Incidental Mutation 'R0302:Il1rap'
| ID |
24876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rap
|
| Ensembl Gene |
ENSMUSG00000022514 |
| Gene Name |
interleukin 1 receptor accessory protein |
| Synonyms |
IL-1RAcP, 6430709H04Rik, IL-1R AcP |
| MMRRC Submission |
038514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26511544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 196
(N196S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023156
AA Change: N196S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: N196S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
32 |
132 |
1.21e-2 |
SMART |
|
IG
|
145 |
232 |
4.04e0 |
SMART |
|
IG
|
251 |
350 |
1.46e-5 |
SMART |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
TIR
|
404 |
549 |
5.29e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096129
AA Change: N196S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: N196S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
32 |
132 |
1.21e-2 |
SMART |
|
IG
|
145 |
232 |
4.04e0 |
SMART |
|
IG
|
251 |
350 |
1.46e-5 |
SMART |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
TIR
|
404 |
547 |
1.38e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166294
AA Change: N196S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: N196S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
32 |
132 |
1.21e-2 |
SMART |
|
IG
|
145 |
232 |
4.04e0 |
SMART |
|
IG
|
251 |
350 |
1.46e-5 |
SMART |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
TIR
|
404 |
547 |
1.38e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174171
AA Change: N196S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: N196S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
32 |
132 |
1.21e-2 |
SMART |
|
IG
|
145 |
232 |
4.04e0 |
SMART |
|
Blast:IG
|
251 |
312 |
1e-28 |
BLAST |
|
low complexity region
|
316 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174202
AA Change: N196S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: N196S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
32 |
132 |
1.21e-2 |
SMART |
|
IG
|
145 |
232 |
4.04e0 |
SMART |
|
IG
|
251 |
350 |
1.46e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.1840 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes the interleukin 1 receptor accessory protein. The protein is a necessary part of the interleukin 1 receptor complex which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
T |
C |
4: 126,211,185 (GRCm39) |
E244G |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,356,229 (GRCm39) |
P54S |
probably damaging |
Het |
| Ankdd1a |
G |
A |
9: 65,416,924 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
T |
A |
13: 98,408,200 (GRCm39) |
S216R |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,028,342 (GRCm39) |
Y893C |
probably benign |
Het |
| Capza2 |
G |
A |
6: 17,648,523 (GRCm39) |
R15H |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,376,796 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
A |
T |
5: 36,643,445 (GRCm39) |
T484S |
possibly damaging |
Het |
| Cckar |
GCTTAGCCTCTTCT |
GCT |
5: 53,857,641 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
T |
A |
11: 83,554,280 (GRCm39) |
|
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,302,073 (GRCm39) |
Y702H |
probably benign |
Het |
| Cr1l |
G |
A |
1: 194,800,101 (GRCm39) |
T153I |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,009 (GRCm39) |
E57* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,594 (GRCm39) |
S575T |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,061,890 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,521,956 (GRCm39) |
D1923G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,162,937 (GRCm39) |
T428A |
probably benign |
Het |
| Dnm2 |
G |
T |
9: 21,411,639 (GRCm39) |
A619S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,723,457 (GRCm39) |
T639A |
probably benign |
Het |
| Epsti1 |
A |
T |
14: 78,177,366 (GRCm39) |
H182L |
probably damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,175 (GRCm39) |
R250Q |
probably benign |
Het |
| Ggn |
G |
T |
7: 28,870,665 (GRCm39) |
|
probably null |
Het |
| Ints6 |
T |
C |
14: 62,946,961 (GRCm39) |
T335A |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,148,854 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
G |
T |
8: 95,830,098 (GRCm39) |
Q557K |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,369,027 (GRCm39) |
I422T |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,274,901 (GRCm39) |
|
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,364,619 (GRCm39) |
T326A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,047,506 (GRCm39) |
I909V |
possibly damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,552 (GRCm39) |
R396L |
probably benign |
Het |
| Lypd6 |
T |
G |
2: 50,055,679 (GRCm39) |
|
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,645 (GRCm39) |
N610S |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,987 (GRCm39) |
N959I |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,740,012 (GRCm39) |
V793I |
possibly damaging |
Het |
| Med25 |
A |
C |
7: 44,529,982 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,748,616 (GRCm39) |
Y83C |
probably damaging |
Het |
| Mtbp |
A |
T |
15: 55,488,820 (GRCm39) |
M499L |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,333 (GRCm39) |
I542T |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,022,358 (GRCm39) |
M90T |
probably damaging |
Het |
| Nsmce4a |
A |
G |
7: 130,147,623 (GRCm39) |
|
probably benign |
Het |
| Oprl1 |
G |
A |
2: 181,361,021 (GRCm39) |
C318Y |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,854 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,572 (GRCm39) |
S46T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,516,818 (GRCm39) |
F575I |
possibly damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,713,091 (GRCm39) |
S1738I |
probably benign |
Het |
| Rnf126 |
G |
T |
10: 79,595,057 (GRCm39) |
P269Q |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,477,468 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,233,978 (GRCm39) |
A31V |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,218 (GRCm39) |
D487G |
probably damaging |
Het |
| Son |
G |
T |
16: 91,453,032 (GRCm39) |
G593V |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,964 (GRCm39) |
N388S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,922,668 (GRCm39) |
M927K |
possibly damaging |
Het |
| Taf13 |
A |
G |
3: 108,479,038 (GRCm39) |
M1V |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,902,603 (GRCm39) |
F286S |
probably damaging |
Het |
| Trpm2 |
A |
C |
10: 77,779,824 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,353,438 (GRCm39) |
M390V |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,968 (GRCm39) |
Q238L |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,213 (GRCm39) |
E368G |
probably damaging |
Het |
| Zfr2 |
G |
T |
10: 81,087,170 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il1rap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Il1rap
|
APN |
16 |
26,541,151 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL00976:Il1rap
|
APN |
16 |
26,517,589 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01075:Il1rap
|
APN |
16 |
26,498,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01665:Il1rap
|
APN |
16 |
26,541,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01962:Il1rap
|
APN |
16 |
26,529,318 (GRCm39) |
nonsense |
probably null |
|
|
IGL02101:Il1rap
|
APN |
16 |
26,442,932 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02411:Il1rap
|
APN |
16 |
26,529,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Il1rap
|
APN |
16 |
26,498,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bacchus
|
UTSW |
16 |
26,529,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
I1329:Il1rap
|
UTSW |
16 |
26,511,600 (GRCm39) |
missense |
probably benign |
0.07 |
|
LCD18:Il1rap
|
UTSW |
16 |
26,450,343 (GRCm39) |
intron |
probably benign |
|
|
PIT1430001:Il1rap
|
UTSW |
16 |
26,529,343 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0454:Il1rap
|
UTSW |
16 |
26,517,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Il1rap
|
UTSW |
16 |
26,511,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Il1rap
|
UTSW |
16 |
26,519,855 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0765:Il1rap
|
UTSW |
16 |
26,529,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1552:Il1rap
|
UTSW |
16 |
26,541,184 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1801:Il1rap
|
UTSW |
16 |
26,517,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Il1rap
|
UTSW |
16 |
26,541,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Il1rap
|
UTSW |
16 |
26,541,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Il1rap
|
UTSW |
16 |
26,541,243 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2118:Il1rap
|
UTSW |
16 |
26,529,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Il1rap
|
UTSW |
16 |
26,529,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Il1rap
|
UTSW |
16 |
26,529,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Il1rap
|
UTSW |
16 |
26,541,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3105:Il1rap
|
UTSW |
16 |
26,541,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3106:Il1rap
|
UTSW |
16 |
26,541,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3891:Il1rap
|
UTSW |
16 |
26,495,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Il1rap
|
UTSW |
16 |
26,541,636 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4409:Il1rap
|
UTSW |
16 |
26,531,015 (GRCm39) |
splice site |
probably null |
|
|
R4610:Il1rap
|
UTSW |
16 |
26,533,526 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4755:Il1rap
|
UTSW |
16 |
26,541,532 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4776:Il1rap
|
UTSW |
16 |
26,511,549 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4793:Il1rap
|
UTSW |
16 |
26,513,984 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4811:Il1rap
|
UTSW |
16 |
26,519,988 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4834:Il1rap
|
UTSW |
16 |
26,495,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Il1rap
|
UTSW |
16 |
26,442,949 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5744:Il1rap
|
UTSW |
16 |
26,498,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6108:Il1rap
|
UTSW |
16 |
26,541,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Il1rap
|
UTSW |
16 |
26,530,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Il1rap
|
UTSW |
16 |
26,529,256 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6246:Il1rap
|
UTSW |
16 |
26,533,631 (GRCm39) |
missense |
probably benign |
|
|
R6249:Il1rap
|
UTSW |
16 |
26,511,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6254:Il1rap
|
UTSW |
16 |
26,514,020 (GRCm39) |
missense |
probably benign |
|
|
R6748:Il1rap
|
UTSW |
16 |
26,541,106 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7151:Il1rap
|
UTSW |
16 |
26,530,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Il1rap
|
UTSW |
16 |
26,541,658 (GRCm39) |
missense |
probably benign |
|
|
R7818:Il1rap
|
UTSW |
16 |
26,517,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Il1rap
|
UTSW |
16 |
26,541,151 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7863:Il1rap
|
UTSW |
16 |
26,495,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8240:Il1rap
|
UTSW |
16 |
26,520,001 (GRCm39) |
missense |
probably benign |
|
|
R8559:Il1rap
|
UTSW |
16 |
26,530,884 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8934:Il1rap
|
UTSW |
16 |
26,495,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Il1rap
|
UTSW |
16 |
26,533,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Il1rap
|
UTSW |
16 |
26,541,724 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9286:Il1rap
|
UTSW |
16 |
26,517,604 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9326:Il1rap
|
UTSW |
16 |
26,495,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Il1rap
|
UTSW |
16 |
26,533,675 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9493:Il1rap
|
UTSW |
16 |
26,541,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9723:Il1rap
|
UTSW |
16 |
26,442,907 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
X0027:Il1rap
|
UTSW |
16 |
26,519,897 (GRCm39) |
missense |
probably benign |
0.20 |
|
X0028:Il1rap
|
UTSW |
16 |
26,495,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Il1rap
|
UTSW |
16 |
26,541,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGATGCTTGACTTGGAGGTCATATC -3'
(R):5'- AGTTTACATGGACCTGCTTTTGGACTG -3'
Sequencing Primer
(F):5'- CAAAGAAATATCGTCCAGAGTCTTG -3'
(R):5'- GGGATAGTGCATGAATAAATTCTGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation