Incidental Mutation 'IGL00402:Il1rap'
ID |
3986 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Il1rap
|
Ensembl Gene |
ENSMUSG00000022514 |
Gene Name |
interleukin 1 receptor accessory protein |
Synonyms |
IL-1RAcP, 6430709H04Rik, IL-1R AcP |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00402
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26541151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 464
(M464K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
|
AlphaFold |
Q61730 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023156
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514
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 |
possibly damaging
Transcript: ENSMUST00000096129
AA Change: M464K
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: M464K
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 |
possibly damaging
Transcript: ENSMUST00000166294
AA Change: M464K
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: M464K
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 |
noncoding transcript
Transcript: ENSMUST00000172522
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173136
|
SMART Domains |
Protein: ENSMUSP00000133294 Gene: ENSMUSG00000022514
Domain | Start | End | E-Value | Type |
Blast:TIR
|
2 |
154 |
3e-48 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174644
|
Coding Region Coverage |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,514,165 (GRCm39) |
L846H |
probably benign |
Het |
Abca6 |
A |
T |
11: 110,075,535 (GRCm39) |
L1319I |
probably damaging |
Het |
Apob |
C |
T |
12: 8,043,065 (GRCm39) |
|
probably benign |
Het |
Atg16l2 |
A |
C |
7: 100,945,360 (GRCm39) |
S268R |
probably benign |
Het |
Atp1b3 |
T |
C |
9: 96,215,756 (GRCm39) |
|
probably benign |
Het |
Atxn7 |
T |
G |
14: 14,096,324 (GRCm38) |
|
probably benign |
Het |
Birc6 |
G |
A |
17: 74,880,558 (GRCm39) |
|
probably benign |
Het |
C4b |
G |
A |
17: 34,953,402 (GRCm39) |
T1027I |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,722,863 (GRCm39) |
I577T |
probably damaging |
Het |
Cbx6 |
A |
G |
15: 79,713,130 (GRCm39) |
V99A |
possibly damaging |
Het |
Ccr9 |
A |
C |
9: 123,609,109 (GRCm39) |
I252L |
probably benign |
Het |
Cdh8 |
A |
T |
8: 100,006,322 (GRCm39) |
D88E |
probably damaging |
Het |
Cep135 |
T |
C |
5: 76,749,306 (GRCm39) |
S258P |
probably damaging |
Het |
Cep57l1 |
T |
G |
10: 41,597,547 (GRCm39) |
|
probably benign |
Het |
Cip2a |
T |
A |
16: 48,822,178 (GRCm39) |
H234Q |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,588,819 (GRCm39) |
T1099A |
possibly damaging |
Het |
Col4a4 |
C |
T |
1: 82,469,362 (GRCm39) |
G802D |
unknown |
Het |
Ddx41 |
T |
C |
13: 55,679,212 (GRCm39) |
T545A |
probably damaging |
Het |
Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
Fam13b |
A |
T |
18: 34,587,771 (GRCm39) |
V509D |
probably damaging |
Het |
Ffar4 |
C |
T |
19: 38,095,837 (GRCm39) |
P192L |
probably benign |
Het |
Fn1 |
C |
A |
1: 71,680,322 (GRCm39) |
C461F |
probably damaging |
Het |
Gm14226 |
G |
T |
2: 154,867,078 (GRCm39) |
S345I |
probably damaging |
Het |
Gopc |
T |
C |
10: 52,225,326 (GRCm39) |
K308E |
probably damaging |
Het |
Hapln2 |
A |
T |
3: 87,931,641 (GRCm39) |
N28K |
possibly damaging |
Het |
Hectd1 |
T |
C |
12: 51,815,891 (GRCm39) |
S1394G |
possibly damaging |
Het |
Hectd1 |
T |
C |
12: 51,806,215 (GRCm39) |
H1807R |
probably benign |
Het |
Ifnl2 |
A |
T |
7: 28,208,290 (GRCm39) |
V193D |
possibly damaging |
Het |
Krtap16-1 |
A |
T |
11: 99,876,557 (GRCm39) |
C282* |
probably null |
Het |
Ltv1 |
C |
T |
10: 13,066,327 (GRCm39) |
V100I |
probably benign |
Het |
Mcf2l |
T |
C |
8: 13,050,857 (GRCm39) |
S308P |
probably damaging |
Het |
Narf |
G |
A |
11: 121,129,344 (GRCm39) |
|
probably null |
Het |
Nmd3 |
T |
A |
3: 69,652,573 (GRCm39) |
N386K |
possibly damaging |
Het |
Noxo1 |
C |
T |
17: 24,917,910 (GRCm39) |
|
probably benign |
Het |
Or1e30 |
T |
A |
11: 73,678,406 (GRCm39) |
I214N |
probably damaging |
Het |
Ppic |
C |
T |
18: 53,542,366 (GRCm39) |
G114D |
probably damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,123,014 (GRCm39) |
S339P |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,617,326 (GRCm39) |
V1072A |
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,577,760 (GRCm39) |
M1054L |
probably benign |
Het |
Scara5 |
A |
C |
14: 65,975,864 (GRCm39) |
|
probably benign |
Het |
Smtnl2 |
C |
T |
11: 72,294,085 (GRCm39) |
|
probably benign |
Het |
Spink8 |
A |
T |
9: 109,648,287 (GRCm39) |
I25F |
probably benign |
Het |
Vit |
G |
A |
17: 78,909,336 (GRCm39) |
|
probably null |
Het |
Vps13b |
A |
G |
15: 35,926,372 (GRCm39) |
D3891G |
possibly damaging |
Het |
Zfp207 |
T |
A |
11: 80,283,911 (GRCm39) |
M277K |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,732,623 (GRCm39) |
D641G |
probably benign |
Het |
|
Other mutations in Il1rap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |