Incidental Mutation 'R6254:Il1rap'
ID |
506022 |
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 |
044371-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26514020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 251
(R251H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
AlphaFold |
Q61730 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023156
AA Change: R251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023156 Gene: ENSMUSG00000022514 AA Change: R251H
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: R251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093843 Gene: ENSMUSG00000022514 AA Change: R251H
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: R251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128100 Gene: ENSMUSG00000022514 AA Change: R251H
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
AA Change: R251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133904 Gene: ENSMUSG00000022514 AA Change: R251H
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: R251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134202 Gene: ENSMUSG00000022514 AA Change: R251H
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.4%
|
Validation Efficiency |
100% (82/82) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,453,190 (GRCm39) |
L2F |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,735,453 (GRCm39) |
|
probably benign |
Het |
Anpep |
T |
G |
7: 79,488,981 (GRCm39) |
D369A |
probably damaging |
Het |
App |
T |
C |
16: 84,775,065 (GRCm39) |
E599G |
probably damaging |
Het |
Asphd1 |
C |
T |
7: 126,548,040 (GRCm39) |
V88I |
probably benign |
Het |
Atad5 |
A |
T |
11: 80,018,215 (GRCm39) |
I1389F |
probably damaging |
Het |
Blm |
T |
C |
7: 80,130,090 (GRCm39) |
N950S |
probably benign |
Het |
Bsn |
A |
T |
9: 107,989,065 (GRCm39) |
M2229K |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,386,415 (GRCm39) |
M181V |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,329,162 (GRCm39) |
|
probably null |
Het |
Cdh1 |
T |
A |
8: 107,390,430 (GRCm39) |
V590D |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,282,269 (GRCm39) |
T160M |
probably damaging |
Het |
Cfap97d2 |
A |
G |
8: 13,756,043 (GRCm39) |
D26G |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,682,128 (GRCm39) |
I156T |
probably damaging |
Het |
Chrna5 |
A |
G |
9: 54,913,740 (GRCm39) |
M325V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,507,895 (GRCm39) |
I116T |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 43,993,902 (GRCm39) |
K488R |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,467,848 (GRCm39) |
I451N |
probably damaging |
Het |
Exph5 |
T |
G |
9: 53,284,010 (GRCm39) |
S364A |
possibly damaging |
Het |
Fam98c |
A |
G |
7: 28,853,942 (GRCm39) |
S209P |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,907,441 (GRCm39) |
L2854F |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,638,571 (GRCm39) |
|
probably null |
Het |
Fermt2 |
T |
C |
14: 45,713,516 (GRCm39) |
D205G |
probably damaging |
Het |
Fmnl1 |
G |
A |
11: 103,087,141 (GRCm39) |
|
probably benign |
Het |
Fn3k |
A |
G |
11: 121,325,894 (GRCm39) |
E27G |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,815,098 (GRCm39) |
H378R |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,938,045 (GRCm39) |
K140E |
possibly damaging |
Het |
Gm7694 |
A |
T |
1: 170,130,103 (GRCm39) |
C98* |
probably null |
Het |
Golgb1 |
T |
C |
16: 36,734,340 (GRCm39) |
S1196P |
probably damaging |
Het |
Gpm6a |
G |
A |
8: 55,500,431 (GRCm39) |
|
probably null |
Het |
Hltf |
T |
A |
3: 20,117,993 (GRCm39) |
N80K |
possibly damaging |
Het |
Ipo7 |
T |
A |
7: 109,648,267 (GRCm39) |
D688E |
probably benign |
Het |
Itgal |
T |
A |
7: 126,924,375 (GRCm39) |
N897K |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,674,982 (GRCm39) |
|
probably null |
Het |
Kcnk13 |
A |
G |
12: 99,931,631 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,147,203 (GRCm39) |
L248P |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,554,872 (GRCm39) |
E1254G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,325,912 (GRCm39) |
|
probably benign |
Het |
Lingo1 |
T |
A |
9: 56,527,371 (GRCm39) |
D406V |
possibly damaging |
Het |
Lratd2 |
A |
G |
15: 60,695,650 (GRCm39) |
I32T |
probably damaging |
Het |
Lrriq1 |
A |
T |
10: 103,051,312 (GRCm39) |
V480E |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,665,129 (GRCm39) |
R1142H |
probably benign |
Het |
Mtmr3 |
G |
A |
11: 4,447,381 (GRCm39) |
Q360* |
probably null |
Het |
Muc6 |
T |
C |
7: 141,237,380 (GRCm39) |
N252S |
probably benign |
Het |
Naa20 |
T |
C |
2: 145,745,240 (GRCm39) |
L4P |
probably damaging |
Het |
Neb |
T |
A |
2: 52,112,973 (GRCm39) |
I4274L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,457,516 (GRCm39) |
F130I |
probably benign |
Het |
Nrg4 |
G |
T |
9: 55,143,796 (GRCm39) |
H87N |
possibly damaging |
Het |
Or51ai2 |
T |
A |
7: 103,586,741 (GRCm39) |
H51Q |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,849 (GRCm39) |
Y183F |
probably damaging |
Het |
P3h3 |
C |
T |
6: 124,822,564 (GRCm39) |
E536K |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,554,771 (GRCm39) |
S34P |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,825,914 (GRCm39) |
T71A |
possibly damaging |
Het |
Plaur |
T |
A |
7: 24,166,225 (GRCm39) |
C99S |
possibly damaging |
Het |
Plekha5 |
G |
A |
6: 140,532,162 (GRCm39) |
G501E |
probably damaging |
Het |
Plxnd1 |
C |
T |
6: 115,954,921 (GRCm39) |
V614M |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,025,786 (GRCm39) |
D307G |
possibly damaging |
Het |
Prl3d3 |
C |
T |
13: 27,341,453 (GRCm39) |
S28F |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,883,568 (GRCm39) |
Q832H |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,620,435 (GRCm39) |
S126G |
probably benign |
Het |
Rab3ip |
A |
T |
10: 116,751,772 (GRCm39) |
C332S |
probably damaging |
Het |
Raly |
C |
A |
2: 154,699,286 (GRCm39) |
T30K |
probably damaging |
Het |
Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,594,535 (GRCm39) |
M159I |
possibly damaging |
Het |
Rufy3 |
C |
T |
5: 88,732,168 (GRCm39) |
T57I |
probably benign |
Het |
Samd4 |
A |
G |
14: 47,254,088 (GRCm39) |
D184G |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,047,833 (GRCm39) |
C58R |
possibly damaging |
Het |
Smarca4 |
T |
C |
9: 21,611,173 (GRCm39) |
I1467T |
probably damaging |
Het |
Spag17 |
T |
G |
3: 99,972,901 (GRCm39) |
I1371S |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,897,561 (GRCm39) |
L1228P |
possibly damaging |
Het |
Stk31 |
C |
T |
6: 49,398,631 (GRCm39) |
A344V |
probably benign |
Het |
Supt16 |
A |
G |
14: 52,408,291 (GRCm39) |
W885R |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 111,992,334 (GRCm39) |
|
probably null |
Het |
Tmod1 |
A |
G |
4: 46,078,469 (GRCm39) |
|
probably null |
Het |
Tnfsf13 |
A |
C |
11: 69,575,309 (GRCm39) |
|
probably null |
Het |
Trim75 |
C |
A |
8: 65,436,094 (GRCm39) |
E119* |
probably null |
Het |
Wdr6 |
T |
C |
9: 108,452,110 (GRCm39) |
Y591C |
probably damaging |
Het |
Wdr86 |
C |
T |
5: 24,923,281 (GRCm39) |
R137H |
probably benign |
Het |
Ythdf1 |
T |
A |
2: 180,552,943 (GRCm39) |
Y424F |
probably damaging |
Het |
Zfp984 |
G |
T |
4: 147,840,643 (GRCm39) |
S69R |
possibly damaging |
Het |
Zyg11a |
A |
G |
4: 108,038,991 (GRCm39) |
F743L |
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 |
|
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 |
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'- GCACTAAGTAATAGCGATGAATGC -3'
(R):5'- GCATTGCTGGTCCTTACGTG -3'
Sequencing Primer
(F):5'- TGCATGAAGTCCAGGAATTGAG -3'
(R):5'- CTGGTCCTTACGTGCTGTAGC -3'
|
Posted On |
2018-02-28 |