Incidental Mutation 'IGL01729:Il1r1'
ID |
105395 |
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: 0.055)
|
Stock # |
IGL01729
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
40264240-40356417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40333986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 185
(N185K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027241]
[ENSMUST00000114795]
|
AlphaFold |
P13504 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027241
AA Change: N188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027241 Gene: ENSMUSG00000026072 AA Change: N188K
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 damaging
Transcript: ENSMUST00000114795
AA Change: N185K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110443 Gene: ENSMUSG00000026072 AA Change: N185K
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
A |
G |
15: 83,112,526 (GRCm39) |
F86L |
probably damaging |
Het |
Acer3 |
A |
G |
7: 97,866,072 (GRCm39) |
V217A |
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
Adcy8 |
C |
T |
15: 64,678,511 (GRCm39) |
V481I |
probably damaging |
Het |
Ano3 |
C |
T |
2: 110,611,739 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
C |
T |
11: 97,344,787 (GRCm39) |
T583I |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,057,106 (GRCm39) |
L173P |
probably damaging |
Het |
Clgn |
T |
C |
8: 84,124,279 (GRCm39) |
W74R |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,426,753 (GRCm39) |
S523G |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,864,529 (GRCm39) |
K2245Q |
probably benign |
Het |
Dsg1b |
G |
T |
18: 20,538,295 (GRCm39) |
V634L |
possibly damaging |
Het |
Dzip3 |
A |
T |
16: 48,748,726 (GRCm39) |
V864E |
possibly damaging |
Het |
Ear2 |
A |
T |
14: 44,340,701 (GRCm39) |
R120* |
probably null |
Het |
Fam171b |
T |
C |
2: 83,685,881 (GRCm39) |
|
probably benign |
Het |
Fam186b |
G |
A |
15: 99,178,132 (GRCm39) |
S398L |
probably benign |
Het |
Gabrp |
T |
C |
11: 33,502,689 (GRCm39) |
K392E |
probably damaging |
Het |
Gm10355 |
G |
A |
3: 101,213,999 (GRCm39) |
|
noncoding transcript |
Het |
Gm3424 |
T |
C |
14: 17,337,188 (GRCm39) |
Y90C |
probably damaging |
Het |
Gm8165 |
A |
G |
14: 43,910,186 (GRCm39) |
V212A |
unknown |
Het |
Grm7 |
G |
A |
6: 111,223,145 (GRCm39) |
R395Q |
probably benign |
Het |
Jam3 |
A |
G |
9: 27,016,821 (GRCm39) |
F80L |
probably damaging |
Het |
Map1s |
T |
C |
8: 71,365,712 (GRCm39) |
Y206H |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,561,402 (GRCm39) |
Y614H |
possibly damaging |
Het |
Ntmt2 |
T |
A |
1: 163,552,572 (GRCm39) |
D18V |
probably damaging |
Het |
Pate2 |
T |
C |
9: 35,581,888 (GRCm39) |
Y61H |
probably damaging |
Het |
Prox1 |
T |
A |
1: 189,893,372 (GRCm39) |
T358S |
probably benign |
Het |
Prpf6 |
T |
A |
2: 181,296,710 (GRCm39) |
D876E |
probably damaging |
Het |
Rpf1 |
G |
A |
3: 146,212,904 (GRCm39) |
R311C |
probably damaging |
Het |
Rpusd2 |
T |
A |
2: 118,865,837 (GRCm39) |
V178D |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,068,042 (GRCm39) |
F222L |
probably benign |
Het |
Themis |
T |
A |
10: 28,637,587 (GRCm39) |
Y230* |
probably null |
Het |
Tmem132e |
T |
C |
11: 82,325,942 (GRCm39) |
L314P |
possibly damaging |
Het |
Tmtc3 |
T |
C |
10: 100,283,017 (GRCm39) |
E846G |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,551,603 (GRCm39) |
V88A |
possibly damaging |
Het |
Trim21 |
G |
A |
7: 102,213,100 (GRCm39) |
A66V |
probably damaging |
Het |
Trip4 |
A |
C |
9: 65,782,174 (GRCm39) |
V186G |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,973,739 (GRCm39) |
E348G |
probably damaging |
Het |
Xrn2 |
T |
C |
2: 146,878,717 (GRCm39) |
|
probably null |
Het |
Zfp36 |
A |
G |
7: 28,077,888 (GRCm39) |
S7P |
probably damaging |
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 |
IGL01668:Il1r1
|
APN |
1 |
40,352,489 (GRCm39) |
missense |
probably benign |
0.31 |
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 |