Incidental Mutation 'R6375:Il1r1'
| ID |
514896 |
| 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 |
044525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40264240-40356417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40334050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 207
(Y207N)
|
| 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: Y210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027241
Gene: ENSMUSG00000026072
AA Change: Y210N
| 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: Y207N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110443
Gene: ENSMUSG00000026072
AA Change: Y207N
| 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 |
0.4402 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
| Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,084 (GRCm39) |
N526D |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
| Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
| Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
| Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
| Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
| Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
| Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
| Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
| Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,622,960 (GRCm39) |
T80A |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
| Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
| Qrich2 |
A |
G |
11: 116,349,054 (GRCm39) |
|
probably benign |
Het |
| Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
| Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
| Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
| Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
| Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,037 (GRCm39) |
V704E |
probably damaging |
Het |
| Tmem39a |
A |
G |
16: 38,405,599 (GRCm39) |
T59A |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
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 |
|
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 |
|
|
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'- TGTAAACCATTCCACTGCACAGG -3'
(R):5'- TCCAGTGTGCCCATGAAATCC -3'
Sequencing Primer
(F):5'- ACAGGGGAGCTCCTAACTGTC -3'
(R):5'- GCATTCTCTCTGGACACATGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation