Incidental Mutation 'R6859:Il18rap'
ID |
537783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
044961-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6859 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 40564255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 124
(Y124*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027237
AA Change: Y124*
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: Y124*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (42/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
Cacul1 |
A |
G |
19: 60,522,683 (GRCm39) |
S284P |
probably damaging |
Het |
Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,067,730 (GRCm39) |
R145L |
probably benign |
Het |
Cyp4f40 |
T |
C |
17: 32,894,923 (GRCm39) |
S454P |
probably benign |
Het |
Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Glmp |
C |
A |
3: 88,235,349 (GRCm39) |
N260K |
probably benign |
Het |
Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
Plbd2 |
A |
G |
5: 120,641,407 (GRCm39) |
F84L |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
Vcl |
T |
C |
14: 21,037,143 (GRCm39) |
V247A |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
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 |
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'- TGCTCACAAACCTTGCAGTGG -3'
(R):5'- AATGGAGCCAGTACTGCCAAG -3'
Sequencing Primer
(F):5'- GCAGTGGCAGTCAGAAGG -3'
(R):5'- CTGCCAAGAAGTAGGACTTGTTC -3'
|
Posted On |
2018-10-18 |