Incidental Mutation 'R0007:Il1rl1'
| ID |
8240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il1rl1
|
| Ensembl Gene |
ENSMUSG00000026069 |
| Gene Name |
interleukin 1 receptor-like 1 |
| Synonyms |
DER4, Ly84, St2-rs1, St2, T1/ST2, ST2L, ST2, Fit-1, T1, T1 gene |
| MMRRC Submission |
038302-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0007 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
40468730-40504575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40485331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 261
(T261I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053043]
[ENSMUST00000097772]
[ENSMUST00000173514]
[ENSMUST00000173881]
[ENSMUST00000174335]
|
| AlphaFold |
P14719 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053043
AA Change: T261I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: T261I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
|
TIR
|
381 |
543 |
4.23e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097772
AA Change: T261I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: T261I
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
transmembrane domain
|
333 |
355 |
N/A |
INTRINSIC |
|
TIR
|
381 |
543 |
4.23e-35 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173514
AA Change: T261I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: T261I
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173881
|
| SMART Domains |
Protein: ENSMUSP00000134225
Gene: ENSMUSG00000026069
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PDB:4KC3|B
|
27 |
65 |
4e-16 |
PDB |
|
Blast:IGc2
|
33 |
65 |
2e-17 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174335
AA Change: T261I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: T261I
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
33 |
100 |
7.35e-11 |
SMART |
|
IGc2
|
130 |
194 |
8.85e-5 |
SMART |
|
IG_like
|
225 |
326 |
2.66e1 |
SMART |
|
| Meta Mutation Damage Score |
0.1424 |
| Coding Region Coverage |
- 1x: 75.9%
- 3x: 62.7%
- 10x: 33.8%
- 20x: 16.7%
|
| Validation Efficiency |
95% (54/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,147,466 (GRCm39) |
|
probably benign |
Het |
| Cdh8 |
A |
T |
8: 99,957,088 (GRCm39) |
L205* |
probably null |
Het |
| Cntnap2 |
A |
C |
6: 45,969,007 (GRCm39) |
N250H |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,471 (GRCm39) |
V973A |
unknown |
Het |
| Denr |
T |
A |
5: 124,062,877 (GRCm39) |
Y127N |
probably damaging |
Het |
| Diaph3 |
C |
A |
14: 87,104,056 (GRCm39) |
R776L |
possibly damaging |
Het |
| F2 |
T |
C |
2: 91,460,952 (GRCm39) |
E260G |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,630,938 (GRCm39) |
|
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,201,006 (GRCm39) |
I209N |
probably damaging |
Het |
| Myo1b |
T |
A |
1: 51,815,413 (GRCm39) |
R650S |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,840,574 (GRCm38) |
H153Q |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,250,515 (GRCm39) |
|
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,602,353 (GRCm39) |
F281I |
possibly damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,632,225 (GRCm39) |
G314C |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,437,794 (GRCm39) |
|
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,488,284 (GRCm39) |
V828A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,140,230 (GRCm39) |
A60T |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,946 (GRCm39) |
Q523L |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trhr |
T |
C |
15: 44,092,547 (GRCm39) |
|
probably benign |
Het |
| Trim16 |
A |
G |
11: 62,719,944 (GRCm39) |
M84V |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,893 (GRCm39) |
A1453T |
probably benign |
Het |
| Zfp990 |
C |
A |
4: 145,264,008 (GRCm39) |
H335Q |
probably benign |
Het |
|
| Other mutations in Il1rl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Il1rl1
|
APN |
1 |
40,485,376 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01413:Il1rl1
|
APN |
1 |
40,485,329 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01939:Il1rl1
|
APN |
1 |
40,501,168 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02121:Il1rl1
|
APN |
1 |
40,481,463 (GRCm39) |
splice site |
probably benign |
|
|
IGL02160:Il1rl1
|
APN |
1 |
40,500,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02695:Il1rl1
|
APN |
1 |
40,485,718 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0105:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R0200:Il1rl1
|
UTSW |
1 |
40,480,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0363:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Il1rl1
|
UTSW |
1 |
40,490,877 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0637:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R0676:Il1rl1
|
UTSW |
1 |
40,481,734 (GRCm39) |
splice site |
probably benign |
|
|
R1371:Il1rl1
|
UTSW |
1 |
40,481,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2074:Il1rl1
|
UTSW |
1 |
40,501,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2309:Il1rl1
|
UTSW |
1 |
40,481,817 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2426:Il1rl1
|
UTSW |
1 |
40,485,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Il1rl1
|
UTSW |
1 |
40,485,823 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4601:Il1rl1
|
UTSW |
1 |
40,480,460 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4707:Il1rl1
|
UTSW |
1 |
40,489,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4720:Il1rl1
|
UTSW |
1 |
40,485,838 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4784:Il1rl1
|
UTSW |
1 |
40,489,348 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5137:Il1rl1
|
UTSW |
1 |
40,489,285 (GRCm39) |
missense |
probably benign |
|
|
R5765:Il1rl1
|
UTSW |
1 |
40,501,103 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5953:Il1rl1
|
UTSW |
1 |
40,481,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6339:Il1rl1
|
UTSW |
1 |
40,501,016 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7176:Il1rl1
|
UTSW |
1 |
40,485,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Il1rl1
|
UTSW |
1 |
40,485,864 (GRCm39) |
makesense |
probably null |
|
|
R8129:Il1rl1
|
UTSW |
1 |
40,490,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8670:Il1rl1
|
UTSW |
1 |
40,480,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation