Incidental Mutation 'IGL01939:Il1rl1'
| ID |
180804 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40468730-40504575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40501168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 515
(I515V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053043]
[ENSMUST00000087983]
[ENSMUST00000097772]
[ENSMUST00000108044]
[ENSMUST00000167723]
[ENSMUST00000193391]
[ENSMUST00000193793]
[ENSMUST00000195684]
|
| AlphaFold |
P14719 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053043
AA Change: I515V
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: I515V
| 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 |
probably benign
Transcript: ENSMUST00000087983
|
| SMART Domains |
Protein: ENSMUSP00000085298
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
8.93e-1 |
SMART |
|
IG_like
|
126 |
204 |
7.06e0 |
SMART |
|
IG
|
219 |
315 |
3.63e0 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097772
AA Change: I515V
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: I515V
| 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 |
probably benign
Transcript: ENSMUST00000108044
|
| SMART Domains |
Protein: ENSMUSP00000103679
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
8.93e-1 |
SMART |
|
IG_like
|
126 |
204 |
7.06e0 |
SMART |
|
IG
|
219 |
315 |
3.63e0 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167723
|
| SMART Domains |
Protein: ENSMUSP00000128277
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
8.93e-1 |
SMART |
|
IG_like
|
126 |
204 |
7.06e0 |
SMART |
|
IG
|
219 |
315 |
3.63e0 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193391
|
| SMART Domains |
Protein: ENSMUSP00000141695
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
8.93e-1 |
SMART |
|
IG_like
|
126 |
204 |
7.06e0 |
SMART |
|
IG
|
219 |
315 |
3.63e0 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193793
|
| SMART Domains |
Protein: ENSMUSP00000141464
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
3.7e-3 |
SMART |
|
IG_like
|
132 |
189 |
9.7e-3 |
SMART |
|
Pfam:Ig_2
|
214 |
263 |
5.2e-1 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195684
|
| SMART Domains |
Protein: ENSMUSP00000142070
Gene: ENSMUSG00000026070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
25 |
113 |
8.93e-1 |
SMART |
|
IG_like
|
126 |
204 |
7.06e0 |
SMART |
|
IG
|
219 |
315 |
3.63e0 |
SMART |
|
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
|
TIR
|
371 |
519 |
3.8e-37 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,885,925 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,701,183 (GRCm39) |
V242A |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,551,769 (GRCm39) |
N1127S |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,976,380 (GRCm39) |
H267L |
probably benign |
Het |
| Ces1b |
C |
T |
8: 93,806,059 (GRCm39) |
G61R |
probably damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,286 (GRCm39) |
D355V |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,005 (GRCm39) |
S459P |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,101,185 (GRCm39) |
T137A |
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,677,202 (GRCm39) |
M174K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,964,790 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,174,806 (GRCm39) |
D1969A |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,353,606 (GRCm39) |
E317V |
probably damaging |
Het |
| Foxf2 |
G |
T |
13: 31,810,697 (GRCm39) |
S212I |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,685 (GRCm39) |
|
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,105 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,893,946 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
T |
C |
18: 35,071,761 (GRCm39) |
E613G |
possibly damaging |
Het |
| Ins1 |
G |
T |
19: 52,253,173 (GRCm39) |
A38S |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,562,488 (GRCm39) |
N418D |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,961,778 (GRCm39) |
K417E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,226 (GRCm39) |
Y823H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,168,100 (GRCm39) |
D421E |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,492,900 (GRCm39) |
S150P |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,703,871 (GRCm39) |
|
probably benign |
Het |
| Nkx1-2 |
A |
T |
7: 132,201,203 (GRCm39) |
I18N |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,077 (GRCm39) |
T286A |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,807 (GRCm39) |
I272F |
probably benign |
Het |
| Or8g33 |
A |
C |
9: 39,337,634 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,285 (GRCm39) |
D70G |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,232,232 (GRCm39) |
R237G |
probably damaging |
Het |
| Pp2d1 |
G |
A |
17: 53,822,167 (GRCm39) |
L300F |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,420 (GRCm39) |
Y516N |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,370,158 (GRCm39) |
|
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,617,650 (GRCm39) |
V16A |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,604,864 (GRCm39) |
C82S |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,480 (GRCm39) |
E393G |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,856,889 (GRCm39) |
E449V |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,334 (GRCm39) |
H1143Q |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,208,549 (GRCm39) |
I530T |
probably benign |
Het |
| Sel1l |
T |
A |
12: 91,783,021 (GRCm39) |
Q482L |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,648 (GRCm39) |
M280T |
probably damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,871,895 (GRCm39) |
H348L |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,367,120 (GRCm39) |
L542P |
possibly damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,488 (GRCm39) |
Q609L |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,665,781 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,365,262 (GRCm39) |
|
probably null |
Het |
| Tpo |
T |
C |
12: 30,134,646 (GRCm39) |
T771A |
possibly damaging |
Het |
| Tpr |
G |
A |
1: 150,289,496 (GRCm39) |
R609H |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,295,141 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
G |
T |
13: 22,403,893 (GRCm39) |
S33* |
probably null |
Het |
| Vmn2r104 |
A |
C |
17: 20,250,187 (GRCm39) |
S695A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,404 (GRCm39) |
D427G |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,846 (GRCm39) |
S160P |
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 |
|
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 |
|
R0007:Il1rl1
|
UTSW |
1 |
40,485,331 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2014-05-07 |
Incidental Mutation