Incidental Mutation 'R9304:Il18r1'
| ID |
705098 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 40510893 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 |
probably benign
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 |
probably benign
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
A |
G |
3: 36,536,072 (GRCm39) |
K113E |
unknown |
Het |
| 4930486L24Rik |
T |
C |
13: 61,001,352 (GRCm39) |
Y125C |
probably damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
T |
14: 68,874,946 (GRCm39) |
Y244N |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,113,019 (GRCm39) |
D944G |
unknown |
Het |
| Asb2 |
G |
A |
12: 103,302,225 (GRCm39) |
P108S |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,824,179 (GRCm39) |
Y540C |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,597 (GRCm39) |
Q63R |
probably benign |
Het |
| Cdhr5 |
G |
A |
7: 140,851,474 (GRCm39) |
P610L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,464 (GRCm39) |
K87E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,569,805 (GRCm39) |
D1206G |
|
Het |
| Diaph3 |
T |
C |
14: 87,328,448 (GRCm39) |
E98G |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,700,855 (GRCm39) |
E1185V |
unknown |
Het |
| Enpp2 |
C |
T |
15: 54,815,969 (GRCm39) |
R65H |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,819 (GRCm39) |
V195A |
probably benign |
Het |
| Gm14412 |
T |
C |
2: 177,007,547 (GRCm39) |
D116G |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,126,560 (GRCm39) |
D273E |
probably benign |
Het |
| Gulp1 |
A |
T |
1: 44,793,593 (GRCm39) |
K85* |
probably null |
Het |
| Htra3 |
A |
G |
5: 35,836,515 (GRCm39) |
V59A |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,055,400 (GRCm39) |
Y244* |
probably null |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,980,974 (GRCm39) |
D316G |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,028,516 (GRCm39) |
S116P |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,880 (GRCm39) |
D19E |
probably benign |
Het |
| Prob1 |
C |
A |
18: 35,787,708 (GRCm39) |
G182V |
probably damaging |
Het |
| Psmb9 |
A |
G |
17: 34,406,222 (GRCm39) |
|
probably null |
Het |
| Pudp |
T |
A |
18: 50,701,670 (GRCm39) |
D21V |
probably damaging |
Het |
| Rhobtb2 |
G |
A |
14: 70,025,376 (GRCm39) |
H633Y |
probably damaging |
Het |
| Rpf2 |
A |
G |
10: 40,119,850 (GRCm39) |
|
probably null |
Het |
| Sbk2 |
A |
G |
7: 4,960,507 (GRCm39) |
I221T |
probably damaging |
Het |
| Slc10a1 |
G |
A |
12: 81,004,957 (GRCm39) |
T195I |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,131,930 (GRCm39) |
P360Q |
probably benign |
Het |
| Speer1k |
G |
A |
5: 10,998,949 (GRCm39) |
R29Q |
|
Het |
| Stom |
A |
G |
2: 35,211,697 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trdn |
G |
T |
10: 33,181,087 (GRCm39) |
|
probably null |
Het |
| Trmt61a |
T |
A |
12: 111,647,437 (GRCm39) |
V178D |
possibly damaging |
Het |
| Trpv4 |
C |
A |
5: 114,782,702 (GRCm39) |
E87* |
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,776,117 (GRCm39) |
F1687S |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,247 (GRCm39) |
F985L |
probably benign |
Het |
| Vdac3 |
T |
A |
8: 23,070,568 (GRCm39) |
K114N |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,279 (GRCm39) |
S60P |
possibly damaging |
Het |
| Zkscan4 |
T |
A |
13: 21,665,570 (GRCm39) |
S182T |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCAGATTAAAAGATATCAGGCC -3'
(R):5'- GGCAACTTCAGTAACTGTGTCAG -3'
Sequencing Primer
(F):5'- GTGGGAGCTAAAATTCATTGCC -3'
(R):5'- CAGTAACTGTGTCAGCTATCAGAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation