Incidental Mutation 'IGL01668:Il1r1'
| ID |
103378 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il1r1
|
| Ensembl Gene |
ENSMUSG00000026072 |
| Gene Name |
interleukin 1 receptor, type I |
| Synonyms |
IL-iR, IL-1R1, Il1r-1, CD121a, IL-1 receptor alpha chain |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40264240-40356417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40352489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 556
(T556I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027241]
[ENSMUST00000114795]
|
| AlphaFold |
P13504 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027241
AA Change: T556I
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072
AA Change: T556I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
38 |
117 |
2.94e-1 |
SMART |
|
IG_like
|
132 |
218 |
5.56e0 |
SMART |
|
IG
|
236 |
333 |
1.35e0 |
SMART |
|
Blast:TIR
|
347 |
381 |
1e-7 |
BLAST |
|
TIR
|
387 |
544 |
1.93e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114795
AA Change: T553I
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072
AA Change: T553I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG
|
35 |
114 |
2.94e-1 |
SMART |
|
IG_like
|
129 |
215 |
5.56e0 |
SMART |
|
IG
|
233 |
330 |
1.35e0 |
SMART |
|
Blast:TIR
|
344 |
378 |
1e-7 |
BLAST |
|
TIR
|
384 |
541 |
1.93e-29 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoritinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,554,993 (GRCm39) |
V444A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,753,404 (GRCm39) |
H1799L |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,990,629 (GRCm39) |
P1108S |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,773,264 (GRCm39) |
S86P |
probably damaging |
Het |
| Cldn16 |
T |
A |
16: 26,301,296 (GRCm39) |
Y201* |
probably null |
Het |
| Col6a6 |
C |
A |
9: 105,586,470 (GRCm39) |
R1850S |
probably damaging |
Het |
| Cryge |
A |
G |
1: 65,087,857 (GRCm39) |
Y151H |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,397,048 (GRCm39) |
V180D |
probably damaging |
Het |
| Dmwd |
C |
T |
7: 18,815,080 (GRCm39) |
R577W |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
C |
T |
7: 105,026,771 (GRCm39) |
R180C |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,720,207 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Hsf1 |
T |
C |
15: 76,381,162 (GRCm39) |
|
probably null |
Het |
| Ighv1-62-3 |
A |
G |
12: 115,424,613 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
T |
G |
1: 131,184,675 (GRCm39) |
D666A |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,885,355 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrrc27 |
G |
T |
7: 138,807,827 (GRCm39) |
|
probably benign |
Het |
| Marchf2 |
A |
C |
17: 33,922,070 (GRCm39) |
W97G |
probably damaging |
Het |
| Or4c10b |
C |
A |
2: 89,711,443 (GRCm39) |
P91Q |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,839,231 (GRCm39) |
I31V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,285,746 (GRCm39) |
Y290H |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,414,123 (GRCm39) |
I324N |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,476,205 (GRCm39) |
E447G |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,223,869 (GRCm39) |
V731A |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,646,277 (GRCm39) |
V44A |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,941 (GRCm39) |
N1724D |
probably damaging |
Het |
| Sap130 |
A |
G |
18: 31,813,493 (GRCm39) |
N517D |
probably damaging |
Het |
| Slc13a3 |
A |
C |
2: 165,272,212 (GRCm39) |
F277C |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,119 (GRCm39) |
T86A |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,999,673 (GRCm39) |
V833D |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,239,299 (GRCm39) |
D1290G |
probably damaging |
Het |
| Wdr87-ps |
G |
A |
7: 29,236,855 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Il1r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Il1r1
|
APN |
1 |
40,352,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Il1r1
|
APN |
1 |
40,334,088 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01610:Il1r1
|
APN |
1 |
40,341,560 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01729:Il1r1
|
APN |
1 |
40,333,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Il1r1
|
APN |
1 |
40,352,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02229:Il1r1
|
APN |
1 |
40,352,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02428:Il1r1
|
APN |
1 |
40,352,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02902:Il1r1
|
APN |
1 |
40,341,569 (GRCm39) |
missense |
probably benign |
0.09 |
|
G5030:Il1r1
|
UTSW |
1 |
40,352,323 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0604:Il1r1
|
UTSW |
1 |
40,321,406 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1515:Il1r1
|
UTSW |
1 |
40,332,509 (GRCm39) |
nonsense |
probably null |
|
|
R1530:Il1r1
|
UTSW |
1 |
40,351,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1727:Il1r1
|
UTSW |
1 |
40,332,424 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1957:Il1r1
|
UTSW |
1 |
40,352,300 (GRCm39) |
nonsense |
probably null |
|
|
R2163:Il1r1
|
UTSW |
1 |
40,334,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2313:Il1r1
|
UTSW |
1 |
40,352,470 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4345:Il1r1
|
UTSW |
1 |
40,337,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4622:Il1r1
|
UTSW |
1 |
40,351,580 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4735:Il1r1
|
UTSW |
1 |
40,332,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5033:Il1r1
|
UTSW |
1 |
40,332,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Il1r1
|
UTSW |
1 |
40,264,411 (GRCm39) |
start gained |
probably benign |
|
|
R6375:Il1r1
|
UTSW |
1 |
40,334,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Il1r1
|
UTSW |
1 |
40,352,495 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6618:Il1r1
|
UTSW |
1 |
40,339,971 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7169:Il1r1
|
UTSW |
1 |
40,332,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Il1r1
|
UTSW |
1 |
40,321,421 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7798:Il1r1
|
UTSW |
1 |
40,349,526 (GRCm39) |
missense |
probably benign |
|
|
R8040:Il1r1
|
UTSW |
1 |
40,352,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8129:Il1r1
|
UTSW |
1 |
40,341,447 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9158:Il1r1
|
UTSW |
1 |
40,332,391 (GRCm39) |
nonsense |
probably null |
|
|
R9643:Il1r1
|
UTSW |
1 |
40,341,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Il1r1
|
UTSW |
1 |
40,332,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9748:Il1r1
|
UTSW |
1 |
40,349,496 (GRCm39) |
missense |
probably benign |
|
|
RF007:Il1r1
|
UTSW |
1 |
40,352,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation