Incidental Mutation 'IGL01505:Il18rap'
| ID |
89023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40576244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 252
(I252V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
| AlphaFold |
Q9Z2B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027237
AA Change: I252V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: I252V
| 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: ENSMUST00000160468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163057
|
| Coding Region Coverage |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
C |
18: 69,080,418 (GRCm39) |
|
probably null |
Het |
| A2m |
A |
G |
6: 121,653,906 (GRCm39) |
N1413S |
possibly damaging |
Het |
| Aadacl4fm4 |
C |
T |
4: 144,401,188 (GRCm39) |
V99M |
probably damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,862,376 (GRCm39) |
N488Y |
probably benign |
Het |
| Arid4a |
G |
A |
12: 71,083,889 (GRCm39) |
D94N |
probably damaging |
Het |
| Atp7a |
A |
G |
X: 105,153,436 (GRCm39) |
K1114E |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,265,512 (GRCm39) |
V275M |
probably benign |
Het |
| Ceacam12 |
T |
C |
7: 17,801,357 (GRCm39) |
V112A |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,229,345 (GRCm39) |
D2256V |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,093,807 (GRCm39) |
|
probably null |
Het |
| Clcn5 |
A |
T |
X: 7,036,678 (GRCm39) |
L268* |
probably null |
Het |
| Cldn17 |
A |
G |
16: 88,303,591 (GRCm39) |
I46T |
possibly damaging |
Het |
| Cnot1 |
A |
T |
8: 96,455,346 (GRCm39) |
I2025N |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,706,092 (GRCm39) |
V574M |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,318,619 (GRCm39) |
C1373S |
unknown |
Het |
| Col9a1 |
A |
G |
1: 24,224,205 (GRCm39) |
N129S |
unknown |
Het |
| Cp |
C |
T |
3: 20,031,356 (GRCm39) |
P598S |
possibly damaging |
Het |
| Cpb1 |
G |
A |
3: 20,320,410 (GRCm39) |
R150C |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,115,917 (GRCm39) |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,291,692 (GRCm39) |
E215G |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,760,239 (GRCm39) |
R1634Q |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,554,004 (GRCm39) |
T313A |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,585,971 (GRCm39) |
V185E |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,902,003 (GRCm38) |
|
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,062 (GRCm39) |
E315G |
probably benign |
Het |
| Gjd3 |
T |
A |
11: 102,691,552 (GRCm39) |
K150N |
probably benign |
Het |
| Gpihbp1 |
C |
T |
15: 75,469,977 (GRCm39) |
|
probably benign |
Het |
| Gpr160 |
T |
C |
3: 30,950,002 (GRCm39) |
S25P |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,820,608 (GRCm39) |
R58* |
probably null |
Het |
| Ifit1 |
T |
A |
19: 34,625,854 (GRCm39) |
M330K |
probably benign |
Het |
| Igkv1-122 |
T |
C |
6: 67,994,178 (GRCm39) |
V22A |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,183,048 (GRCm39) |
D692E |
probably benign |
Het |
| Il15ra |
T |
C |
2: 11,737,956 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
C |
T |
6: 130,249,680 (GRCm39) |
G202R |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 144,929,661 (GRCm39) |
V388A |
probably damaging |
Het |
| L2hgdh |
A |
G |
12: 69,768,175 (GRCm39) |
S108P |
probably damaging |
Het |
| Msto1 |
G |
A |
3: 88,818,050 (GRCm39) |
T388M |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,441 (GRCm39) |
E908G |
probably damaging |
Het |
| Neto1 |
C |
A |
18: 86,491,814 (GRCm39) |
D238E |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,117,159 (GRCm39) |
D294E |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,635,816 (GRCm39) |
S306P |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,055,167 (GRCm39) |
C240* |
probably null |
Het |
| Pard3 |
T |
A |
8: 128,050,544 (GRCm39) |
L202H |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,458,293 (GRCm39) |
N190S |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,127,222 (GRCm39) |
D1077G |
probably benign |
Het |
| Pmfbp1 |
A |
C |
8: 110,240,543 (GRCm39) |
L208F |
probably damaging |
Het |
| Pms1 |
C |
T |
1: 53,246,130 (GRCm39) |
D470N |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,238,578 (GRCm39) |
F108L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,804 (GRCm39) |
M327K |
possibly damaging |
Het |
| Slc37a4 |
T |
A |
9: 44,311,261 (GRCm39) |
L184Q |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,094 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 75,047,117 (GRCm39) |
Y1270C |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,581,565 (GRCm39) |
V169E |
possibly damaging |
Het |
| Stpg2 |
C |
T |
3: 139,023,214 (GRCm39) |
A410V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,764,164 (GRCm39) |
D555E |
probably benign |
Het |
| Tsg101 |
A |
G |
7: 46,558,808 (GRCm39) |
Y46H |
probably damaging |
Het |
| Vmn2r111 |
G |
A |
17: 22,767,553 (GRCm39) |
S648L |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,267 (GRCm39) |
R682* |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,514 (GRCm39) |
I676N |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation