Incidental Mutation 'R1801:Il1rap'
ID |
203176 |
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 |
039831-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1801 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26517625 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 275
(D275V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
AlphaFold |
Q61730 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023156
AA Change: D275V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514 AA Change: D275V
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: D275V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: D275V
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: D275V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: D275V
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: D275V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133904 Gene: ENSMUSG00000022514 AA Change: D275V
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: D275V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134202 Gene: ENSMUSG00000022514 AA Change: D275V
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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.5%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,230 (GRCm39) |
E362G |
probably damaging |
Het |
Abcc5 |
T |
C |
16: 20,157,637 (GRCm39) |
M1307V |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,078,954 (GRCm39) |
C423* |
probably null |
Het |
Adamts9 |
A |
G |
6: 92,840,357 (GRCm39) |
V1142A |
probably benign |
Het |
Ano10 |
T |
C |
9: 122,082,096 (GRCm39) |
N525S |
probably damaging |
Het |
Bpifa2 |
T |
C |
2: 153,853,424 (GRCm39) |
|
probably null |
Het |
C7 |
C |
T |
15: 5,041,503 (GRCm39) |
V468I |
possibly damaging |
Het |
Carf |
A |
T |
1: 60,180,664 (GRCm39) |
H362L |
possibly damaging |
Het |
Ccdc171 |
A |
C |
4: 83,465,132 (GRCm39) |
I37L |
probably benign |
Het |
Ccdc182 |
T |
C |
11: 88,185,016 (GRCm39) |
L32P |
possibly damaging |
Het |
Celsr3 |
A |
T |
9: 108,711,825 (GRCm39) |
D1678V |
possibly damaging |
Het |
Col7a1 |
A |
T |
9: 108,790,065 (GRCm39) |
Y920F |
unknown |
Het |
Cpsf3 |
T |
C |
12: 21,363,791 (GRCm39) |
V627A |
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,871,941 (GRCm39) |
M640T |
probably damaging |
Het |
Ddi2 |
T |
C |
4: 141,411,283 (GRCm39) |
D543G |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,846,123 (GRCm39) |
N2972D |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,857 (GRCm39) |
D304G |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,026,705 (GRCm39) |
V1232A |
possibly damaging |
Het |
Ezr |
T |
C |
17: 7,009,771 (GRCm39) |
T358A |
possibly damaging |
Het |
Filip1 |
A |
G |
9: 79,723,128 (GRCm39) |
S1164P |
probably damaging |
Het |
Gmip |
T |
C |
8: 70,267,127 (GRCm39) |
V341A |
probably benign |
Het |
Gnb3 |
A |
C |
6: 124,812,599 (GRCm39) |
F286V |
probably benign |
Het |
Gpatch2 |
T |
A |
1: 186,958,028 (GRCm39) |
S128T |
probably benign |
Het |
Gpr87 |
T |
C |
3: 59,086,813 (GRCm39) |
R231G |
possibly damaging |
Het |
Hip1r |
G |
A |
5: 124,136,871 (GRCm39) |
R613Q |
probably benign |
Het |
Hsd3b7 |
T |
C |
7: 127,402,206 (GRCm39) |
Y284H |
possibly damaging |
Het |
Il4 |
G |
T |
11: 53,509,365 (GRCm39) |
H23Q |
possibly damaging |
Het |
Kit |
A |
G |
5: 75,809,053 (GRCm39) |
Y749C |
probably damaging |
Het |
Klb |
A |
G |
5: 65,506,578 (GRCm39) |
K275R |
probably null |
Het |
Klhl12 |
G |
T |
1: 134,416,808 (GRCm39) |
R510L |
probably damaging |
Het |
Lrrc8b |
A |
G |
5: 105,628,689 (GRCm39) |
Y345C |
probably damaging |
Het |
Med15 |
T |
C |
16: 17,498,599 (GRCm39) |
T98A |
possibly damaging |
Het |
Mmp1a |
T |
A |
9: 7,475,391 (GRCm39) |
Y387N |
probably damaging |
Het |
Myrf |
C |
A |
19: 10,191,555 (GRCm39) |
V928L |
probably benign |
Het |
Nr1d1 |
T |
C |
11: 98,662,325 (GRCm39) |
K134E |
probably damaging |
Het |
Nrxn3 |
A |
T |
12: 90,250,356 (GRCm39) |
D305V |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,889,147 (GRCm39) |
S7542A |
unknown |
Het |
Or4a27 |
T |
A |
2: 88,559,608 (GRCm39) |
I112F |
probably damaging |
Het |
Pak4 |
G |
A |
7: 28,264,615 (GRCm39) |
R96C |
probably damaging |
Het |
Pde6b |
A |
T |
5: 108,575,713 (GRCm39) |
D691V |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,221,601 (GRCm39) |
E171G |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,387,740 (GRCm39) |
V873I |
possibly damaging |
Het |
Plb1 |
A |
T |
5: 32,450,587 (GRCm39) |
D376V |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,913,904 (GRCm39) |
Y1209H |
probably damaging |
Het |
Prickle2 |
A |
G |
6: 92,393,885 (GRCm39) |
C263R |
probably damaging |
Het |
Psma2 |
A |
T |
13: 14,798,190 (GRCm39) |
Y104F |
probably benign |
Het |
Ptger4 |
T |
A |
15: 5,272,281 (GRCm39) |
M113L |
possibly damaging |
Het |
Rgs10 |
T |
G |
7: 128,006,201 (GRCm39) |
D17A |
possibly damaging |
Het |
Rpap3 |
A |
G |
15: 97,592,090 (GRCm39) |
S189P |
possibly damaging |
Het |
Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,610,167 (GRCm39) |
S655G |
probably benign |
Het |
Samd4b |
A |
T |
7: 28,106,756 (GRCm39) |
|
probably null |
Het |
Sema4a |
C |
T |
3: 88,344,056 (GRCm39) |
D732N |
probably benign |
Het |
Sh3bp5l |
A |
G |
11: 58,237,177 (GRCm39) |
D378G |
probably benign |
Het |
Sh3gl3 |
C |
T |
7: 81,933,327 (GRCm39) |
T230I |
possibly damaging |
Het |
Slc28a2b |
C |
T |
2: 122,352,133 (GRCm39) |
R324C |
possibly damaging |
Het |
Slc5a1 |
A |
T |
5: 33,304,297 (GRCm39) |
Q299L |
probably damaging |
Het |
Ssc5d |
C |
A |
7: 4,939,606 (GRCm39) |
H681N |
probably benign |
Het |
Sugp2 |
T |
C |
8: 70,689,360 (GRCm39) |
S10P |
possibly damaging |
Het |
Supt5 |
A |
G |
7: 28,016,639 (GRCm39) |
|
probably null |
Het |
Syna |
A |
G |
5: 134,588,943 (GRCm39) |
V2A |
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,141,089 (GRCm39) |
Y299* |
probably null |
Het |
Tenm3 |
C |
A |
8: 48,729,291 (GRCm39) |
V1572L |
probably benign |
Het |
Tent4b |
T |
G |
8: 88,977,416 (GRCm39) |
V406G |
probably benign |
Het |
Trp53rka |
A |
G |
2: 165,333,533 (GRCm39) |
S119P |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,179,874 (GRCm39) |
|
probably null |
Het |
Uchl4 |
T |
A |
9: 64,142,757 (GRCm39) |
D79E |
probably benign |
Het |
Vmn2r17 |
C |
A |
5: 109,576,344 (GRCm39) |
T405K |
probably damaging |
Het |
Xpnpep1 |
A |
G |
19: 52,998,564 (GRCm39) |
L228P |
probably damaging |
Het |
Xrcc4 |
T |
G |
13: 90,140,698 (GRCm39) |
E170D |
probably damaging |
Het |
Zfp945 |
T |
C |
17: 23,070,736 (GRCm39) |
T388A |
probably damaging |
Het |
Zfp947 |
G |
A |
17: 22,365,443 (GRCm39) |
A77V |
probably benign |
Het |
Zkscan5 |
G |
A |
5: 145,157,015 (GRCm39) |
G433R |
probably damaging |
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 |
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'- CCACCCTTGTAATTTCATGGACAC -3'
(R):5'- TTTAATGACCCTGCAGCCCC -3'
Sequencing Primer
(F):5'- TGTAATTTCATGGACACTTGCTC -3'
(R):5'- CAGCCCCTGAAGGTTGAAAAATCTTG -3'
|
Posted On |
2014-06-23 |