Incidental Mutation 'R2122:Il1rap'
| ID |
229609 |
| 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 |
040126-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2122 (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 26529315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 379
(H379L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023156
AA Change: H379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: H379L
| 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: H379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: H379L
| 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: H379L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: H379L
| 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 |
silent
Transcript: ENSMUST00000174171
|
| SMART Domains |
Protein: ENSMUSP00000133904
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 |
|
Blast:IG
|
251 |
312 |
1e-28 |
BLAST |
|
low complexity region
|
316 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174385
|
| Meta Mutation Damage Score |
0.3405 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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 |
|---|
| Abca16 |
G |
T |
7: 120,119,184 (GRCm39) |
G975V |
probably damaging |
Het |
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Actl10 |
G |
A |
2: 154,394,153 (GRCm39) |
R35H |
probably damaging |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Ahctf1 |
C |
A |
1: 179,597,017 (GRCm39) |
R43L |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Arhgef7 |
A |
T |
8: 11,778,256 (GRCm39) |
N2I |
possibly damaging |
Het |
| Blvra |
T |
G |
2: 126,928,817 (GRCm39) |
S102A |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,645,691 (GRCm39) |
L226P |
probably damaging |
Het |
| C2cd4d |
G |
T |
3: 94,270,925 (GRCm39) |
E64* |
probably null |
Het |
| Ccna2 |
A |
G |
3: 36,622,875 (GRCm39) |
V209A |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,387,354 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cdh2 |
G |
A |
18: 16,907,600 (GRCm39) |
P46L |
probably benign |
Het |
| Cldn11 |
A |
G |
3: 31,217,300 (GRCm39) |
Y156C |
probably damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,655 (GRCm39) |
R12G |
possibly damaging |
Het |
| Cog2 |
T |
C |
8: 125,255,724 (GRCm39) |
S104P |
possibly damaging |
Het |
| Col4a3 |
T |
G |
1: 82,632,678 (GRCm39) |
F184V |
unknown |
Het |
| Col4a4 |
T |
A |
1: 82,434,592 (GRCm39) |
D1406V |
unknown |
Het |
| Col6a1 |
T |
C |
10: 76,557,332 (GRCm39) |
T207A |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,286,274 (GRCm39) |
V1063E |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,761,188 (GRCm39) |
Y44* |
probably null |
Het |
| Ep400 |
A |
T |
5: 110,856,716 (GRCm39) |
|
probably benign |
Het |
| Exoc6b |
A |
G |
6: 84,598,464 (GRCm39) |
M779T |
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Fscn3 |
A |
G |
6: 28,430,388 (GRCm39) |
D186G |
probably benign |
Het |
| Gm5773 |
G |
A |
3: 93,680,624 (GRCm39) |
G99R |
possibly damaging |
Het |
| Grk1 |
A |
T |
8: 13,455,221 (GRCm39) |
Y35F |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,044,121 (GRCm39) |
S567P |
probably damaging |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Krtap5-5 |
A |
T |
7: 141,783,240 (GRCm39) |
C137S |
unknown |
Het |
| Lrp2 |
T |
C |
2: 69,314,051 (GRCm39) |
T2227A |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,129,927 (GRCm39) |
Y248N |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,647 (GRCm39) |
K417E |
possibly damaging |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,868 (GRCm39) |
E1027G |
probably damaging |
Het |
| Nudt6 |
A |
C |
3: 37,466,554 (GRCm39) |
F80L |
probably benign |
Het |
| Nxph1 |
A |
G |
6: 9,247,791 (GRCm39) |
K254R |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,470,527 (GRCm39) |
R1043H |
probably benign |
Het |
| Or10a4 |
A |
T |
7: 106,697,316 (GRCm39) |
I215F |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,304 (GRCm39) |
I1065F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,721,874 (GRCm39) |
N317K |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reg3a |
T |
C |
6: 78,358,119 (GRCm39) |
C17R |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,897,701 (GRCm39) |
S800G |
probably damaging |
Het |
| Rnf168 |
T |
G |
16: 32,097,036 (GRCm39) |
L37R |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,833,654 (GRCm39) |
D554G |
probably damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,449,765 (GRCm39) |
Q3937L |
probably damaging |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Slc20a1 |
T |
G |
2: 129,041,739 (GRCm39) |
I34S |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,658 (GRCm39) |
S116P |
possibly damaging |
Het |
| Speer4c1 |
T |
A |
5: 15,919,115 (GRCm39) |
D29V |
possibly damaging |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Susd3 |
A |
G |
13: 49,384,626 (GRCm39) |
Y254H |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,786,775 (GRCm39) |
L858P |
probably damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tfpt |
C |
T |
7: 3,631,930 (GRCm39) |
R60Q |
probably damaging |
Het |
| Tmem44 |
T |
A |
16: 30,366,262 (GRCm39) |
K55* |
probably null |
Het |
| Tnfsf9 |
A |
T |
17: 57,414,316 (GRCm39) |
|
probably null |
Het |
| Ube3c |
T |
C |
5: 29,824,604 (GRCm39) |
I543T |
probably benign |
Het |
| Ugt1a2 |
C |
A |
1: 88,128,735 (GRCm39) |
S126Y |
possibly damaging |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,566 (GRCm39) |
L243Q |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,434,322 (GRCm39) |
V794G |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,353 (GRCm39) |
D560G |
possibly damaging |
Het |
| Wdr11 |
G |
A |
7: 129,233,490 (GRCm39) |
C1028Y |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,297 (GRCm39) |
D2100G |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,655,991 (GRCm39) |
Y789* |
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 |
|
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 |
|
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'- TAAACTTAGCTGCATGGCTGATCC -3'
(R):5'- CAGTGTACTTTGGAAAGACTTCTTC -3'
Sequencing Primer
(F):5'- TCCAGCCATTAAGAATATGGTTGGG -3'
(R):5'- AGACTTCTTCTTAGTAGGATTAGCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation