Incidental Mutation 'R9493:Il1rap'
| ID |
717078 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9493 (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 26541702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 648
(S648P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096129]
[ENSMUST00000166294]
|
| AlphaFold |
Q61730 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096129
AA Change: S648P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093843
Gene: ENSMUSG00000022514
AA Change: S648P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128100
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 |
547 |
1.38e-25 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,191 (GRCm39) |
Y799H |
probably damaging |
Het |
| Akap5 |
G |
A |
12: 76,375,041 (GRCm39) |
A158T |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,434 (GRCm39) |
K689E |
probably benign |
Het |
| Arid1b |
G |
A |
17: 5,046,423 (GRCm39) |
A404T |
unknown |
Het |
| Bltp1 |
A |
G |
3: 37,065,885 (GRCm39) |
N53S |
|
Het |
| Camk2b |
T |
A |
11: 5,929,711 (GRCm39) |
D396V |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,683 (GRCm39) |
D128V |
probably null |
Het |
| Cdk15 |
G |
T |
1: 59,326,943 (GRCm39) |
R208L |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,785,346 (GRCm39) |
K2963Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,301,074 (GRCm39) |
S2740P |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,632,964 (GRCm39) |
L162H |
probably damaging |
Het |
| Cntn1 |
A |
T |
15: 92,189,644 (GRCm39) |
T656S |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
A |
G |
9: 24,530,459 (GRCm39) |
Y507H |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,122,752 (GRCm39) |
C57* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,217,689 (GRCm39) |
Y621H |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,556,522 (GRCm39) |
C739S |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,872,686 (GRCm39) |
T215I |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,255 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,137,907 (GRCm39) |
S870T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,548 (GRCm39) |
F1288I |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,547,376 (GRCm39) |
H209L |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,926,869 (GRCm39) |
R69H |
probably damaging |
Het |
| Nms |
A |
T |
1: 38,980,982 (GRCm39) |
H56L |
probably benign |
Het |
| Or4f54 |
G |
A |
2: 111,122,736 (GRCm39) |
G41D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,288 (GRCm39) |
H155Y |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,497 (GRCm39) |
M7K |
possibly damaging |
Het |
| Or5t17 |
T |
C |
2: 86,833,140 (GRCm39) |
S276P |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,639,598 (GRCm39) |
R93* |
probably null |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,509,021 (GRCm39) |
V653F |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,139,047 (GRCm39) |
V299A |
|
Het |
| Slc6a15 |
A |
G |
10: 103,229,277 (GRCm39) |
I105M |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,833,395 (GRCm39) |
V209A |
|
Het |
| Snapc2 |
A |
G |
8: 4,304,591 (GRCm39) |
E115G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,199,529 (GRCm39) |
E592G |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,508,614 (GRCm39) |
P17L |
|
Het |
| Styxl2 |
T |
A |
1: 165,926,410 (GRCm39) |
K1067N |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,823 (GRCm39) |
Q102L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,801,644 (GRCm39) |
N461Y |
probably benign |
Het |
| Trim59 |
C |
A |
3: 68,945,134 (GRCm39) |
G69C |
probably damaging |
Het |
| Tubg1 |
A |
G |
11: 101,017,003 (GRCm39) |
Y435C |
probably damaging |
Het |
| Ucp3 |
A |
C |
7: 100,131,911 (GRCm39) |
H254P |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,157,276 (GRCm39) |
D842G |
probably damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,423 (GRCm39) |
L68H |
probably damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,057 (GRCm39) |
E49G |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,180,706 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GTCTGGATCATGTTCAGAGGAG -3'
(R):5'- TTTGACCCAAAGAGAGTTGGTAG -3'
Sequencing Primer
(F):5'- AGTCGTTTGAAAGAGCCCC -3'
(R):5'- GTTGGTAGAAACAGCAGCCACC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation