Incidental Mutation 'R0299:Il18rap'
| ID |
24767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il18rap
|
| Ensembl Gene |
ENSMUSG00000026068 |
| Gene Name |
interleukin 18 receptor accessory protein |
| Synonyms |
AcPL accessory protein-like) |
| MMRRC Submission |
038513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40564218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 112
(H112L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
| AlphaFold |
Q9Z2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027237
AA Change: H112L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: H112L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163057
|
| Meta Mutation Damage Score |
0.0842 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.3%
- 20x: 90.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,615 (GRCm39) |
R176S |
possibly damaging |
Het |
| A2ml1 |
T |
G |
6: 128,530,195 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,248,076 (GRCm39) |
E2608K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,197,201 (GRCm39) |
E146G |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,588,015 (GRCm39) |
D894V |
probably damaging |
Het |
| Ap4b1 |
T |
C |
3: 103,717,262 (GRCm39) |
M1T |
probably null |
Het |
| Arg2 |
A |
G |
12: 79,194,386 (GRCm39) |
D70G |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
| Celf6 |
C |
A |
9: 59,510,161 (GRCm39) |
T86K |
probably benign |
Het |
| Clec2h |
T |
C |
6: 128,647,858 (GRCm39) |
V69A |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,262,950 (GRCm39) |
D534V |
probably damaging |
Het |
| Col16a1 |
TCCCC |
TCCC |
4: 129,952,111 (GRCm39) |
|
probably null |
Het |
| Degs1 |
A |
T |
1: 182,106,836 (GRCm39) |
I141N |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,934,483 (GRCm39) |
F1489L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,514,646 (GRCm39) |
R1424G |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,767,466 (GRCm39) |
I716T |
probably benign |
Het |
| Frk |
T |
C |
10: 34,360,367 (GRCm39) |
|
probably null |
Het |
| Fshr |
C |
G |
17: 89,316,713 (GRCm39) |
S169T |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
| Gm11596 |
G |
A |
11: 99,683,770 (GRCm39) |
P117S |
unknown |
Het |
| Gm6327 |
T |
C |
16: 12,579,061 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,476,121 (GRCm39) |
L268P |
probably damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,671 (GRCm39) |
V203M |
probably damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,363 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,309 (GRCm39) |
Y317* |
probably null |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,560 (GRCm39) |
L372P |
probably benign |
Het |
| Mss51 |
T |
A |
14: 20,534,756 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,306,466 (GRCm39) |
T296I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,893,881 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,732 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak9 |
A |
G |
4: 118,726,613 (GRCm39) |
I212V |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,688,791 (GRCm39) |
V820A |
probably benign |
Het |
| Pdcd10 |
T |
C |
3: 75,434,958 (GRCm39) |
K111R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,201,924 (GRCm39) |
V496E |
probably benign |
Het |
| Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
| Plxnc1 |
C |
T |
10: 94,685,683 (GRCm39) |
|
probably null |
Het |
| Ptpru |
G |
A |
4: 131,530,698 (GRCm39) |
Q519* |
probably null |
Het |
| Pzp |
A |
G |
6: 128,472,293 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,828,426 (GRCm39) |
D547E |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,732,016 (GRCm39) |
L281Q |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,967,729 (GRCm39) |
N222S |
probably benign |
Het |
| Sh3bgrl2 |
A |
G |
9: 83,459,612 (GRCm39) |
K57E |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 59,007,383 (GRCm39) |
E289G |
probably benign |
Het |
| Sik3 |
T |
C |
9: 46,120,038 (GRCm39) |
M659T |
possibly damaging |
Het |
| Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,227,053 (GRCm39) |
|
probably benign |
Het |
| Suco |
G |
A |
1: 161,681,379 (GRCm39) |
T253I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,263,359 (GRCm39) |
D1409G |
probably damaging |
Het |
| Tram2 |
T |
C |
1: 21,074,468 (GRCm39) |
D238G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,964,237 (GRCm39) |
M1244T |
possibly damaging |
Het |
| Trub1 |
A |
G |
19: 57,472,057 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ugcg |
G |
C |
4: 59,217,036 (GRCm39) |
V187L |
possibly damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,494 (GRCm39) |
Q265L |
probably damaging |
Het |
| Zfp821 |
G |
T |
8: 110,450,862 (GRCm39) |
R285L |
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 |
|
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 |
|
R9024: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'- GCTGTAATTTTCAGCTTGTGCCACC -3'
(R):5'- GTGTTCCCACAGGACACGTTTCTC -3'
Sequencing Primer
(F):5'- TGTGACTTACAAGAGCTTCAGG -3'
(R):5'- CTCTGAGGCTTAACTTCTAAGACTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation