Incidental Mutation 'IGL00976:Il1rap'
| ID |
29198 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26517589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
[ENSMUST00000174202]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023156
AA Change: V263A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: V263A
| 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: V263A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: V263A
| 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: V263A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: V263A
| 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: V263A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133904
Gene: ENSMUSG00000022514
AA Change: V263A
| 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: V263A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134202
Gene: ENSMUSG00000022514
AA Change: V263A
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
| Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
| Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
| Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
| Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
| Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
| Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
| Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
| Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
| Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation