Incidental Mutation 'R4345:Il1r1'
ID |
324281 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
041666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4345 (G1)
|
Quality Score |
219 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
40264240-40356417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40337084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027241]
[ENSMUST00000114795]
|
AlphaFold |
P13504 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027241
AA Change: D227G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027241 Gene: ENSMUSG00000026072 AA Change: D227G
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: D224G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110443 Gene: ENSMUSG00000026072 AA Change: D224G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
96% (47/49) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
Zswim6 |
G |
T |
13: 107,863,466 (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 |
IGL01668:Il1r1
|
APN |
1 |
40,352,489 (GRCm39) |
missense |
probably benign |
0.31 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGGAGAATACCTGTATGG -3'
(R):5'- AGCGGAGAATGTGTCACCATC -3'
Sequencing Primer
(F):5'- GTATGGTCCAACCTTGCTTCAGG -3'
(R):5'- GAGAATGTGTCACCATCCCTCTGTAG -3'
|
Posted On |
2015-06-24 |