Incidental Mutation 'R4834:Il1rap'
ID |
373106 |
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 |
041977-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4834 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26495685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 97
(D97E)
|
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: D97E
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514 AA Change: D97E
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: D97E
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: D97E
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: D97E
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: D97E
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: D97E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133904 Gene: ENSMUSG00000022514 AA Change: D97E
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: D97E
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134202 Gene: ENSMUSG00000022514 AA Change: D97E
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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
C |
9: 53,343,787 (GRCm39) |
D146A |
possibly damaging |
Het |
Acsl5 |
C |
A |
19: 55,268,991 (GRCm39) |
D217E |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,920,666 (GRCm39) |
|
probably null |
Het |
Adam24 |
G |
A |
8: 41,132,738 (GRCm39) |
G69R |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,553,232 (GRCm39) |
W622R |
probably damaging |
Het |
Ajm1 |
T |
C |
2: 25,469,530 (GRCm39) |
E127G |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,500,679 (GRCm39) |
M931V |
probably benign |
Het |
Ano8 |
C |
T |
8: 71,936,939 (GRCm39) |
V187M |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,555,560 (GRCm39) |
C348S |
probably damaging |
Het |
Apob |
T |
C |
12: 8,064,101 (GRCm39) |
V376A |
possibly damaging |
Het |
Arhgap21 |
A |
T |
2: 20,870,130 (GRCm39) |
D925E |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,669,817 (GRCm39) |
V367E |
probably damaging |
Het |
Bmp8b |
A |
T |
4: 123,016,843 (GRCm39) |
Q348L |
probably damaging |
Het |
Ccr1l1 |
T |
C |
9: 123,777,742 (GRCm39) |
K235R |
probably damaging |
Het |
Cd59a |
G |
A |
2: 103,944,431 (GRCm39) |
C93Y |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,408,912 (GRCm39) |
|
probably null |
Het |
Col4a2 |
C |
A |
8: 11,456,836 (GRCm39) |
Y236* |
probably null |
Het |
Csn1s2a |
T |
C |
5: 87,929,637 (GRCm39) |
F79L |
probably benign |
Het |
Cyp4a10 |
A |
C |
4: 115,383,005 (GRCm39) |
Y360S |
probably damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,106,867 (GRCm39) |
I175F |
probably benign |
Het |
Dck |
T |
A |
5: 88,920,595 (GRCm39) |
I105N |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,662,850 (GRCm39) |
L1577P |
probably benign |
Het |
Disp2 |
G |
A |
2: 118,622,985 (GRCm39) |
S1239N |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,536,892 (GRCm39) |
M1T |
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,690,317 (GRCm39) |
C50* |
probably null |
Het |
Elf2 |
A |
T |
3: 51,184,642 (GRCm39) |
D14E |
probably damaging |
Het |
Epm2aip1 |
C |
T |
9: 111,102,262 (GRCm39) |
R412C |
probably benign |
Het |
Foxm1 |
T |
C |
6: 128,346,410 (GRCm39) |
F114L |
probably damaging |
Het |
Glcci1 |
C |
T |
6: 8,582,601 (GRCm39) |
R134* |
probably null |
Het |
Gm57859 |
C |
A |
11: 113,579,805 (GRCm39) |
T400K |
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,040,581 (GRCm39) |
K576E |
probably damaging |
Het |
H2-M10.3 |
T |
C |
17: 36,678,286 (GRCm39) |
K180E |
probably benign |
Het |
Hecw2 |
A |
T |
1: 53,869,911 (GRCm39) |
V1439E |
probably damaging |
Het |
Hr |
T |
C |
14: 70,797,362 (GRCm39) |
S561P |
probably damaging |
Het |
Hunk |
T |
C |
16: 90,293,086 (GRCm39) |
V456A |
probably benign |
Het |
Inpp5d |
T |
G |
1: 87,625,245 (GRCm39) |
V474G |
possibly damaging |
Het |
Itsn1 |
T |
A |
16: 91,703,677 (GRCm39) |
L87* |
probably null |
Het |
Izumo3 |
T |
C |
4: 92,035,208 (GRCm39) |
D3G |
possibly damaging |
Het |
Kifc2 |
T |
A |
15: 76,545,511 (GRCm39) |
M1K |
probably null |
Het |
Krt8 |
T |
A |
15: 101,907,256 (GRCm39) |
I276F |
probably damaging |
Het |
Ksr2 |
C |
A |
5: 117,806,392 (GRCm39) |
Q402K |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,882,745 (GRCm39) |
V2606A |
probably benign |
Het |
Met |
A |
G |
6: 17,491,412 (GRCm39) |
H58R |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,851,643 (GRCm39) |
Q542* |
probably null |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Msl3l2 |
C |
T |
10: 55,991,655 (GRCm39) |
R127C |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,967,814 (GRCm39) |
L588P |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,437,123 (GRCm39) |
L2013P |
probably damaging |
Het |
Nid1 |
A |
G |
13: 13,683,408 (GRCm39) |
Y1162C |
probably damaging |
Het |
Nlrc5 |
G |
T |
8: 95,232,113 (GRCm39) |
R1313L |
probably benign |
Het |
Nrg1 |
A |
G |
8: 32,407,747 (GRCm39) |
V162A |
probably benign |
Het |
Nup188 |
T |
C |
2: 30,229,596 (GRCm39) |
L1310P |
probably damaging |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or14a259 |
G |
A |
7: 86,012,952 (GRCm39) |
L198F |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,839,276 (GRCm39) |
L85P |
probably damaging |
Het |
Or5ae1 |
T |
G |
7: 84,565,491 (GRCm39) |
F168C |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,052,733 (GRCm39) |
L192* |
probably null |
Het |
Pcdhga4 |
T |
C |
18: 37,818,490 (GRCm39) |
I13T |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,754,294 (GRCm39) |
|
probably benign |
Het |
Polq |
T |
A |
16: 36,848,176 (GRCm39) |
V261D |
probably damaging |
Het |
Ppp2r5b |
T |
A |
19: 6,280,540 (GRCm39) |
T313S |
possibly damaging |
Het |
Ptk2 |
A |
T |
15: 73,087,945 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
T |
A |
1: 135,065,618 (GRCm39) |
|
probably null |
Het |
Rab11fip1 |
A |
G |
8: 27,643,111 (GRCm39) |
S563P |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,158,866 (GRCm39) |
C351* |
probably null |
Het |
Slc10a5 |
A |
T |
3: 10,399,859 (GRCm39) |
V267D |
probably damaging |
Het |
Slc37a2 |
T |
A |
9: 37,146,404 (GRCm39) |
M368L |
probably damaging |
Het |
Slc49a4 |
T |
A |
16: 35,555,945 (GRCm39) |
T172S |
probably benign |
Het |
Slc6a20b |
T |
A |
9: 123,425,113 (GRCm39) |
T585S |
probably benign |
Het |
Srcap |
T |
C |
7: 127,156,782 (GRCm39) |
|
probably null |
Het |
Tbx18 |
T |
C |
9: 87,609,502 (GRCm39) |
M178V |
possibly damaging |
Het |
Tmprss11b |
C |
A |
5: 86,811,418 (GRCm39) |
C172F |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,751,198 (GRCm39) |
Q91R |
probably benign |
Het |
Trappc8 |
A |
T |
18: 20,958,122 (GRCm39) |
Y1248N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,966,747 (GRCm39) |
L539S |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,764,833 (GRCm39) |
Y3* |
probably null |
Het |
Ubr7 |
A |
T |
12: 102,727,761 (GRCm39) |
K94N |
probably damaging |
Het |
Ugt2a1 |
C |
A |
5: 87,633,894 (GRCm39) |
|
probably null |
Het |
Unc50 |
T |
A |
1: 37,471,710 (GRCm39) |
I120K |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,912,836 (GRCm39) |
V29A |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,317,002 (GRCm39) |
I1849T |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,898,203 (GRCm39) |
V406E |
probably damaging |
Het |
Vmn2r4 |
G |
A |
3: 64,317,484 (GRCm39) |
R85W |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,750 (GRCm39) |
D2997G |
probably benign |
Het |
Zc2hc1c |
A |
T |
12: 85,336,982 (GRCm39) |
E213V |
probably damaging |
Het |
Zfp420 |
C |
T |
7: 29,573,759 (GRCm39) |
|
probably benign |
Het |
Zfp641 |
C |
T |
15: 98,191,585 (GRCm39) |
E34K |
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 |
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 |
|
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'- GGGACTAGATACCATGCGAC -3'
(R):5'- TTCAGCTAGGTCATTGAGGC -3'
Sequencing Primer
(F):5'- CCATGCGACAAATCCAAGTGTTTG -3'
(R):5'- GTCATTGAGGCAAAGTATAACCC -3'
|
Posted On |
2016-03-01 |