Incidental Mutation 'IGL01726:Il18r1'
| ID |
105286 |
| 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 # |
IGL01726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40504712-40540014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40537563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 443
(S443G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087983]
[ENSMUST00000108044]
[ENSMUST00000195684]
|
| AlphaFold |
Q61098 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087983
AA Change: S443G
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
AA Change: S443G
| 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 |
possibly damaging
Transcript: ENSMUST00000108044
AA Change: S443G
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
AA Change: S443G
| 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 |
possibly damaging
Transcript: ENSMUST00000195684
AA Change: S443G
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
AA Change: S443G
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,638,147 (GRCm39) |
|
probably null |
Het |
| Arpc2 |
A |
G |
1: 74,287,338 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc170 |
C |
A |
10: 4,499,713 (GRCm39) |
L545M |
probably benign |
Het |
| Ccm2l |
T |
C |
2: 152,922,821 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,810,391 (GRCm39) |
N2166D |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcnka |
C |
T |
4: 141,120,051 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,551,518 (GRCm39) |
N201K |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,589,485 (GRCm39) |
L110F |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,947,467 (GRCm39) |
T6A |
unknown |
Het |
| Enthd1 |
A |
C |
15: 80,336,652 (GRCm39) |
L594R |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,272,626 (GRCm39) |
D618G |
probably benign |
Het |
| Gm6096 |
A |
T |
7: 33,950,904 (GRCm39) |
I148F |
probably damaging |
Het |
| Hsf5 |
C |
T |
11: 87,526,951 (GRCm39) |
T541I |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,146,640 (GRCm39) |
D151G |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,754,166 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
A |
C |
1: 192,188,164 (GRCm39) |
D875A |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,439,760 (GRCm39) |
I336F |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,657 (GRCm39) |
F246S |
possibly damaging |
Het |
| Nova1 |
C |
T |
12: 46,760,280 (GRCm39) |
|
probably null |
Het |
| Nsa2 |
C |
A |
13: 97,268,525 (GRCm39) |
A181S |
probably damaging |
Het |
| Ntn5 |
C |
A |
7: 45,343,671 (GRCm39) |
R337S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,611 (GRCm39) |
S427P |
probably benign |
Het |
| Or52e5 |
A |
G |
7: 104,718,836 (GRCm39) |
E54G |
probably damaging |
Het |
| Pcgf1 |
T |
A |
6: 83,055,867 (GRCm39) |
|
probably null |
Het |
| Pfn4 |
T |
A |
12: 4,824,446 (GRCm39) |
L58I |
probably benign |
Het |
| Plekha1 |
C |
A |
7: 130,499,059 (GRCm39) |
P116Q |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,300 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,146 (GRCm39) |
D243G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,389,943 (GRCm39) |
P227L |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,394,904 (GRCm39) |
N756K |
probably damaging |
Het |
| Rhou |
A |
T |
8: 124,380,880 (GRCm39) |
T66S |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,380,704 (GRCm39) |
D103E |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,570,902 (GRCm39) |
K306E |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 38,965,466 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,332,566 (GRCm39) |
T556A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,342,486 (GRCm39) |
K324E |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,640,161 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,817,971 (GRCm39) |
S452T |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,717,121 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,965,708 (GRCm39) |
I571S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,797,433 (GRCm39) |
T544A |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,891,334 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
C |
A |
17: 47,303,907 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,111,574 (GRCm39) |
W360R |
probably damaging |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,526 (GRCm39) |
L639H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,656,000 (GRCm39) |
I116N |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,872 (GRCm39) |
T551I |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 7,230,707 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
T |
C |
13: 21,704,973 (GRCm39) |
H322R |
probably benign |
Het |
| Zwint |
T |
G |
10: 72,493,019 (GRCm39) |
|
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation