Incidental Mutation 'R8559:Il1rap'
| ID |
660953 |
| 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 |
068522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
26400454-26548867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26530884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 407
(I407V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
[ENSMUST00000174171]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023156
AA Change: I407V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023156
Gene: ENSMUSG00000022514
AA Change: I407V
| 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: I407V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: I407V
| 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: I407V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: I407V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
A |
10: 89,568,048 (GRCm39) |
H19L |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,784,117 (GRCm39) |
V1579E |
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,383,721 (GRCm39) |
R435C |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,897 (GRCm39) |
D207G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,273 (GRCm39) |
N948S |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,692,603 (GRCm39) |
P417L |
probably damaging |
Het |
| Ccn2 |
CCCGCCAACCGC |
CCCGC |
10: 24,471,966 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
A |
2: 155,834,656 (GRCm39) |
S2194T |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,111,032 (GRCm39) |
V102M |
possibly damaging |
Het |
| Cog2 |
T |
C |
8: 125,269,647 (GRCm39) |
S396P |
probably benign |
Het |
| Col28a1 |
C |
A |
6: 8,166,681 (GRCm39) |
R265L |
unknown |
Het |
| Cpa6 |
C |
T |
1: 10,478,574 (GRCm39) |
W254* |
probably null |
Het |
| Crtc2 |
T |
A |
3: 90,170,904 (GRCm39) |
M659K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,764,299 (GRCm39) |
Y3020C |
probably damaging |
Het |
| Dok2 |
C |
A |
14: 71,014,968 (GRCm39) |
H232N |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,694,169 (GRCm39) |
E834G |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,872,502 (GRCm39) |
|
probably null |
Het |
| Epx |
T |
A |
11: 87,755,618 (GRCm39) |
I689F |
probably damaging |
Het |
| Exd2 |
G |
A |
12: 80,522,631 (GRCm39) |
R30H |
probably benign |
Het |
| Gja1 |
T |
C |
10: 56,264,304 (GRCm39) |
L221P |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gm8439 |
T |
A |
4: 120,458,008 (GRCm39) |
W50R |
unknown |
Het |
| Greb1 |
T |
A |
12: 16,746,436 (GRCm39) |
D1278V |
probably damaging |
Het |
| Grin3a |
C |
A |
4: 49,770,555 (GRCm39) |
C739F |
probably damaging |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,551,789 (GRCm39) |
T2605I |
probably benign |
Het |
| Hmgxb3 |
T |
A |
18: 61,288,491 (GRCm39) |
T459S |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,921 (GRCm39) |
H1469R |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,478,834 (GRCm39) |
S555* |
probably null |
Het |
| Krt8 |
T |
C |
15: 101,909,979 (GRCm39) |
M142V |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,932,075 (GRCm39) |
N1049I |
possibly damaging |
Het |
| Megf10 |
G |
A |
18: 57,373,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,684 (GRCm39) |
H338L |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,921,471 (GRCm39) |
T33A |
possibly damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,370 (GRCm39) |
Y399F |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,950 (GRCm39) |
T414I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,754,715 (GRCm38) |
S1530P |
unknown |
Het |
| Myl4 |
T |
C |
11: 104,474,930 (GRCm39) |
V93A |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,982,628 (GRCm39) |
S1627R |
possibly damaging |
Het |
| Narf |
T |
G |
11: 121,141,258 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
C |
12: 13,402,809 (GRCm39) |
I788L |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,783,146 (GRCm39) |
S104P |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or4a68 |
T |
A |
2: 89,270,528 (GRCm39) |
I32F |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,058,988 (GRCm39) |
V109A |
probably benign |
Het |
| Ppp4r4 |
A |
T |
12: 103,559,420 (GRCm39) |
T534S |
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,680 (GRCm39) |
E58G |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,512 (GRCm39) |
V153A |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,419,784 (GRCm39) |
Y443N |
probably damaging |
Het |
| Rpgrip1 |
T |
C |
14: 52,386,714 (GRCm39) |
S882P |
unknown |
Het |
| Scn1a |
T |
A |
2: 66,118,077 (GRCm39) |
D412V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,427,975 (GRCm39) |
T180A |
probably damaging |
Het |
| Suox |
A |
G |
10: 128,506,600 (GRCm39) |
L476P |
probably damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,388 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tubg2 |
T |
C |
11: 101,047,610 (GRCm39) |
V65A |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,882,634 (GRCm39) |
V365A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,646 (GRCm39) |
M807V |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,815,480 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,876,788 (GRCm39) |
I2814F |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,214,815 (GRCm39) |
Y108H |
probably damaging |
Het |
| Wdr6 |
T |
A |
9: 108,452,593 (GRCm39) |
E430V |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,559 (GRCm39) |
V863E |
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 |
|
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 |
|
|
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'- ACTTGGCATGAGTACTGTCGG -3'
(R):5'- TTTCAGGGAGGCACCATTG -3'
Sequencing Primer
(F):5'- CATGAGTACTGTCGGCACTAG -3'
(R):5'- TTGCTGCTCATCAGAAATACCTAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation