Incidental Mutation 'R8201:Il18rap'
ID |
635654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
067624-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8201 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 40578429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 280
(R280I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027237
AA Change: R280I
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: R280I
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 |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
Cct4 |
T |
A |
11: 22,949,115 (GRCm39) |
V287E |
probably damaging |
Het |
Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
Entrep3 |
T |
C |
3: 89,093,115 (GRCm39) |
V291A |
probably damaging |
Het |
Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
Fcgrt |
T |
A |
7: 44,744,634 (GRCm39) |
Q274L |
possibly damaging |
Het |
Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
Noct |
T |
C |
3: 51,155,444 (GRCm39) |
S135P |
probably benign |
Het |
Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
Pdlim1 |
A |
T |
19: 40,218,958 (GRCm39) |
D224E |
probably benign |
Het |
Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,969,202 (GRCm39) |
V833E |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
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 |
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 |
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'- TGGCTATTCCTGGTACCCAC -3'
(R):5'- TGAGAAATGGAGTGCCTCTG -3'
Sequencing Primer
(F):5'- TGGTACCCACTTGACGGACAC -3'
(R):5'- TAGACAGACAGACAGATAGTGTTTAC -3'
|
Posted On |
2020-07-13 |