Incidental Mutation 'R6748:Il1rap'
| ID |
530665 |
| 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 |
044865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6748 (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 T
at 26541106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 449
(N449I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023156]
[ENSMUST00000096129]
[ENSMUST00000166294]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023156
|
| SMART Domains |
Protein: ENSMUSP00000023156
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 |
|
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: N449I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: N449I
| 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: N449I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128100
Gene: ENSMUSG00000022514
AA Change: N449I
| 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 |
probably benign
Transcript: ENSMUST00000173136
|
| SMART Domains |
Protein: ENSMUSP00000133294
Gene: ENSMUSG00000022514
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
A |
1: 38,574,327 (GRCm39) |
R178I |
probably damaging |
Het |
| Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,361,058 (GRCm39) |
M926K |
possibly damaging |
Het |
| C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
| Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
| Cyp2j8 |
T |
A |
4: 96,363,782 (GRCm39) |
T294S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
| Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,344,538 (GRCm39) |
Y527* |
probably null |
Het |
| Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
| Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,121,377 (GRCm39) |
R413* |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,216,447 (GRCm39) |
K80R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
| Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
| Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
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 |
|
R6254:Il1rap
|
UTSW |
16 |
26,514,020 (GRCm39) |
missense |
probably benign |
|
|
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'- TTCCCAAATGTCAGTAAGGGTGG -3'
(R):5'- ACAGACTCCTTCAGCTGCATG -3'
Sequencing Primer
(F):5'- CCAAATGTCAGTAAGGGTGGTGTTG -3'
(R):5'- TCAGCTGCATGATGCCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation