Incidental Mutation 'R6249:Il1rap'
| ID |
505880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rap
|
| Ensembl Gene |
ENSMUSG00000022514 |
| Gene Name |
interleukin 1 receptor accessory protein |
| Synonyms |
IL-1RAcP, 6430709H04Rik, IL-1R AcP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26511598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023156
AA Change: V214A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: V214A
| 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: V214A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: V214A
| 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: V214A
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: V214A
| 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: ENSMUST00000174171
AA Change: V214A
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: V214A
| 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: V214A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: V214A
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,702,505 (GRCm39) |
S90C |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,036,453 (GRCm39) |
D552G |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,471,639 (GRCm39) |
L502P |
probably damaging |
Het |
| Agmo |
T |
C |
12: 37,293,837 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
G |
10: 69,658,906 (GRCm39) |
|
probably null |
Het |
| Apol11b |
G |
T |
15: 77,519,537 (GRCm39) |
T181K |
probably benign |
Het |
| Arap2 |
G |
T |
5: 62,803,536 (GRCm39) |
H1244N |
probably damaging |
Het |
| Arid1b |
A |
T |
17: 5,329,636 (GRCm39) |
M838L |
possibly damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,816 (GRCm39) |
V19I |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,306 (GRCm39) |
M354K |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,692,711 (GRCm39) |
M381K |
possibly damaging |
Het |
| Ccdc63 |
A |
C |
5: 122,263,062 (GRCm39) |
L160W |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,199,122 (GRCm39) |
L156P |
probably damaging |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddb1 |
C |
A |
19: 10,583,084 (GRCm39) |
Y5* |
probably null |
Het |
| Fignl2 |
T |
C |
15: 100,952,060 (GRCm39) |
E74G |
possibly damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,676,850 (GRCm39) |
|
probably benign |
Het |
| Gm16503 |
A |
G |
4: 147,625,508 (GRCm39) |
M1V |
probably null |
Het |
| Gm2696 |
A |
C |
10: 77,630,646 (GRCm39) |
|
probably benign |
Het |
| Gm45844 |
A |
G |
7: 7,243,092 (GRCm39) |
S20P |
probably benign |
Het |
| Gm7579 |
C |
T |
7: 141,765,743 (GRCm39) |
P50S |
unknown |
Het |
| Idh1 |
A |
G |
1: 65,205,378 (GRCm39) |
S196P |
probably damaging |
Het |
| Kctd17 |
C |
G |
15: 78,314,239 (GRCm39) |
|
probably null |
Het |
| Lama1 |
G |
T |
17: 68,105,599 (GRCm39) |
V2036L |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,390,271 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,708,484 (GRCm39) |
V1670E |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,524 (GRCm39) |
I266N |
probably damaging |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
T |
C |
1: 125,952,667 (GRCm39) |
E1295G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,566,910 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,874,238 (GRCm39) |
L284F |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,384,725 (GRCm39) |
N303Y |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,818 (GRCm39) |
S140C |
possibly damaging |
Het |
| Or5h22 |
T |
C |
16: 58,894,795 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,880 (GRCm39) |
I305R |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,086,729 (GRCm39) |
V304E |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,147,008 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
A |
T |
14: 70,297,099 (GRCm39) |
T213S |
possibly damaging |
Het |
| Phf2 |
C |
A |
13: 48,959,348 (GRCm39) |
R886L |
unknown |
Het |
| Pik3ca |
A |
T |
3: 32,515,712 (GRCm39) |
H795L |
probably damaging |
Het |
| Pisd |
G |
T |
5: 32,896,188 (GRCm39) |
T379N |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,446,196 (GRCm39) |
L732P |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,639,617 (GRCm39) |
D99G |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,071 (GRCm39) |
T497A |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,543,530 (GRCm39) |
T108M |
possibly damaging |
Het |
| Rtel1 |
C |
T |
2: 180,993,475 (GRCm39) |
R566C |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,493,719 (GRCm39) |
S350P |
possibly damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,564,302 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,779,009 (GRCm39) |
I674T |
probably benign |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| Surf4 |
C |
A |
2: 26,816,899 (GRCm39) |
E39D |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,192,291 (GRCm39) |
Y10* |
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,911,215 (GRCm39) |
G323R |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,399,006 (GRCm38) |
Y542C |
probably damaging |
Het |
| Trim61 |
A |
G |
8: 65,467,108 (GRCm39) |
V51A |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,769,009 (GRCm39) |
I501N |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,382,869 (GRCm39) |
D32N |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,864,383 (GRCm39) |
Y411C |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,242,365 (GRCm39) |
V490I |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,266,528 (GRCm39) |
A849S |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,979,815 (GRCm39) |
N599K |
possibly damaging |
Het |
| Zbtb38 |
T |
A |
9: 96,568,045 (GRCm39) |
Y1013F |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,903 (GRCm39) |
S418G |
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 |
|
|
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'- AGATGCAAAAGCCTCCTTTTAC -3'
(R):5'- CAGTTTACATGGACCTGCTTTTG -3'
Sequencing Primer
(F):5'- GATGCAAAAGCCTCCTTTTACTTGTG -3'
(R):5'- ACATGGACCTGCTTTTGGACTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation