Incidental Mutation 'R9194:Il18rap'
ID |
697843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
068953-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9194 (G1)
|
Quality Score |
225.009 |
Status
|
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
94% (44/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,166,371 (GRCm39) |
M1K |
probably null |
Het |
Adra1b |
A |
T |
11: 43,726,263 (GRCm39) |
V218D |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,606,255 (GRCm39) |
S1216G |
possibly damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cfap44 |
G |
T |
16: 44,288,824 (GRCm39) |
D1525Y |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,439,650 (GRCm39) |
M2341K |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,027,319 (GRCm39) |
T249A |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,434,850 (GRCm39) |
V336A |
probably benign |
Het |
Dennd3 |
T |
C |
15: 73,419,153 (GRCm39) |
L648P |
probably benign |
Het |
Dhx16 |
T |
C |
17: 36,200,173 (GRCm39) |
V864A |
probably benign |
Het |
Enpp3 |
G |
A |
10: 24,675,092 (GRCm39) |
H362Y |
possibly damaging |
Het |
Ess2 |
A |
T |
16: 17,728,028 (GRCm39) |
D79E |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,671,299 (GRCm39) |
Y712F |
probably damaging |
Het |
Helz |
C |
T |
11: 107,561,113 (GRCm39) |
Q1392* |
probably null |
Het |
Iqch |
T |
C |
9: 63,479,961 (GRCm39) |
H143R |
probably benign |
Het |
Itgb5 |
A |
G |
16: 33,720,881 (GRCm39) |
D315G |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,236,174 (GRCm39) |
K141R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,391,676 (GRCm39) |
P1250S |
probably benign |
Het |
Mcm5 |
T |
G |
8: 75,836,962 (GRCm39) |
V110G |
probably damaging |
Het |
Med27 |
G |
A |
2: 29,361,312 (GRCm39) |
D163N |
probably damaging |
Het |
Mms22l |
C |
A |
4: 24,600,185 (GRCm39) |
Y1129* |
probably null |
Het |
Mov10l1 |
G |
A |
15: 88,931,023 (GRCm39) |
R1081H |
probably damaging |
Het |
Mtpap |
C |
T |
18: 4,380,834 (GRCm39) |
Q171* |
probably null |
Het |
Mtpap |
C |
G |
18: 4,380,833 (GRCm39) |
N170K |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,153,836 (GRCm39) |
F271I |
unknown |
Het |
Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
Nfatc1 |
C |
T |
18: 80,751,258 (GRCm39) |
A26T |
probably benign |
Het |
Or7d11 |
C |
A |
9: 19,966,543 (GRCm39) |
C72F |
probably damaging |
Het |
Piezo2 |
G |
C |
18: 63,250,815 (GRCm39) |
T428S |
probably benign |
Het |
Prkch |
A |
G |
12: 73,768,616 (GRCm39) |
E462G |
probably damaging |
Het |
Rbm20 |
A |
G |
19: 53,823,131 (GRCm39) |
Y576C |
probably damaging |
Het |
Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
Rpp40 |
C |
T |
13: 36,080,898 (GRCm39) |
D302N |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,615,969 (GRCm39) |
V631A |
probably damaging |
Het |
Sstr2 |
A |
G |
11: 113,515,203 (GRCm39) |
T41A |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,843,371 (GRCm39) |
V861E |
possibly damaging |
Het |
Tomm70a |
A |
G |
16: 56,973,070 (GRCm39) |
K603E |
possibly damaging |
Het |
Tpd52l2 |
T |
A |
2: 181,141,683 (GRCm39) |
M22K |
possibly damaging |
Het |
Tpst1 |
T |
A |
5: 130,130,860 (GRCm39) |
L110Q |
possibly damaging |
Het |
Tram1l1 |
A |
G |
3: 124,115,137 (GRCm39) |
Y99C |
possibly damaging |
Het |
Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
Ubr1 |
A |
G |
2: 120,778,325 (GRCm39) |
Y238H |
probably damaging |
Het |
Vmn1r202 |
G |
T |
13: 22,686,316 (GRCm39) |
H34N |
possibly damaging |
Het |
Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
Xpnpep1 |
A |
T |
19: 53,000,289 (GRCm39) |
V187E |
possibly damaging |
Het |
Zfp592 |
A |
G |
7: 80,674,349 (GRCm39) |
I438V |
probably benign |
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 |
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 |
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'- GGAATTTCCCATCAACCTGGC -3'
(R):5'- ACTTTTCTCATGGGCTCTGG -3'
Sequencing Primer
(F):5'- CAACCTGGCTCTCTAGAGTTAATTG -3'
(R):5'- GCAGGAGGCATGTGAAATCAC -3'
|
Posted On |
2022-02-07 |