpha |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02447
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
G to A
at 40537497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087983]
[ENSMUST00000108044]
[ENSMUST00000195684]
|
AlphaFold |
Q61098 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087983
|
SMART Domains |
Protein: ENSMUSP00000085298 Gene: ENSMUSG00000026070
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108044
|
SMART Domains |
Protein: ENSMUSP00000103679 Gene: ENSMUSG00000026070
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000195684
|
SMART Domains |
Protein: ENSMUSP00000142070 Gene: ENSMUSG00000026070
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
113 |
8.93e-1 |
SMART |
IG_like
|
126 |
204 |
7.06e0 |
SMART |
IG
|
219 |
315 |
3.63e0 |
SMART |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
TIR
|
371 |
519 |
3.8e-37 |
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 cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for disruptions in this gene exhibit impaire Th1 cell development and defective NK cell physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
A |
4: 144,401,269 (GRCm39) |
I72F |
probably benign |
Het |
Abhd18 |
T |
A |
3: 40,888,208 (GRCm39) |
F351I |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,859,944 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
C |
T |
5: 98,178,267 (GRCm39) |
V48I |
possibly damaging |
Het |
Bcl9l |
T |
C |
9: 44,418,631 (GRCm39) |
M823T |
probably benign |
Het |
Card11 |
G |
A |
5: 140,892,679 (GRCm39) |
H129Y |
possibly damaging |
Het |
Ccr1 |
A |
T |
9: 123,763,753 (GRCm39) |
V259E |
probably benign |
Het |
Cdk13 |
G |
T |
13: 17,947,001 (GRCm39) |
P586T |
probably benign |
Het |
Cep295 |
C |
T |
9: 15,243,807 (GRCm39) |
V1502I |
probably damaging |
Het |
Csnk1g3 |
T |
C |
18: 54,028,942 (GRCm39) |
S32P |
probably benign |
Het |
Dpysl4 |
G |
A |
7: 138,678,516 (GRCm39) |
R492Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,127,949 (GRCm39) |
L78P |
probably damaging |
Het |
Gm7361 |
T |
C |
5: 26,462,853 (GRCm39) |
S32P |
probably benign |
Het |
Grip1 |
T |
A |
10: 119,855,976 (GRCm39) |
V234E |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,404,610 (GRCm39) |
I4477L |
possibly damaging |
Het |
Itpkb |
A |
G |
1: 180,248,919 (GRCm39) |
|
probably benign |
Het |
Jag2 |
T |
C |
12: 112,876,232 (GRCm39) |
Y799C |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,277,014 (GRCm39) |
K857R |
probably damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
Kcnc2 |
T |
G |
10: 112,291,851 (GRCm39) |
D346E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 191,907,224 (GRCm39) |
M92K |
possibly damaging |
Het |
Kcnk1 |
A |
G |
8: 126,751,819 (GRCm39) |
I142V |
probably damaging |
Het |
Lsm11 |
T |
C |
11: 45,828,191 (GRCm39) |
N196D |
probably damaging |
Het |
Mpeg1 |
G |
T |
19: 12,440,156 (GRCm39) |
C538F |
probably damaging |
Het |
Nrap |
G |
A |
19: 56,333,951 (GRCm39) |
Q969* |
probably null |
Het |
Nt5el |
A |
T |
13: 105,236,967 (GRCm39) |
S73C |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,204,511 (GRCm39) |
|
probably null |
Het |
Pdcd5 |
A |
G |
7: 35,342,110 (GRCm39) |
V166A |
possibly damaging |
Het |
Plcb2 |
A |
T |
2: 118,543,636 (GRCm39) |
I745N |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,120,027 (GRCm39) |
T147A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,676,460 (GRCm39) |
D136V |
probably damaging |
Het |
Ripor3 |
G |
T |
2: 167,834,750 (GRCm39) |
T247N |
probably damaging |
Het |
Sgcd |
A |
C |
11: 46,870,082 (GRCm39) |
|
probably benign |
Het |
Slc26a6 |
T |
C |
9: 108,734,251 (GRCm39) |
Y211H |
probably benign |
Het |
Slc37a3 |
T |
A |
6: 39,314,129 (GRCm39) |
E494D |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,234,856 (GRCm39) |
E326G |
probably benign |
Het |
Tctn2 |
T |
C |
5: 124,753,316 (GRCm39) |
|
noncoding transcript |
Het |
Tk2 |
T |
A |
8: 104,967,770 (GRCm39) |
N93I |
probably damaging |
Het |
Tmed6 |
A |
G |
8: 107,792,240 (GRCm39) |
F2L |
possibly damaging |
Het |
Tox3 |
A |
G |
8: 90,984,781 (GRCm39) |
|
probably benign |
Het |
Tspan9 |
T |
C |
6: 127,941,401 (GRCm39) |
Y237C |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,797,856 (GRCm39) |
L547P |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,189,223 (GRCm39) |
D1421G |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,542,703 (GRCm39) |
I319K |
possibly damaging |
Het |
Vac14 |
A |
G |
8: 111,380,260 (GRCm39) |
D441G |
probably benign |
Het |
Vamp8 |
C |
T |
6: 72,365,316 (GRCm39) |
V5M |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,429 (GRCm39) |
H560Q |
probably benign |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp773 |
G |
T |
7: 7,139,655 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Il18r1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Il18r1
|
APN |
1 |
40,537,812 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL00742:Il18r1
|
APN |
1 |
40,520,151 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01448:Il18r1
|
APN |
1 |
40,513,890 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01726:Il18r1
|
APN |
1 |
40,537,563 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02081:Il18r1
|
APN |
1 |
40,537,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02425:Il18r1
|
APN |
1 |
40,530,381 (GRCm39) |
splice site |
probably benign |
|
IGL02529:Il18r1
|
APN |
1 |
40,526,219 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02863:Il18r1
|
APN |
1 |
40,526,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02928:Il18r1
|
APN |
1 |
40,517,711 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02941:Il18r1
|
APN |
1 |
40,537,711 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03156:Il18r1
|
APN |
1 |
40,537,528 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0532:Il18r1
|
UTSW |
1 |
40,514,061 (GRCm39) |
missense |
probably damaging |
0.97 |
R0926:Il18r1
|
UTSW |
1 |
40,526,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Il18r1
|
UTSW |
1 |
40,514,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:Il18r1
|
UTSW |
1 |
40,530,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2254:Il18r1
|
UTSW |
1 |
40,530,380 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2860:Il18r1
|
UTSW |
1 |
40,537,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2861:Il18r1
|
UTSW |
1 |
40,537,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2862:Il18r1
|
UTSW |
1 |
40,537,717 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3412:Il18r1
|
UTSW |
1 |
40,530,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R3432:Il18r1
|
UTSW |
1 |
40,526,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R3718:Il18r1
|
UTSW |
1 |
40,534,948 (GRCm39) |
missense |
probably benign |
0.00 |
R3816:Il18r1
|
UTSW |
1 |
40,526,132 (GRCm39) |
splice site |
probably benign |
|
R3894:Il18r1
|
UTSW |
1 |
40,514,034 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4061:Il18r1
|
UTSW |
1 |
40,514,096 (GRCm39) |
missense |
probably benign |
0.33 |
R4062:Il18r1
|
UTSW |
1 |
40,514,096 (GRCm39) |
missense |
probably benign |
0.33 |
R4381:Il18r1
|
UTSW |
1 |
40,510,950 (GRCm39) |
missense |
probably benign |
0.00 |
R4972:Il18r1
|
UTSW |
1 |
40,530,224 (GRCm39) |
missense |
probably benign |
0.39 |
R5059:Il18r1
|
UTSW |
1 |
40,520,227 (GRCm39) |
critical splice donor site |
probably null |
|
R6229:Il18r1
|
UTSW |
1 |
40,513,923 (GRCm39) |
missense |
probably benign |
0.02 |
R6458:Il18r1
|
UTSW |
1 |
40,530,342 (GRCm39) |
nonsense |
probably null |
|
R6505:Il18r1
|
UTSW |
1 |
40,528,867 (GRCm39) |
missense |
probably benign |
|
R6738:Il18r1
|
UTSW |
1 |
40,537,816 (GRCm39) |
missense |
probably benign |
0.06 |
R7002:Il18r1
|
UTSW |
1 |
40,514,013 (GRCm39) |
missense |
probably benign |
0.39 |
R7317:Il18r1
|
UTSW |
1 |
40,513,992 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7485:Il18r1
|
UTSW |
1 |
40,520,140 (GRCm39) |
missense |
probably benign |
0.01 |
R7510:Il18r1
|
UTSW |
1 |
40,514,035 (GRCm39) |
missense |
probably benign |
0.03 |
R7515:Il18r1
|
UTSW |
1 |
40,537,830 (GRCm39) |
missense |
not run |
|
R7526:Il18r1
|
UTSW |
1 |
40,510,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R7793:Il18r1
|
UTSW |
1 |
40,510,924 (GRCm39) |
missense |
probably benign |
0.01 |
R7870:Il18r1
|
UTSW |
1 |
40,530,296 (GRCm39) |
missense |
probably benign |
0.45 |
R8004:Il18r1
|
UTSW |
1 |
40,513,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8063:Il18r1
|
UTSW |
1 |
40,526,198 (GRCm39) |
missense |
probably benign |
0.10 |
R8836:Il18r1
|
UTSW |
1 |
40,535,016 (GRCm39) |
missense |
probably benign |
0.15 |
R9304:Il18r1
|
UTSW |
1 |
40,510,893 (GRCm39) |
start gained |
probably benign |
|
R9502:Il18r1
|
UTSW |
1 |
40,528,852 (GRCm39) |
missense |
probably benign |
0.01 |
R9507:Il18r1
|
UTSW |
1 |
40,513,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R9559:Il18r1
|
UTSW |
1 |
40,528,793 (GRCm39) |
missense |
probably benign |
0.01 |
X0023:Il18r1
|
UTSW |
1 |
40,510,921 (GRCm39) |
missense |
probably benign |
0.04 |
X0064:Il18r1
|
UTSW |
1 |
40,534,873 (GRCm39) |
splice site |
probably null |
|
Z1088:Il18r1
|
UTSW |
1 |
40,517,646 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Il18r1
|
UTSW |
1 |
40,513,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |