Incidental Mutation 'R4133:Il1rap'
| ID |
314774 |
| 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 |
041637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4133 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26541636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 626
(S626G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096129]
[ENSMUST00000166294]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096129
AA Change: S626G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: S626G
| 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: S626G
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: S626G
| 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 |
unknown
Transcript: ENSMUST00000173136
AA Change: S151G
|
| SMART Domains |
Protein: ENSMUSP00000133294
Gene: ENSMUSG00000022514
AA Change: S151G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TIR
|
2 |
154 |
3e-48 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174644
|
| Meta Mutation Damage Score |
0.0765 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (77/79) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700036A12Rik |
T |
A |
9: 60,677,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh3b1 |
A |
G |
19: 3,970,808 (GRCm39) |
I184T |
probably damaging |
Het |
| Arhgap42 |
C |
T |
9: 9,011,300 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,185 (GRCm39) |
D1463G |
probably damaging |
Het |
| Arpc5 |
A |
G |
1: 152,644,622 (GRCm39) |
T52A |
probably benign |
Het |
| Asb6 |
A |
G |
2: 30,718,247 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,889,567 (GRCm39) |
V482A |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,338,535 (GRCm39) |
N469S |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,939,138 (GRCm39) |
N266K |
probably benign |
Het |
| Btla |
T |
C |
16: 45,059,661 (GRCm39) |
Y122H |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,323,370 (GRCm39) |
M1278T |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,287,976 (GRCm39) |
S524P |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,946,519 (GRCm39) |
S438P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,675,113 (GRCm39) |
E171D |
probably benign |
Het |
| Cldn6 |
A |
T |
17: 23,900,467 (GRCm39) |
I144F |
probably damaging |
Het |
| Cpd |
G |
A |
11: 76,705,644 (GRCm39) |
Q363* |
probably null |
Het |
| Cpn1 |
G |
A |
19: 43,974,723 (GRCm39) |
P2L |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,748,864 (GRCm39) |
D264G |
probably damaging |
Het |
| Ddx39b |
C |
T |
17: 35,472,065 (GRCm39) |
S368L |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,425,254 (GRCm39) |
K681E |
probably damaging |
Het |
| Dennd1c |
A |
C |
17: 57,383,980 (GRCm39) |
W15G |
possibly damaging |
Het |
| Dgkd |
T |
G |
1: 87,869,223 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
G |
T |
1: 46,705,150 (GRCm39) |
A2388S |
probably benign |
Het |
| Etv4 |
C |
A |
11: 101,661,324 (GRCm39) |
K442N |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,432,532 (GRCm39) |
D539G |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,167,304 (GRCm39) |
T1538A |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,229,034 (GRCm39) |
N725K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,741,130 (GRCm39) |
N4I |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 92,046,418 (GRCm39) |
V1229A |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,895,205 (GRCm39) |
N479K |
probably benign |
Het |
| Gm5471 |
A |
T |
15: 44,835,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
| Gm6729 |
C |
A |
10: 86,377,030 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
T |
5: 121,415,897 (GRCm39) |
|
probably null |
Het |
| Hspb3 |
A |
C |
13: 113,800,027 (GRCm39) |
M1R |
probably null |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,601 (GRCm39) |
V19A |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,228,003 (GRCm39) |
H103R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,152,996 (GRCm39) |
D894E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,605 (GRCm39) |
H225R |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,119,481 (GRCm39) |
I2653F |
probably damaging |
Het |
| Map4k5 |
A |
T |
12: 69,892,497 (GRCm39) |
L144Q |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,842,482 (GRCm39) |
Y252C |
probably damaging |
Het |
| Mmgt2 |
A |
G |
11: 62,555,877 (GRCm39) |
E75G |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Nckap5 |
A |
G |
1: 126,150,443 (GRCm39) |
V162A |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,636,378 (GRCm39) |
I493T |
probably damaging |
Het |
| Or2ag16 |
A |
C |
7: 106,352,286 (GRCm39) |
L103R |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,901 (GRCm39) |
Y77F |
probably damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,465 (GRCm39) |
F75L |
probably benign |
Het |
| Papola |
A |
G |
12: 105,765,917 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,306,289 (GRCm39) |
R36Q |
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,397,370 (GRCm39) |
W81C |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,773 (GRCm39) |
S162P |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,869,196 (GRCm39) |
S540P |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,315,438 (GRCm39) |
T1757S |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,900,206 (GRCm39) |
I1154V |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,171,438 (GRCm39) |
I209V |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,009,218 (GRCm39) |
I406L |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,947 (GRCm39) |
E255G |
probably damaging |
Het |
| Snap91 |
C |
A |
9: 86,659,102 (GRCm39) |
G477V |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,404,548 (GRCm39) |
Q2780R |
probably benign |
Het |
| Spmap2 |
T |
C |
10: 79,415,884 (GRCm39) |
T236A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,312,095 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ssxb9 |
A |
T |
X: 8,235,845 (GRCm39) |
T18S |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,481 (GRCm39) |
I527M |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,968 (GRCm39) |
Y69C |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,616,361 (GRCm39) |
D87G |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,783 (GRCm39) |
K213R |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,197,240 (GRCm39) |
L1221Q |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,138 (GRCm39) |
Y187F |
probably damaging |
Het |
| Washc2 |
G |
A |
6: 116,235,891 (GRCm39) |
E1121K |
probably damaging |
Het |
| Zfx |
T |
C |
X: 93,124,464 (GRCm39) |
N360D |
probably damaging |
Het |
| Znhit3 |
A |
G |
11: 84,807,139 (GRCm39) |
V10A |
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 |
|
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 |
|
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'- TCTGGATCATGTTCAGAGGAGAAG -3'
(R):5'- TTGGTAGAAACAGCAGCCAC -3'
Sequencing Primer
(F):5'- AGTCGTTTGAAAGAGCCCC -3'
(R):5'- GCCACCACCCTCCACATAAAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation