Incidental Mutation 'R7863:Il1rap'
ID |
607682 |
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 |
045916-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7863 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26495461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 23
(R23C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
AlphaFold |
Q61730 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023156
AA Change: R23C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514 AA Change: R23C
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 damaging
Transcript: ENSMUST00000096129
AA Change: R23C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: R23C
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 damaging
Transcript: ENSMUST00000166294
AA Change: R23C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: R23C
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 damaging
Transcript: ENSMUST00000174171
AA Change: R23C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133904 Gene: ENSMUSG00000022514 AA Change: R23C
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 damaging
Transcript: ENSMUST00000174202
AA Change: R23C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134202 Gene: ENSMUSG00000022514 AA Change: R23C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
A |
G |
11: 48,838,101 (GRCm39) |
S829P |
probably benign |
Het |
Abca1 |
A |
T |
4: 53,107,179 (GRCm39) |
F183I |
probably benign |
Het |
Abca12 |
A |
T |
1: 71,332,656 (GRCm39) |
M1235K |
probably damaging |
Het |
Abca7 |
A |
G |
10: 79,844,655 (GRCm39) |
D1488G |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,596 (GRCm39) |
Y387C |
probably damaging |
Het |
Adnp |
T |
C |
2: 168,031,270 (GRCm39) |
K14E |
possibly damaging |
Het |
Ago3 |
T |
C |
4: 126,243,990 (GRCm39) |
R721G |
possibly damaging |
Het |
Aldh3b3 |
T |
A |
19: 4,015,322 (GRCm39) |
Y196* |
probably null |
Het |
Alox12b |
T |
C |
11: 69,057,753 (GRCm39) |
W506R |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,338,734 (GRCm39) |
I402V |
probably benign |
Het |
Cep55 |
C |
T |
19: 38,046,247 (GRCm39) |
|
probably benign |
Het |
Chl1 |
A |
G |
6: 103,683,475 (GRCm39) |
N767S |
possibly damaging |
Het |
Cldn6 |
A |
G |
17: 23,900,096 (GRCm39) |
N20S |
probably benign |
Het |
Col23a1 |
A |
T |
11: 51,463,597 (GRCm39) |
I420F |
probably damaging |
Het |
Cxcr6 |
G |
A |
9: 123,639,914 (GRCm39) |
R312Q |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,375,622 (GRCm39) |
V35A |
probably benign |
Het |
Def6 |
A |
G |
17: 28,446,841 (GRCm39) |
N548D |
possibly damaging |
Het |
Dock6 |
A |
G |
9: 21,757,954 (GRCm39) |
V50A |
possibly damaging |
Het |
Epha8 |
T |
A |
4: 136,660,966 (GRCm39) |
I639F |
probably damaging |
Het |
Ephx2 |
T |
A |
14: 66,344,692 (GRCm39) |
R211* |
probably null |
Het |
Espn |
C |
T |
4: 152,236,616 (GRCm39) |
V17M |
probably damaging |
Het |
Ezr |
A |
G |
17: 7,008,863 (GRCm39) |
L403P |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Golm1 |
T |
C |
13: 59,797,383 (GRCm39) |
Y154C |
probably damaging |
Het |
Gpam |
A |
G |
19: 55,059,388 (GRCm39) |
Y820H |
probably damaging |
Het |
Gpr12 |
T |
C |
5: 146,520,370 (GRCm39) |
D184G |
possibly damaging |
Het |
Gpr87 |
C |
T |
3: 59,087,317 (GRCm39) |
A63T |
probably damaging |
Het |
Hmx2 |
G |
T |
7: 131,156,082 (GRCm39) |
G16V |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,292,135 (GRCm39) |
V4009A |
probably benign |
Het |
Iglc3 |
T |
C |
16: 18,884,248 (GRCm39) |
D61G |
not run |
Het |
Ikzf2 |
G |
T |
1: 69,609,796 (GRCm39) |
Q144K |
possibly damaging |
Het |
Kctd9 |
T |
A |
14: 67,967,166 (GRCm39) |
D161E |
possibly damaging |
Het |
Klhl8 |
T |
C |
5: 104,019,968 (GRCm39) |
N351S |
probably benign |
Het |
Krt28 |
G |
A |
11: 99,255,999 (GRCm39) |
T420I |
possibly damaging |
Het |
Marchf7 |
T |
A |
2: 60,071,366 (GRCm39) |
H623Q |
probably benign |
Het |
Max |
A |
G |
12: 76,986,848 (GRCm39) |
I63T |
probably damaging |
Het |
Mrpl28 |
T |
A |
17: 26,343,615 (GRCm39) |
V125E |
possibly damaging |
Het |
Mtmr10 |
T |
A |
7: 63,969,205 (GRCm39) |
D322E |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,045,435 (GRCm39) |
T366A |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,342,059 (GRCm39) |
Y529N |
possibly damaging |
Het |
Nlrx1 |
A |
G |
9: 44,176,509 (GRCm39) |
I31T |
probably benign |
Het |
Oaz2 |
G |
A |
9: 65,596,449 (GRCm39) |
R171Q |
possibly damaging |
Het |
Or4c121 |
T |
G |
2: 89,024,295 (GRCm39) |
I28L |
probably benign |
Het |
Or5a1 |
T |
G |
19: 12,097,974 (GRCm39) |
D34A |
possibly damaging |
Het |
Or5t16 |
T |
G |
2: 86,819,424 (GRCm39) |
Y32S |
probably damaging |
Het |
Pcdhgc4 |
T |
A |
18: 37,951,027 (GRCm39) |
Y814* |
probably null |
Het |
Pcm1 |
T |
A |
8: 41,714,163 (GRCm39) |
I243K |
probably damaging |
Het |
Pdcd11 |
A |
T |
19: 47,085,403 (GRCm39) |
N171I |
probably damaging |
Het |
Phf20l1 |
T |
A |
15: 66,487,084 (GRCm39) |
V400E |
possibly damaging |
Het |
Pira13 |
C |
T |
7: 3,827,801 (GRCm39) |
|
probably null |
Het |
Psg28 |
T |
A |
7: 18,162,042 (GRCm39) |
T154S |
possibly damaging |
Het |
Ptgs2 |
T |
A |
1: 149,977,090 (GRCm39) |
M99K |
probably damaging |
Het |
Ptprh |
T |
A |
7: 4,606,097 (GRCm39) |
M1L |
probably benign |
Het |
Rbp4 |
T |
C |
19: 38,112,546 (GRCm39) |
T140A |
possibly damaging |
Het |
Rhbdd3 |
G |
A |
11: 5,053,236 (GRCm39) |
R12Q |
probably benign |
Het |
Saal1 |
T |
C |
7: 46,342,327 (GRCm39) |
N372S |
probably benign |
Het |
Satb1 |
T |
C |
17: 52,112,350 (GRCm39) |
E88G |
possibly damaging |
Het |
Shfl |
G |
A |
9: 20,782,672 (GRCm39) |
A79T |
possibly damaging |
Het |
Slc49a3 |
A |
T |
5: 108,593,400 (GRCm39) |
L146Q |
probably damaging |
Het |
Slc6a9 |
G |
T |
4: 117,721,207 (GRCm39) |
C319F |
probably damaging |
Het |
Smc6 |
T |
G |
12: 11,339,130 (GRCm39) |
V322G |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,073,609 (GRCm39) |
F1336I |
probably damaging |
Het |
Spg7 |
T |
A |
8: 123,815,788 (GRCm39) |
|
probably null |
Het |
Stab2 |
G |
A |
10: 86,808,745 (GRCm39) |
T188I |
probably benign |
Het |
Tbata |
A |
G |
10: 61,011,521 (GRCm39) |
E19G |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,331,760 (GRCm39) |
V757A |
possibly damaging |
Het |
Tle1 |
T |
C |
4: 72,059,529 (GRCm39) |
S261G |
probably null |
Het |
Tlr3 |
T |
A |
8: 45,850,774 (GRCm39) |
I708L |
probably benign |
Het |
Tph2 |
A |
C |
10: 114,915,906 (GRCm39) |
S422R |
probably damaging |
Het |
Trim26 |
A |
G |
17: 37,161,664 (GRCm39) |
T28A |
probably damaging |
Het |
Trmt10c |
A |
G |
16: 55,855,554 (GRCm39) |
L27S |
probably benign |
Het |
Tubb6 |
T |
C |
18: 67,534,790 (GRCm39) |
S230P |
probably damaging |
Het |
Usf1 |
C |
T |
1: 171,245,385 (GRCm39) |
Q266* |
probably null |
Het |
Vegfa |
A |
G |
17: 46,336,461 (GRCm39) |
F220L |
probably damaging |
Het |
Vmn2r105 |
C |
T |
17: 20,428,937 (GRCm39) |
C713Y |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,568,035 (GRCm39) |
S53T |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,343,074 (GRCm39) |
T1772S |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,007,747 (GRCm39) |
I62T |
probably benign |
Het |
Zfp516 |
T |
A |
18: 83,019,453 (GRCm39) |
I1157N |
probably benign |
Het |
Zfp819 |
C |
A |
7: 43,267,316 (GRCm39) |
Q600K |
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 |
R0302:Il1rap
|
UTSW |
16 |
26,511,544 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- TCCCTGAGAGATTTCACAGTACC -3'
(R):5'- AGTTAATGGGCTCCTCCAGGTC -3'
Sequencing Primer
(F):5'- TGAGAGATTTCACAGTACCAAAAC -3'
(R):5'- TCCAGGTCCCGGTCTTG -3'
|
Posted On |
2019-12-20 |