Incidental Mutation 'R9024:Il18rap'
ID |
686398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9024 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40582177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 366
(T366M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027237
AA Change: T366M
PolyPhen 2
Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: T366M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Blast:IG_like
|
31 |
144 |
2e-36 |
BLAST |
IG
|
159 |
240 |
2.94e0 |
SMART |
IG
|
257 |
354 |
1.35e0 |
SMART |
transmembrane domain
|
363 |
385 |
N/A |
INTRINSIC |
TIR
|
406 |
561 |
3.68e-35 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Interleukin-18 (or interferon-gamma inducing factor) is a proinflammatory cytokine that induces cell-mediated immunity following microbial infection. This gene encodes a member of the interleukin-1 receptor family. The encoded protein is an accessory subunit of the receptor for interleukin-18 and mediates signaling through this cytokine. Mice lacking this gene exhibit a defective cell-mediated immune response. [provided by RefSeq, Jan 2014] PHENOTYPE: Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
C |
A |
3: 137,891,923 (GRCm39) |
A16S |
unknown |
Het |
Aldh3b1 |
T |
A |
19: 3,968,155 (GRCm39) |
I335F |
probably damaging |
Het |
Asph |
A |
T |
4: 9,475,025 (GRCm39) |
Y650N |
probably damaging |
Het |
Atr |
T |
C |
9: 95,789,416 (GRCm39) |
V1524A |
possibly damaging |
Het |
Ccin |
A |
G |
4: 43,983,562 (GRCm39) |
|
probably benign |
Het |
Cdk15 |
A |
T |
1: 59,326,957 (GRCm39) |
I213F |
probably damaging |
Het |
Chfr |
G |
T |
5: 110,306,698 (GRCm39) |
S481I |
probably benign |
Het |
Coro2a |
T |
C |
4: 46,542,323 (GRCm39) |
D350G |
probably benign |
Het |
Ctps1 |
C |
A |
4: 120,406,707 (GRCm39) |
E350* |
probably null |
Het |
Dctn4 |
G |
A |
18: 60,678,894 (GRCm39) |
|
probably null |
Het |
Epha4 |
C |
A |
1: 77,365,169 (GRCm39) |
R610L |
possibly damaging |
Het |
Esp4 |
A |
T |
17: 40,911,102 (GRCm39) |
M1L |
unknown |
Het |
Fads3 |
T |
C |
19: 10,033,839 (GRCm39) |
V408A |
probably damaging |
Het |
Gm19402 |
T |
A |
10: 77,525,805 (GRCm39) |
K263* |
probably null |
Het |
Gm26657 |
G |
T |
4: 56,740,769 (GRCm39) |
|
probably benign |
Het |
Hsdl1 |
A |
G |
8: 120,290,839 (GRCm39) |
V311A |
probably benign |
Het |
Hsp90b1 |
A |
G |
10: 86,541,174 (GRCm39) |
F16L |
possibly damaging |
Het |
Icmt |
T |
C |
4: 152,385,161 (GRCm39) |
C208R |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
Kif21a |
T |
A |
15: 90,821,399 (GRCm39) |
K1465* |
probably null |
Het |
Klhl9 |
A |
T |
4: 88,639,999 (GRCm39) |
F81I |
probably damaging |
Het |
Kynu |
A |
G |
2: 43,490,807 (GRCm39) |
H170R |
possibly damaging |
Het |
Mmp12 |
A |
G |
9: 7,355,444 (GRCm39) |
Y397C |
probably damaging |
Het |
Mpped2 |
T |
C |
2: 106,614,043 (GRCm39) |
F126L |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,287,936 (GRCm39) |
P236S |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,793,295 (GRCm39) |
T1291A |
possibly damaging |
Het |
Myom2 |
T |
C |
8: 15,113,936 (GRCm39) |
L28P |
probably damaging |
Het |
Nfatc2 |
T |
C |
2: 168,328,648 (GRCm39) |
*924W |
probably null |
Het |
Nrip1 |
G |
T |
16: 76,088,388 (GRCm39) |
Y1056* |
probably null |
Het |
Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
Oxr1 |
A |
G |
15: 41,694,518 (GRCm39) |
Y20C |
probably damaging |
Het |
P2ry2 |
T |
C |
7: 100,647,229 (GRCm39) |
T359A |
probably damaging |
Het |
Paxbp1 |
G |
A |
16: 90,840,963 (GRCm39) |
R94C |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,783,623 (GRCm39) |
Y569C |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,592,975 (GRCm39) |
T1713A |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,370,176 (GRCm39) |
S56G |
probably benign |
Het |
Plekhg5 |
T |
C |
4: 152,197,118 (GRCm39) |
I801T |
possibly damaging |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Pogz |
A |
T |
3: 94,785,543 (GRCm39) |
N833Y |
probably damaging |
Het |
Polk |
G |
T |
13: 96,623,340 (GRCm39) |
H501N |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,874,567 (GRCm39) |
N1043S |
probably damaging |
Het |
Rad18 |
A |
T |
6: 112,626,562 (GRCm39) |
C448S |
probably benign |
Het |
Rhof |
T |
A |
5: 123,269,963 (GRCm39) |
K65* |
probably null |
Het |
Rpa2 |
T |
C |
4: 132,499,153 (GRCm39) |
V74A |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 110,015,001 (GRCm39) |
M522T |
probably damaging |
Het |
Snai2 |
T |
C |
16: 14,524,769 (GRCm39) |
S92P |
probably benign |
Het |
Srrt |
C |
A |
5: 137,301,291 (GRCm39) |
R45L |
unknown |
Het |
Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
Tubd1 |
T |
G |
11: 86,445,991 (GRCm39) |
H210Q |
possibly damaging |
Het |
Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
Vmn2r63 |
T |
G |
7: 42,577,874 (GRCm39) |
R221S |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,923,470 (GRCm39) |
I3782V |
probably damaging |
Het |
Zfp184 |
T |
A |
13: 22,143,128 (GRCm39) |
I278N |
probably damaging |
Het |
|
Other mutations in Il18rap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Il18rap
|
APN |
1 |
40,581,081 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01467:Il18rap
|
APN |
1 |
40,587,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01505:Il18rap
|
APN |
1 |
40,576,244 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02215:Il18rap
|
APN |
1 |
40,587,082 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03307:Il18rap
|
APN |
1 |
40,582,227 (GRCm39) |
missense |
probably benign |
0.01 |
BB006:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
BB016:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
BB017:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R0136:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
R0299:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
R0358:Il18rap
|
UTSW |
1 |
40,588,202 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0499:Il18rap
|
UTSW |
1 |
40,564,218 (GRCm39) |
missense |
probably benign |
0.04 |
R0830:Il18rap
|
UTSW |
1 |
40,582,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Il18rap
|
UTSW |
1 |
40,570,682 (GRCm39) |
missense |
probably benign |
0.00 |
R1817:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
R1818:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
R1819:Il18rap
|
UTSW |
1 |
40,570,687 (GRCm39) |
missense |
probably benign |
0.04 |
R3721:Il18rap
|
UTSW |
1 |
40,576,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Il18rap
|
UTSW |
1 |
40,578,536 (GRCm39) |
intron |
probably benign |
|
R5663:Il18rap
|
UTSW |
1 |
40,570,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5690:Il18rap
|
UTSW |
1 |
40,576,272 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5825:Il18rap
|
UTSW |
1 |
40,570,726 (GRCm39) |
missense |
probably benign |
0.38 |
R6140:Il18rap
|
UTSW |
1 |
40,564,212 (GRCm39) |
missense |
probably benign |
0.04 |
R6291:Il18rap
|
UTSW |
1 |
40,564,049 (GRCm39) |
missense |
probably benign |
0.00 |
R6859:Il18rap
|
UTSW |
1 |
40,564,255 (GRCm39) |
nonsense |
probably null |
|
R6992:Il18rap
|
UTSW |
1 |
40,581,195 (GRCm39) |
missense |
probably benign |
0.00 |
R7317:Il18rap
|
UTSW |
1 |
40,564,536 (GRCm39) |
missense |
probably damaging |
0.98 |
R7402:Il18rap
|
UTSW |
1 |
40,564,111 (GRCm39) |
missense |
probably benign |
0.01 |
R7465:Il18rap
|
UTSW |
1 |
40,582,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R7561:Il18rap
|
UTSW |
1 |
40,563,537 (GRCm39) |
missense |
probably benign |
0.00 |
R7929:Il18rap
|
UTSW |
1 |
40,570,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Il18rap
|
UTSW |
1 |
40,587,803 (GRCm39) |
missense |
probably damaging |
0.99 |
R8151:Il18rap
|
UTSW |
1 |
40,564,428 (GRCm39) |
missense |
probably benign |
0.00 |
R8201:Il18rap
|
UTSW |
1 |
40,578,429 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8356:Il18rap
|
UTSW |
1 |
40,564,084 (GRCm39) |
missense |
probably benign |
0.28 |
R8701:Il18rap
|
UTSW |
1 |
40,578,501 (GRCm39) |
missense |
probably benign |
0.01 |
R8870:Il18rap
|
UTSW |
1 |
40,564,280 (GRCm39) |
splice site |
probably benign |
|
R8874:Il18rap
|
UTSW |
1 |
40,564,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8912:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8913:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8914:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8958:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R8959:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9135:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9136:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9137:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9138:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9194:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9197:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9198:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9200:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9201:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9218:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9353:Il18rap
|
UTSW |
1 |
40,587,088 (GRCm39) |
missense |
probably benign |
0.02 |
R9465:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9466:Il18rap
|
UTSW |
1 |
40,582,177 (GRCm39) |
missense |
probably benign |
0.43 |
R9535:Il18rap
|
UTSW |
1 |
40,586,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATCAACCTGGCTCTCTAG -3'
(R):5'- ACTTTTCTCATGGGCTCTGG -3'
Sequencing Primer
(F):5'- CAACCTGGCTCTCTAGAGTTAATTG -3'
(R):5'- GCAGGAGGCATGTGAAATCAC -3'
|
Posted On |
2021-10-11 |