Incidental Mutation 'R1996:Il1rap'
ID |
225787 |
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 |
040006-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1996 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26541243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 495
(T495S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093843
(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 |
probably benign
Transcript: ENSMUST00000096129
AA Change: T495S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: T495S
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: T495S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: T495S
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 |
unknown
Transcript: ENSMUST00000173136
AA Change: T20S
|
SMART Domains |
Protein: ENSMUSP00000133294 Gene: ENSMUSG00000022514 AA Change: T20S
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
|
Meta Mutation Damage Score |
0.0816 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
99% (84/85) |
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 |
A2m |
T |
A |
6: 121,646,556 (GRCm39) |
W1069R |
probably damaging |
Het |
Aaas |
C |
T |
15: 102,248,494 (GRCm39) |
V241I |
probably benign |
Het |
Abca3 |
A |
G |
17: 24,606,506 (GRCm39) |
E787G |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,491,720 (GRCm39) |
E582D |
possibly damaging |
Het |
Adam21 |
A |
G |
12: 81,606,376 (GRCm39) |
M462T |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,207,034 (GRCm39) |
T591A |
probably benign |
Het |
Ankmy2 |
T |
C |
12: 36,243,796 (GRCm39) |
M337T |
probably benign |
Het |
Antxrl |
A |
G |
14: 33,797,786 (GRCm39) |
N587S |
probably benign |
Het |
Apol6 |
T |
A |
15: 76,934,956 (GRCm39) |
I75N |
probably benign |
Het |
Atad2b |
A |
T |
12: 5,040,883 (GRCm39) |
H184L |
probably benign |
Het |
Atf6b |
A |
T |
17: 34,871,961 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
G |
A |
5: 123,649,402 (GRCm39) |
V256I |
probably damaging |
Het |
BC034090 |
C |
T |
1: 155,097,340 (GRCm39) |
|
probably benign |
Het |
Bend4 |
C |
A |
5: 67,557,527 (GRCm39) |
V430F |
probably damaging |
Het |
Camkv |
A |
G |
9: 107,824,320 (GRCm39) |
D244G |
probably damaging |
Het |
Caps2 |
T |
A |
10: 112,039,908 (GRCm39) |
L450Q |
probably damaging |
Het |
Ccr1 |
T |
A |
9: 123,763,551 (GRCm39) |
K326N |
probably benign |
Het |
Cep135 |
T |
C |
5: 76,780,113 (GRCm39) |
I815T |
probably benign |
Het |
Chchd4 |
A |
G |
6: 91,442,116 (GRCm39) |
Y101H |
probably damaging |
Het |
Copb1 |
G |
C |
7: 113,831,438 (GRCm39) |
A570G |
probably benign |
Het |
Cpsf2 |
C |
A |
12: 101,964,867 (GRCm39) |
T505K |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,417,947 (GRCm39) |
R136G |
probably benign |
Het |
Daxx |
A |
G |
17: 34,132,585 (GRCm39) |
T572A |
possibly damaging |
Het |
Etaa1 |
C |
A |
11: 17,902,671 (GRCm39) |
D89Y |
probably damaging |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Fchsd2 |
T |
C |
7: 100,927,660 (GRCm39) |
F701L |
probably benign |
Het |
Fstl5 |
A |
T |
3: 76,615,141 (GRCm39) |
H734L |
probably benign |
Het |
Gabbr1 |
T |
A |
17: 37,380,112 (GRCm39) |
W584R |
probably damaging |
Het |
Galc |
T |
C |
12: 98,218,285 (GRCm39) |
D189G |
probably damaging |
Het |
Gm9979 |
T |
C |
13: 40,859,228 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 136,021,209 (GRCm39) |
S31G |
possibly damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,405,740 (GRCm39) |
|
probably benign |
Het |
Hoxc4 |
T |
C |
15: 102,944,183 (GRCm39) |
I187T |
probably damaging |
Het |
Hsd3b6 |
A |
T |
3: 98,713,597 (GRCm39) |
I234N |
probably damaging |
Het |
Ifit3b |
T |
C |
19: 34,588,877 (GRCm39) |
C18R |
probably damaging |
Het |
Igdcc4 |
T |
A |
9: 65,029,101 (GRCm39) |
V246E |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,121,932 (GRCm39) |
E205G |
probably null |
Het |
Kif21a |
A |
T |
15: 90,878,574 (GRCm39) |
C235* |
probably null |
Het |
Krt16 |
A |
T |
11: 100,139,614 (GRCm39) |
S35T |
unknown |
Het |
Lamc2 |
T |
C |
1: 153,030,216 (GRCm39) |
D142G |
possibly damaging |
Het |
Larp4 |
G |
T |
15: 99,882,844 (GRCm39) |
W22L |
probably damaging |
Het |
Ldlrad1 |
C |
T |
4: 107,072,158 (GRCm39) |
R127* |
probably null |
Het |
Mamdc2 |
G |
A |
19: 23,341,289 (GRCm39) |
Q229* |
probably null |
Het |
Mbtd1 |
CT |
CTT |
11: 93,823,222 (GRCm39) |
|
probably null |
Het |
Msln |
T |
A |
17: 25,973,193 (GRCm39) |
M1L |
possibly damaging |
Het |
Mtch2 |
T |
C |
2: 90,677,665 (GRCm39) |
V8A |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,689,262 (GRCm39) |
N338K |
probably damaging |
Het |
Or10x4 |
T |
C |
1: 174,218,983 (GRCm39) |
M116T |
probably damaging |
Het |
Or51a39 |
A |
G |
7: 102,362,999 (GRCm39) |
L207P |
probably damaging |
Het |
Or6c5 |
C |
A |
10: 129,074,298 (GRCm39) |
N93K |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,578,381 (GRCm39) |
V89A |
probably benign |
Het |
Phka2 |
T |
C |
X: 159,324,411 (GRCm39) |
I255T |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,216,759 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
A |
17: 64,594,639 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
C |
T |
15: 89,042,971 (GRCm39) |
V1473I |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,091,679 (GRCm39) |
D363E |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,913,072 (GRCm39) |
Y207C |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,423,080 (GRCm39) |
V304E |
probably damaging |
Het |
Robo1 |
G |
T |
16: 72,767,067 (GRCm39) |
R413L |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,313,839 (GRCm39) |
E864K |
probably damaging |
Het |
Scap |
C |
T |
9: 110,202,039 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,922,260 (GRCm39) |
M1311K |
probably damaging |
Het |
Slc28a2 |
A |
T |
2: 122,286,043 (GRCm39) |
I460F |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,730 (GRCm39) |
R134G |
probably benign |
Het |
Spopfm1 |
A |
T |
3: 94,173,018 (GRCm39) |
M9L |
probably benign |
Het |
Sspo |
A |
G |
6: 48,452,424 (GRCm39) |
E2651G |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,838,895 (GRCm39) |
N57S |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,681,703 (GRCm39) |
Q2642H |
probably damaging |
Het |
Thsd7b |
G |
T |
1: 129,686,188 (GRCm39) |
E577* |
probably null |
Het |
Tlr3 |
A |
G |
8: 45,850,734 (GRCm39) |
V721A |
probably benign |
Het |
Tnik |
A |
G |
3: 28,719,829 (GRCm39) |
I1226V |
probably damaging |
Het |
Traf3 |
A |
G |
12: 111,227,095 (GRCm39) |
K328E |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,291,652 (GRCm39) |
|
probably benign |
Het |
Vmn1r213 |
T |
G |
13: 23,196,473 (GRCm39) |
V352G |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,767,062 (GRCm39) |
I812V |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,038,144 (GRCm39) |
N573S |
probably damaging |
Het |
Vmn2r45 |
G |
A |
7: 8,475,024 (GRCm39) |
T668I |
probably damaging |
Het |
Zbtb20 |
T |
A |
16: 43,430,443 (GRCm39) |
V318E |
probably damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,343,434 (GRCm39) |
R524G |
probably benign |
Het |
Zc3h18 |
C |
G |
8: 123,134,126 (GRCm39) |
|
probably benign |
Het |
Zfp618 |
T |
C |
4: 63,049,452 (GRCm39) |
|
probably null |
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 |
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'- GACAACTACCAGCTGGATATGG -3'
(R):5'- AACAGCTCTCATTCCAGCCG -3'
Sequencing Primer
(F):5'- GGATACATCATTACCAGATGCTATGC -3'
(R):5'- GGAGCCAGAATGTTTGGA -3'
|
Posted On |
2014-08-25 |