Incidental Mutation 'R7930:Il18rap'
ID |
643502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il18rap
|
Ensembl Gene |
ENSMUSG00000026068 |
Gene Name |
interleukin 18 receptor accessory protein |
Synonyms |
AcPL accessory protein-like) |
MMRRC Submission |
045977-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7930 (G1)
|
Quality Score |
999 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
40554522-40590865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40587803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 467
(V467A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027237]
|
AlphaFold |
Q9Z2B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027237
AA Change: V467A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027237 Gene: ENSMUSG00000026068 AA Change: V467A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
C |
T |
8: 41,250,107 (GRCm39) |
T739I |
probably benign |
Het |
Adam23 |
G |
T |
1: 63,624,586 (GRCm39) |
V805F |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,499,547 (GRCm39) |
R31S |
probably damaging |
Het |
Ahnak2 |
T |
C |
12: 112,745,560 (GRCm39) |
E629G |
|
Het |
Ano4 |
T |
A |
10: 89,163,138 (GRCm39) |
Y27F |
possibly damaging |
Het |
Bbs2 |
A |
G |
8: 94,796,625 (GRCm39) |
V675A |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,481,975 (GRCm39) |
E2839G |
probably damaging |
Het |
Capn5 |
C |
T |
7: 97,773,085 (GRCm39) |
V640I |
probably benign |
Het |
Casp4 |
C |
T |
9: 5,321,318 (GRCm39) |
T23M |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,028,920 (GRCm39) |
E379K |
possibly damaging |
Het |
Comp |
G |
A |
8: 70,826,503 (GRCm39) |
G26D |
probably damaging |
Het |
Cpxm1 |
G |
A |
2: 130,236,982 (GRCm39) |
A220V |
possibly damaging |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
G |
T |
19: 39,831,434 (GRCm39) |
P460T |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,504 (GRCm39) |
D555G |
probably damaging |
Het |
Dusp9 |
AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG |
AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG |
X: 72,684,128 (GRCm39) |
|
probably benign |
Het |
E2f6 |
T |
A |
12: 16,869,058 (GRCm39) |
I127K |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,733,589 (GRCm39) |
D716E |
probably benign |
Het |
Esp16 |
T |
G |
17: 39,850,868 (GRCm39) |
S82R |
possibly damaging |
Het |
Fasn |
A |
C |
11: 120,700,061 (GRCm39) |
S2199A |
probably benign |
Het |
Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
Gas7 |
A |
G |
11: 67,556,217 (GRCm39) |
I185M |
probably damaging |
Het |
Glg1 |
A |
T |
8: 111,887,367 (GRCm39) |
L1047I |
possibly damaging |
Het |
Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
Gm7876 |
A |
T |
14: 4,711,357 (GRCm38) |
I124L |
possibly damaging |
Het |
Golga5 |
A |
G |
12: 102,450,681 (GRCm39) |
N445D |
probably benign |
Het |
Grin2c |
A |
T |
11: 115,147,063 (GRCm39) |
H377Q |
probably benign |
Het |
Hmgcs1 |
T |
C |
13: 120,161,499 (GRCm39) |
I97T |
possibly damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,769 (GRCm39) |
T131A |
possibly damaging |
Het |
Ifngr1 |
A |
G |
10: 19,484,931 (GRCm39) |
K310R |
probably damaging |
Het |
Itgad |
C |
A |
7: 127,782,280 (GRCm39) |
Q239K |
probably benign |
Het |
Jrkl |
T |
C |
9: 13,245,506 (GRCm39) |
I52V |
possibly damaging |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Krt75 |
C |
A |
15: 101,473,318 (GRCm39) |
*552L |
probably null |
Het |
Mbd2 |
A |
G |
18: 70,701,948 (GRCm39) |
D154G |
probably damaging |
Het |
Muc4 |
C |
CTAG |
16: 32,575,369 (GRCm39) |
|
probably benign |
Het |
Mutyh |
A |
T |
4: 116,674,153 (GRCm39) |
N235Y |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,864,825 (GRCm39) |
T1348A |
probably benign |
Het |
Ndufs7 |
T |
C |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
G |
6: 35,171,511 (GRCm39) |
M458R |
probably damaging |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or1e32 |
A |
C |
11: 73,705,926 (GRCm39) |
|
probably benign |
Het |
Or1j4 |
G |
T |
2: 36,740,285 (GRCm39) |
V76F |
probably damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,019 (GRCm39) |
P181L |
probably damaging |
Het |
Or6b2 |
T |
A |
1: 92,407,570 (GRCm39) |
M258L |
probably benign |
Het |
Or8b101 |
A |
G |
9: 38,020,264 (GRCm39) |
N89S |
possibly damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,560 (GRCm39) |
T279S |
probably damaging |
Het |
Plcl2 |
T |
G |
17: 50,913,831 (GRCm39) |
I280S |
probably benign |
Het |
Ppargc1a |
A |
T |
5: 51,630,264 (GRCm39) |
Y618N |
unknown |
Het |
Rab43 |
A |
T |
6: 87,788,348 (GRCm39) |
I60N |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,596,726 (GRCm39) |
C231S |
probably damaging |
Het |
Rnf220 |
T |
A |
4: 117,164,787 (GRCm39) |
E238D |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,335,193 (GRCm39) |
D1265E |
probably damaging |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Sntb2 |
T |
A |
8: 107,728,269 (GRCm39) |
S406T |
probably damaging |
Het |
Sos1 |
T |
C |
17: 80,714,267 (GRCm39) |
I1068V |
probably benign |
Het |
Spart |
A |
G |
3: 55,035,697 (GRCm39) |
K519E |
probably damaging |
Het |
Tlx3 |
A |
T |
11: 33,153,058 (GRCm39) |
F134L |
probably damaging |
Het |
Trbj1-2 |
A |
T |
6: 41,510,964 (GRCm39) |
T10S |
|
Het |
Txk |
A |
C |
5: 72,892,536 (GRCm39) |
L33R |
probably damaging |
Het |
Ulk2 |
A |
G |
11: 61,682,258 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,900,556 (GRCm39) |
S357P |
probably benign |
Het |
Wac |
T |
A |
18: 7,921,560 (GRCm39) |
N565K |
possibly damaging |
Het |
Zfp1007 |
A |
T |
5: 109,823,622 (GRCm39) |
C609* |
probably null |
Het |
Zfp709 |
G |
T |
8: 72,644,684 (GRCm39) |
K704N |
probably damaging |
Het |
Zfp788 |
C |
T |
7: 41,299,049 (GRCm39) |
Q562* |
probably null |
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 |
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'- CTTCAACAGCTCAGAGTGTGGG -3'
(R):5'- TCAAGCCTTTCCATGTGACTG -3'
Sequencing Primer
(F):5'- GGCGGGTCCTTTCTCCTTATG -3'
(R):5'- CGCAGAGCCTTTTTGACAAG -3'
|
Posted On |
2020-08-07 |