Incidental Mutation 'R0830:Il18rap'
| ID |
77469 |
| 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 # |
R0830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40582150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 357
(V357E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
| AlphaFold |
Q9Z2B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027237
AA Change: V357E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027237
Gene: ENSMUSG00000026068
AA Change: V357E
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.0%
- 20x: 90.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,624 (GRCm39) |
R145H |
probably damaging |
Het |
| Adam26a |
C |
T |
8: 44,021,439 (GRCm39) |
V684I |
probably benign |
Het |
| Alk |
T |
C |
17: 72,910,195 (GRCm39) |
I170M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,151,239 (GRCm39) |
Y2069H |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,401,992 (GRCm39) |
T1219A |
probably damaging |
Het |
| Bnip1 |
T |
C |
17: 27,008,679 (GRCm39) |
S94P |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,270,224 (GRCm39) |
I805V |
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,378,375 (GRCm39) |
D609E |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,669 (GRCm39) |
V2771E |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,216 (GRCm39) |
K274R |
probably benign |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,101 (GRCm39) |
T1098I |
probably damaging |
Het |
| Ddx39a |
T |
A |
8: 84,446,452 (GRCm39) |
C74S |
possibly damaging |
Het |
| E2f3 |
C |
T |
13: 30,169,543 (GRCm39) |
A37T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,580,815 (GRCm39) |
M637T |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,948,358 (GRCm39) |
L93P |
probably benign |
Het |
| F2 |
T |
C |
2: 91,460,545 (GRCm39) |
E316G |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,053,258 (GRCm39) |
Q4084P |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,981,344 (GRCm39) |
K160E |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,459 (GRCm39) |
T230A |
probably benign |
Het |
| Fthl17a |
A |
G |
X: 84,313,679 (GRCm39) |
N154S |
possibly damaging |
Het |
| Hykk |
G |
A |
9: 54,844,601 (GRCm39) |
R222Q |
probably damaging |
Het |
| Ing4 |
A |
G |
6: 125,020,923 (GRCm39) |
E15G |
probably damaging |
Het |
| Irak1 |
T |
C |
X: 73,060,189 (GRCm39) |
D679G |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,143,568 (GRCm39) |
E321G |
probably benign |
Het |
| Nudt1 |
T |
A |
5: 140,321,076 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
G |
14: 60,480,931 (GRCm39) |
F138S |
probably damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,804 (GRCm39) |
M87L |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,873,532 (GRCm39) |
W49L |
probably benign |
Het |
| Pllp |
T |
C |
8: 95,406,103 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,887,267 (GRCm39) |
V37A |
probably damaging |
Het |
| Poglut3 |
T |
G |
9: 53,302,011 (GRCm39) |
L32R |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,757,797 (GRCm39) |
H310R |
possibly damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Sash1 |
C |
T |
10: 8,605,673 (GRCm39) |
V906M |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,130,128 (GRCm39) |
I1212K |
probably damaging |
Het |
| Stbd1 |
A |
T |
5: 92,752,989 (GRCm39) |
S160C |
probably benign |
Het |
| Tex29 |
T |
C |
8: 11,904,157 (GRCm39) |
V99A |
probably benign |
Het |
| Tg |
A |
T |
15: 66,596,993 (GRCm39) |
N79I |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,860 (GRCm39) |
D389G |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,452 (GRCm39) |
T167A |
possibly damaging |
Het |
| Xkr4 |
C |
T |
1: 3,740,968 (GRCm39) |
G202S |
possibly 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 |
|
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'- CCATGACGGTAGCTTTCCTATGCAG -3'
(R):5'- GAGTGGCACACTGGGTGTTCTTAC -3'
Sequencing Primer
(F):5'- CAAGGTGCTGATGTGACTCC -3'
(R):5'- GGTGTTCTTACCCCCCAGAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation