Incidental Mutation 'IGL02160:Il1rl1'
| ID |
282434 |
| 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 # |
IGL02160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
40468730-40504575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40500997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 458
(M458L)
|
| 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 |
probably benign
Transcript: ENSMUST00000053043
AA Change: M458L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: M458L
| 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 |
probably benign
Transcript: ENSMUST00000097772
AA Change: M458L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: M458L
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
A |
G |
9: 53,503,287 (GRCm39) |
V184A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,030,522 (GRCm39) |
C750Y |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabp2 |
T |
A |
19: 4,134,868 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,731,015 (GRCm39) |
M94T |
possibly damaging |
Het |
| Ccdc107 |
A |
G |
4: 43,495,736 (GRCm39) |
D213G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,433,544 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,394,081 (GRCm39) |
E323D |
unknown |
Het |
| Cfhr2 |
T |
A |
1: 139,738,664 (GRCm39) |
D299V |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,368,004 (GRCm39) |
|
probably benign |
Het |
| Clspn |
G |
A |
4: 126,475,303 (GRCm39) |
E1019K |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,086,477 (GRCm39) |
T350A |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,684,418 (GRCm39) |
G638E |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,643,929 (GRCm39) |
D117E |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,773,593 (GRCm39) |
Y621* |
probably null |
Het |
| Ffar4 |
T |
A |
19: 38,085,903 (GRCm39) |
V110D |
possibly damaging |
Het |
| Foxred2 |
G |
T |
15: 77,839,850 (GRCm39) |
Q147K |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,304,308 (GRCm39) |
A94V |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,774 (GRCm39) |
S49T |
possibly damaging |
Het |
| Il23r |
A |
T |
6: 67,400,562 (GRCm39) |
N589K |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,801 (GRCm39) |
V467M |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,812 (GRCm39) |
E728D |
probably damaging |
Het |
| Lum |
T |
C |
10: 97,404,443 (GRCm39) |
S113P |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,469,726 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,672,633 (GRCm39) |
D195G |
possibly damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,194 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
G |
A |
9: 18,291,233 (GRCm39) |
A191V |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,933 (GRCm39) |
H863Q |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,263,003 (GRCm39) |
V477A |
possibly damaging |
Het |
| Nipal3 |
G |
T |
4: 135,201,728 (GRCm39) |
Y153* |
probably null |
Het |
| Or10s1 |
A |
T |
9: 39,986,482 (GRCm39) |
N297I |
probably damaging |
Het |
| Or13d1 |
A |
G |
4: 52,971,194 (GRCm39) |
D191G |
probably damaging |
Het |
| Or4c12 |
G |
T |
2: 89,774,149 (GRCm39) |
H103Q |
probably damaging |
Het |
| Or4g16 |
G |
A |
2: 111,137,143 (GRCm39) |
V198I |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,079 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pik3c2a |
G |
A |
7: 115,987,299 (GRCm39) |
P541S |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,506 (GRCm39) |
D552E |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,009,475 (GRCm39) |
|
probably benign |
Het |
| Prcp |
G |
A |
7: 92,566,969 (GRCm39) |
S227N |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,489,426 (GRCm39) |
T900S |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,190,360 (GRCm39) |
|
probably benign |
Het |
| Rcsd1 |
A |
G |
1: 165,485,148 (GRCm39) |
S102P |
probably damaging |
Het |
| Rfwd3 |
T |
A |
8: 111,999,707 (GRCm39) |
N757I |
possibly damaging |
Het |
| Rnf217 |
A |
T |
10: 31,381,767 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,560,460 (GRCm39) |
D1230G |
probably damaging |
Het |
| Sdc3 |
T |
C |
4: 130,545,886 (GRCm39) |
|
probably benign |
Het |
| Slc27a4 |
G |
T |
2: 29,695,974 (GRCm39) |
D170Y |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,981,815 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,577,560 (GRCm39) |
I512F |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,767 (GRCm39) |
C1211R |
probably benign |
Het |
| Tlr2 |
A |
T |
3: 83,744,678 (GRCm39) |
N468K |
possibly damaging |
Het |
| Tmod4 |
T |
C |
3: 95,036,424 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,719 (GRCm39) |
S2380P |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,713,612 (GRCm39) |
D276G |
probably damaging |
Het |
| Tox |
A |
G |
4: 6,711,537 (GRCm39) |
V309A |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,273,637 (GRCm39) |
F175L |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,973,683 (GRCm39) |
S17P |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,785,989 (GRCm39) |
L662F |
probably damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,339,951 (GRCm39) |
N261K |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,205,091 (GRCm39) |
V562A |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,220,478 (GRCm39) |
I20N |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,832,612 (GRCm39) |
N3092D |
probably damaging |
Het |
| Zc3h6 |
G |
T |
2: 128,839,605 (GRCm39) |
E139D |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation