Incidental Mutation 'R8913:Il18rap'
ID |
678729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
068702-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8913 (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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
96% (65/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,303,972 (GRCm39) |
Y2102H |
probably damaging |
Het |
Adam30 |
A |
T |
3: 98,068,580 (GRCm39) |
I10F |
possibly damaging |
Het |
Afap1l1 |
C |
T |
18: 61,889,910 (GRCm39) |
|
probably null |
Het |
Asz1 |
T |
C |
6: 18,054,570 (GRCm39) |
D411G |
probably benign |
Het |
Atp8b2 |
A |
G |
3: 89,852,830 (GRCm39) |
L144P |
|
Het |
Atxn7l3 |
G |
T |
11: 102,185,787 (GRCm39) |
N13K |
probably damaging |
Het |
Cap1 |
C |
A |
4: 122,761,445 (GRCm39) |
|
probably null |
Het |
Cd244a |
T |
A |
1: 171,401,774 (GRCm39) |
Y167N |
probably damaging |
Het |
Cd244a |
A |
T |
1: 171,401,775 (GRCm39) |
Y167F |
probably damaging |
Het |
Cd302 |
A |
G |
2: 60,088,241 (GRCm39) |
F92S |
probably damaging |
Het |
Cep128 |
C |
T |
12: 91,331,221 (GRCm39) |
|
probably null |
Het |
Csmd2 |
C |
A |
4: 128,417,351 (GRCm39) |
P2770T |
|
Het |
Cyp4f40 |
G |
T |
17: 32,886,810 (GRCm39) |
D122Y |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,553,063 (GRCm39) |
E2583G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,624,602 (GRCm39) |
V3714A |
probably benign |
Het |
Fam114a1 |
G |
T |
5: 65,185,821 (GRCm39) |
A381S |
possibly damaging |
Het |
Fzd8 |
A |
G |
18: 9,213,869 (GRCm39) |
Y317C |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,891,579 (GRCm39) |
K2312R |
possibly damaging |
Het |
Klhl23 |
G |
A |
2: 69,664,234 (GRCm39) |
E528K |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,982,039 (GRCm39) |
V1756A |
probably benign |
Het |
Lcn2 |
C |
A |
2: 32,277,158 (GRCm39) |
V53F |
possibly damaging |
Het |
Lrp4 |
T |
C |
2: 91,331,785 (GRCm39) |
S1633P |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,363 (GRCm39) |
V996A |
probably benign |
Het |
Mettl9 |
T |
G |
7: 120,675,539 (GRCm39) |
F313C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,215,924 (GRCm39) |
H373Q |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,947,010 (GRCm39) |
|
probably benign |
Het |
Myo1a |
T |
C |
10: 127,541,710 (GRCm39) |
V83A |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,665 (GRCm39) |
T45A |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,401,564 (GRCm39) |
V40A |
possibly damaging |
Het |
Nherf2 |
G |
A |
17: 24,863,839 (GRCm39) |
S12L |
probably benign |
Het |
Nmt1 |
G |
T |
11: 102,948,271 (GRCm39) |
R265L |
probably damaging |
Het |
Nwd2 |
C |
A |
5: 63,963,440 (GRCm39) |
A1008D |
possibly damaging |
Het |
Obsl1 |
C |
T |
1: 75,467,892 (GRCm39) |
A1334T |
probably benign |
Het |
Oplah |
T |
C |
15: 76,181,680 (GRCm39) |
M1114V |
|
Het |
Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
Or10a49 |
A |
T |
7: 108,467,809 (GRCm39) |
V184E |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or2w6 |
A |
G |
13: 21,843,274 (GRCm39) |
F73S |
probably damaging |
Het |
Or4c29 |
A |
G |
2: 88,739,991 (GRCm39) |
F249L |
probably benign |
Het |
Pdlim5 |
A |
T |
3: 141,950,666 (GRCm39) |
F582L |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,544,365 (GRCm39) |
F671L |
probably damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,923,947 (GRCm39) |
V725E |
probably damaging |
Het |
Psmd11 |
C |
T |
11: 80,362,338 (GRCm39) |
T396I |
probably damaging |
Het |
Ptn |
C |
T |
6: 36,718,276 (GRCm39) |
D130N |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,159,034 (GRCm39) |
D473G |
probably benign |
Het |
Robo1 |
A |
C |
16: 72,701,622 (GRCm39) |
I163L |
probably damaging |
Het |
Ror1 |
A |
C |
4: 100,265,027 (GRCm39) |
D167A |
possibly damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,520,595 (GRCm39) |
D709G |
|
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Runx2 |
T |
C |
17: 44,919,169 (GRCm39) |
T472A |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,623,094 (GRCm39) |
T582A |
probably damaging |
Het |
Serpina3m |
C |
T |
12: 104,355,477 (GRCm39) |
A48V |
probably benign |
Het |
Smim8 |
T |
A |
4: 34,769,056 (GRCm39) |
D76V |
possibly damaging |
Het |
Sqor |
A |
G |
2: 122,641,806 (GRCm39) |
K260R |
probably benign |
Het |
Syde2 |
A |
T |
3: 145,708,148 (GRCm39) |
I963F |
probably damaging |
Het |
Tasor |
A |
T |
14: 27,188,145 (GRCm39) |
N864Y |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,351,952 (GRCm39) |
|
probably benign |
Het |
Tm7sf3 |
A |
T |
6: 146,527,621 (GRCm39) |
Y68* |
probably null |
Het |
Tmtc2 |
T |
A |
10: 105,158,887 (GRCm39) |
I569F |
probably damaging |
Het |
Upf3a |
G |
A |
8: 13,845,728 (GRCm39) |
V276M |
possibly damaging |
Het |
Vmn1r174 |
G |
A |
7: 23,453,375 (GRCm39) |
V14M |
possibly damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,249,968 (GRCm39) |
S768P |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,785,778 (GRCm39) |
T194S |
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,309,543 (GRCm39) |
M852T |
probably benign |
Het |
Zfp207 |
T |
A |
11: 80,276,744 (GRCm39) |
D19E |
probably damaging |
Het |
Zfp318 |
G |
A |
17: 46,722,699 (GRCm39) |
M1567I |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,578,653 (GRCm39) |
E820V |
probably damaging |
Het |
Zfp512b |
A |
T |
2: 181,227,282 (GRCm39) |
C46S |
|
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 |
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'- GGAATTTCCCATCAACCTGGC -3'
(R):5'- CAGGCATTAGCTACCTCTGAC -3'
Sequencing Primer
(F):5'- CAACCTGGCTCTCTAGAGTTAATTG -3'
(R):5'- GACTTTTCTCATGGGCTCTGGC -3'
|
Posted On |
2021-08-02 |