Incidental Mutation 'IGL02928:Il18r1'
ID |
363994 |
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 # |
IGL02928
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 40517711 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 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: 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 null
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 null
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 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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,980,327 (GRCm39) |
Y92C |
probably damaging |
Het |
Aadacl4fm1 |
A |
T |
4: 144,255,802 (GRCm39) |
L407F |
possibly damaging |
Het |
Abcc3 |
G |
T |
11: 94,252,132 (GRCm39) |
T817K |
possibly damaging |
Het |
Arhgap10 |
G |
A |
8: 77,977,539 (GRCm39) |
|
probably benign |
Het |
Arhgef16 |
G |
T |
4: 154,367,350 (GRCm39) |
Q352K |
probably benign |
Het |
Cep104 |
A |
G |
4: 154,065,716 (GRCm39) |
I68V |
probably benign |
Het |
Col5a2 |
G |
A |
1: 45,424,180 (GRCm39) |
A1082V |
probably benign |
Het |
Col6a1 |
A |
T |
10: 76,545,500 (GRCm39) |
Y991N |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,129,798 (GRCm39) |
I1021T |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,303,168 (GRCm39) |
|
probably null |
Het |
Ern1 |
A |
G |
11: 106,296,705 (GRCm39) |
|
probably benign |
Het |
Fgf18 |
A |
T |
11: 33,074,674 (GRCm39) |
I99N |
possibly damaging |
Het |
Glp1r |
A |
G |
17: 31,137,911 (GRCm39) |
D114G |
probably benign |
Het |
Gm10553 |
A |
G |
1: 85,077,933 (GRCm39) |
K17E |
possibly damaging |
Het |
Gm5422 |
T |
A |
10: 31,126,250 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
A |
C |
4: 155,637,863 (GRCm39) |
T196P |
probably benign |
Het |
Ighv6-5 |
T |
A |
12: 114,380,412 (GRCm39) |
D35V |
probably benign |
Het |
Ipo11 |
A |
T |
13: 107,025,863 (GRCm39) |
|
probably benign |
Het |
Itih1 |
T |
A |
14: 30,659,715 (GRCm39) |
Q307L |
probably damaging |
Het |
Mmp1b |
T |
A |
9: 7,368,242 (GRCm39) |
*464L |
probably null |
Het |
Mrps7 |
C |
T |
11: 115,495,910 (GRCm39) |
Q113* |
probably null |
Het |
Npat |
A |
C |
9: 53,478,138 (GRCm39) |
|
probably benign |
Het |
Nrp2 |
A |
G |
1: 62,854,605 (GRCm39) |
I852V |
probably damaging |
Het |
Or10ak14 |
A |
G |
4: 118,611,697 (GRCm39) |
F15L |
probably damaging |
Het |
Or5ae2 |
A |
G |
7: 84,506,273 (GRCm39) |
E232G |
probably benign |
Het |
P2rx6 |
T |
A |
16: 17,382,901 (GRCm39) |
|
probably benign |
Het |
Parp6 |
T |
A |
9: 59,548,346 (GRCm39) |
N466K |
possibly damaging |
Het |
Prss12 |
A |
T |
3: 123,280,805 (GRCm39) |
N497Y |
possibly damaging |
Het |
Psg22 |
T |
C |
7: 18,453,458 (GRCm39) |
V51A |
probably damaging |
Het |
Ptgir |
T |
C |
7: 16,642,923 (GRCm39) |
S175P |
possibly damaging |
Het |
Rd3l |
T |
C |
12: 111,946,012 (GRCm39) |
S156G |
probably benign |
Het |
Reck |
C |
T |
4: 43,912,078 (GRCm39) |
H196Y |
possibly damaging |
Het |
Rft1 |
T |
A |
14: 30,385,072 (GRCm39) |
V165D |
possibly damaging |
Het |
Rin2 |
A |
G |
2: 145,701,926 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
A |
G |
1: 74,168,241 (GRCm39) |
|
probably benign |
Het |
Scfd2 |
G |
A |
5: 74,691,832 (GRCm39) |
T150M |
probably damaging |
Het |
Sgca |
A |
G |
11: 94,863,129 (GRCm39) |
W75R |
probably damaging |
Het |
Sirt7 |
A |
T |
11: 120,511,042 (GRCm39) |
D318E |
probably benign |
Het |
Smr2l |
A |
T |
5: 88,424,976 (GRCm39) |
I14L |
probably benign |
Het |
Snta1 |
C |
T |
2: 154,222,959 (GRCm39) |
A255T |
probably benign |
Het |
Stxbp2 |
A |
G |
8: 3,691,736 (GRCm39) |
D485G |
probably damaging |
Het |
Sycp1 |
T |
A |
3: 102,726,134 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,917,997 (GRCm39) |
V1922A |
possibly damaging |
Het |
Ttc7b |
A |
T |
12: 100,369,674 (GRCm39) |
V365D |
probably damaging |
Het |
Upk3b |
A |
G |
5: 136,067,995 (GRCm39) |
E62G |
probably benign |
Het |
Wdr36 |
T |
C |
18: 32,980,372 (GRCm39) |
|
probably null |
Het |
Yars2 |
T |
C |
16: 16,121,410 (GRCm39) |
F188S |
probably 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 |
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 |
2015-12-18 |