Incidental Mutation 'IGL02425:Il18r1'
| ID |
292887 |
| 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 # |
IGL02425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 40530381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087983]
[ENSMUST00000108044]
[ENSMUST00000167723]
[ENSMUST00000193391]
[ENSMUST00000193793]
[ENSMUST00000195684]
|
| AlphaFold |
Q61098 |
| Predicted Effect |
probably benign
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 benign
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 |
silent
Transcript: ENSMUST00000167723
|
| SMART Domains |
Protein: ENSMUSP00000128277
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 |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000193391
|
| SMART Domains |
Protein: ENSMUSP00000141695
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193793
|
| SMART Domains |
Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
3.7e-3 |
SMART |
|
IG_like
|
132 |
189 |
9.7e-3 |
SMART |
|
Pfam:Ig_2
|
214 |
263 |
5.2e-1 |
PFAM |
|
| Predicted Effect |
probably benign
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8430423G03Rik |
A |
G |
5: 148,887,472 (GRCm39) |
|
probably benign |
Het |
| Adam4 |
C |
T |
12: 81,468,102 (GRCm39) |
R173H |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,306,034 (GRCm39) |
E948G |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,323,749 (GRCm39) |
Y184C |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,854,316 (GRCm39) |
V761A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,749,645 (GRCm39) |
F480L |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,119,380 (GRCm39) |
T714A |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,746,390 (GRCm39) |
I263T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,480 (GRCm39) |
V219I |
probably benign |
Het |
| Dsn1 |
A |
G |
2: 156,838,667 (GRCm39) |
V316A |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,950,813 (GRCm39) |
F80L |
probably benign |
Het |
| Fam221b |
A |
G |
4: 43,660,642 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
G |
A |
10: 93,910,064 (GRCm39) |
G790R |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,680,302 (GRCm39) |
|
probably benign |
Het |
| Gldn |
T |
A |
9: 54,246,005 (GRCm39) |
Y519N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,292,819 (GRCm39) |
V380A |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,600 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,480 (GRCm39) |
V2564A |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,281,774 (GRCm39) |
T337A |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,756 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
A |
G |
10: 24,155,334 (GRCm39) |
N245S |
probably benign |
Het |
| Napepld |
T |
C |
5: 21,888,440 (GRCm39) |
E3G |
probably benign |
Het |
| Nr1d2 |
T |
C |
14: 18,222,011 (GRCm38) |
T87A |
probably benign |
Het |
| Nudt4 |
T |
A |
10: 95,385,245 (GRCm39) |
T149S |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,597,859 (GRCm39) |
D219E |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,760,560 (GRCm39) |
I1508V |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,038,420 (GRCm39) |
S1635N |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,919 (GRCm39) |
V121A |
probably benign |
Het |
| Snapc4 |
T |
C |
2: 26,258,212 (GRCm39) |
D736G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,811 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
C |
3: 107,521,962 (GRCm39) |
I739V |
probably benign |
Het |
| Tmem161a |
T |
C |
8: 70,629,577 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,547,970 (GRCm39) |
T39A |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,890,175 (GRCm39) |
M926T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,587,624 (GRCm39) |
K19744* |
probably null |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,777 (GRCm39) |
E784G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,940,415 (GRCm39) |
F774S |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,554,909 (GRCm39) |
Y101* |
probably null |
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 |
|
IGL02447:Il18r1
|
APN |
1 |
40,537,497 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
Incidental Mutation