Incidental Mutation 'R0612:Il1rap'
ID |
54844 |
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 |
038801-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0612 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26519855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 307
(T307M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
AlphaFold |
Q61730 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023156
AA Change: T307M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514 AA Change: T307M
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: T307M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: T307M
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: T307M
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: T307M
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: 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 |
possibly damaging
Transcript: ENSMUST00000174202
AA Change: T307M
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134202 Gene: ENSMUSG00000022514 AA Change: T307M
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.5%
|
Validation Efficiency |
98% (92/94) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,936,478 (GRCm39) |
L181P |
probably damaging |
Het |
Aldh3a1 |
A |
T |
11: 61,105,445 (GRCm39) |
I184F |
probably damaging |
Het |
Arl6ip4 |
A |
G |
5: 124,254,596 (GRCm39) |
S30G |
probably benign |
Het |
Atp9b |
T |
C |
18: 80,797,171 (GRCm39) |
E891G |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,710,425 (GRCm39) |
L478P |
possibly damaging |
Het |
Btaf1 |
G |
A |
19: 36,946,537 (GRCm39) |
V448I |
probably damaging |
Het |
Cab39 |
T |
C |
1: 85,746,236 (GRCm39) |
|
probably null |
Het |
Cacna2d4 |
G |
T |
6: 119,258,679 (GRCm39) |
|
probably benign |
Het |
Capzb |
C |
T |
4: 139,018,340 (GRCm39) |
S253L |
probably benign |
Het |
Ccdc174 |
A |
G |
6: 91,867,873 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
C |
T |
4: 45,927,969 (GRCm39) |
A1168V |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,820,900 (GRCm39) |
|
probably benign |
Het |
Cdh8 |
T |
C |
8: 100,127,546 (GRCm39) |
T22A |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,957,419 (GRCm39) |
V181A |
probably benign |
Het |
Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
Cftr |
A |
C |
6: 18,198,125 (GRCm39) |
T20P |
probably benign |
Het |
Cip2a |
C |
T |
16: 48,819,402 (GRCm39) |
A112V |
probably benign |
Het |
Clstn3 |
T |
C |
6: 124,426,459 (GRCm39) |
T576A |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,516,003 (GRCm39) |
V165I |
unknown |
Het |
Copg2 |
A |
T |
6: 30,838,404 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
G |
1: 67,178,929 (GRCm39) |
H47R |
probably benign |
Het |
Cytip |
T |
C |
2: 58,024,202 (GRCm39) |
D206G |
possibly damaging |
Het |
Dcaf8l |
G |
A |
X: 88,448,972 (GRCm39) |
R386* |
probably null |
Het |
Dnmt1 |
C |
T |
9: 20,829,489 (GRCm39) |
E824K |
probably damaging |
Het |
Dock7 |
A |
C |
4: 98,877,470 (GRCm39) |
V442G |
probably benign |
Het |
Dsc1 |
T |
G |
18: 20,247,573 (GRCm39) |
K14T |
probably damaging |
Het |
Dync1h1 |
C |
T |
12: 110,582,930 (GRCm39) |
P371L |
probably damaging |
Het |
Enah |
A |
G |
1: 181,734,013 (GRCm39) |
|
probably benign |
Het |
Entrep2 |
C |
T |
7: 64,411,549 (GRCm39) |
V395M |
probably benign |
Het |
Fastkd1 |
T |
C |
2: 69,542,727 (GRCm39) |
T27A |
probably benign |
Het |
Fcho1 |
A |
G |
8: 72,168,168 (GRCm39) |
L248P |
probably damaging |
Het |
Fezf1 |
A |
T |
6: 23,247,028 (GRCm39) |
V268D |
probably damaging |
Het |
Fgd2 |
T |
A |
17: 29,597,321 (GRCm39) |
V547E |
probably benign |
Het |
Flnb |
T |
A |
14: 7,887,682 (GRCm38) |
|
probably benign |
Het |
Gabrg3 |
A |
G |
7: 56,379,454 (GRCm39) |
M316T |
probably damaging |
Het |
Gigyf2 |
T |
C |
1: 87,376,802 (GRCm39) |
F1265L |
probably damaging |
Het |
Git2 |
A |
G |
5: 114,890,342 (GRCm39) |
S271P |
probably damaging |
Het |
Gorab |
T |
C |
1: 163,224,738 (GRCm39) |
D21G |
possibly damaging |
Het |
Gpr179 |
T |
A |
11: 97,229,264 (GRCm39) |
T964S |
possibly damaging |
Het |
Hdac5 |
A |
G |
11: 102,087,078 (GRCm39) |
V1042A |
possibly damaging |
Het |
Hoxa2 |
T |
A |
6: 52,140,540 (GRCm39) |
T149S |
probably damaging |
Het |
Igsf8 |
G |
T |
1: 172,146,974 (GRCm39) |
*108L |
probably null |
Het |
Itih2 |
T |
C |
2: 10,122,205 (GRCm39) |
D232G |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,136,021 (GRCm39) |
Y607C |
probably damaging |
Het |
Kcnh1 |
C |
T |
1: 191,959,361 (GRCm39) |
P305L |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
Lrrn2 |
T |
C |
1: 132,865,466 (GRCm39) |
L177P |
probably damaging |
Het |
Lypd8l |
A |
G |
11: 58,502,799 (GRCm39) |
|
probably null |
Het |
Map4k3 |
C |
A |
17: 80,909,622 (GRCm39) |
K712N |
probably damaging |
Het |
Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
Mmp14 |
A |
G |
14: 54,677,891 (GRCm39) |
D504G |
probably damaging |
Het |
Mob1a |
A |
G |
6: 83,311,140 (GRCm39) |
T120A |
probably benign |
Het |
Mr1 |
T |
A |
1: 155,013,436 (GRCm39) |
D47V |
probably damaging |
Het |
Nacad |
G |
T |
11: 6,551,382 (GRCm39) |
A603E |
possibly damaging |
Het |
Nwd1 |
T |
A |
8: 73,394,308 (GRCm39) |
W524R |
probably damaging |
Het |
Or11g26 |
A |
T |
14: 50,752,939 (GRCm39) |
T93S |
probably benign |
Het |
Or13a19 |
T |
A |
7: 139,903,101 (GRCm39) |
M163K |
possibly damaging |
Het |
Or4e1 |
T |
C |
14: 52,701,008 (GRCm39) |
T153A |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pde6c |
T |
A |
19: 38,121,694 (GRCm39) |
C101S |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pdlim4 |
G |
A |
11: 53,959,713 (GRCm39) |
R16C |
probably damaging |
Het |
Pfkp |
A |
G |
13: 6,655,670 (GRCm39) |
|
probably null |
Het |
Plcg2 |
T |
A |
8: 118,300,104 (GRCm39) |
S225T |
probably benign |
Het |
Pramel1 |
T |
C |
4: 143,124,101 (GRCm39) |
S259P |
probably damaging |
Het |
Pramel27 |
G |
T |
4: 143,578,658 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
T |
C |
2: 37,301,227 (GRCm39) |
N92D |
possibly damaging |
Het |
Ric8b |
C |
A |
10: 84,837,745 (GRCm39) |
N517K |
probably damaging |
Het |
Rnf34 |
G |
A |
5: 123,002,237 (GRCm39) |
R65H |
probably damaging |
Het |
Rraga |
C |
T |
4: 86,494,564 (GRCm39) |
R137C |
probably damaging |
Het |
Scube2 |
C |
T |
7: 109,403,971 (GRCm39) |
|
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,352,179 (GRCm39) |
M339T |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,875,787 (GRCm39) |
I583V |
probably benign |
Het |
Suox |
T |
C |
10: 128,506,525 (GRCm39) |
E501G |
probably benign |
Het |
Susd1 |
A |
G |
4: 59,390,561 (GRCm39) |
|
probably benign |
Het |
Tac1 |
T |
C |
6: 7,555,653 (GRCm39) |
S14P |
probably damaging |
Het |
Tbc1d8 |
T |
C |
1: 39,411,596 (GRCm39) |
E1080G |
possibly damaging |
Het |
Tll1 |
A |
C |
8: 64,524,344 (GRCm39) |
S447R |
possibly damaging |
Het |
Tmem132e |
G |
A |
11: 82,334,198 (GRCm39) |
V662M |
probably damaging |
Het |
Upf2 |
G |
T |
2: 6,038,909 (GRCm39) |
|
probably benign |
Het |
Uspl1 |
A |
G |
5: 149,151,767 (GRCm39) |
E989G |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,413,618 (GRCm39) |
H204R |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,481 (GRCm39) |
C367S |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,623,803 (GRCm39) |
Q1240L |
probably benign |
Het |
Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
T |
G |
16: 20,005,175 (GRCm39) |
V385G |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCAGCCTTCCAAGTATTCCCG -3'
(R):5'- CCGTGAGAGTTCACAGAGTCATCG -3'
Sequencing Primer
(F):5'- agcattaaatgacaaaacatgcag -3'
(R):5'- TTCACAGAGTCATCGGCTCG -3'
|
Posted On |
2013-07-11 |