Incidental Mutation 'R5953:Il1rl1'
| ID |
470980 |
| 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 |
043245-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
40468730-40504575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40481833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 180
(D180E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053043]
[ENSMUST00000097772]
[ENSMUST00000173514]
[ENSMUST00000173881]
[ENSMUST00000174335]
|
| AlphaFold |
P14719 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053043
AA Change: D180E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000054914
Gene: ENSMUSG00000026069
AA Change: D180E
| 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: ENSMUST00000097772
AA Change: D180E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000095379
Gene: ENSMUSG00000026069
AA Change: D180E
| 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: ENSMUST00000173514
AA Change: D180E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133784
Gene: ENSMUSG00000026069
AA Change: D180E
| 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 |
probably benign
Transcript: ENSMUST00000174335
AA Change: D180E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000134351
Gene: ENSMUSG00000026069
AA Change: D180E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,960,241 (GRCm39) |
S675T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,780,416 (GRCm39) |
L212P |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,043,225 (GRCm39) |
T751A |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,229 (GRCm39) |
N532D |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,682,285 (GRCm39) |
E220G |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,979 (GRCm39) |
|
probably null |
Het |
| Cenpp |
T |
C |
13: 49,806,161 (GRCm39) |
D2G |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Clec4a3 |
G |
T |
6: 122,946,451 (GRCm39) |
V232L |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,968,156 (GRCm39) |
H792Y |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,206,220 (GRCm39) |
T470S |
probably benign |
Het |
| Cym |
T |
A |
3: 107,120,783 (GRCm39) |
D274V |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,890,049 (GRCm39) |
C627Y |
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,289,903 (GRCm39) |
I111N |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,027,871 (GRCm39) |
Y310F |
probably damaging |
Het |
| Fam217b |
C |
T |
2: 178,062,153 (GRCm39) |
S39F |
probably damaging |
Het |
| Fam234b |
G |
T |
6: 135,202,705 (GRCm39) |
R353L |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,147,572 (GRCm39) |
I404V |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,369,182 (GRCm39) |
C256* |
probably null |
Het |
| Intu |
A |
C |
3: 40,633,980 (GRCm39) |
L404F |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,635,624 (GRCm39) |
T64M |
possibly damaging |
Het |
| Mpl |
C |
A |
4: 118,311,707 (GRCm39) |
S302I |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,311,708 (GRCm39) |
S302C |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,287,951 (GRCm39) |
D241Y |
probably damaging |
Het |
| Nlrp3 |
C |
T |
11: 59,437,617 (GRCm39) |
H99Y |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,732 (GRCm39) |
I133F |
possibly damaging |
Het |
| Or6c216 |
C |
G |
10: 129,678,483 (GRCm39) |
V143L |
probably benign |
Het |
| Pglyrp1 |
A |
T |
7: 18,624,238 (GRCm39) |
I174F |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Plekhm3 |
C |
T |
1: 64,977,054 (GRCm39) |
E139K |
probably damaging |
Het |
| Pomk |
C |
A |
8: 26,473,076 (GRCm39) |
L292F |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,504,148 (GRCm39) |
I1103T |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,266,401 (GRCm39) |
D38G |
probably damaging |
Het |
| Rapsn |
T |
C |
2: 90,872,308 (GRCm39) |
V214A |
probably benign |
Het |
| S100a9 |
T |
A |
3: 90,600,234 (GRCm39) |
K54M |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,570 (GRCm39) |
Y1964H |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,464,780 (GRCm39) |
N331S |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,958,677 (GRCm39) |
C252S |
probably damaging |
Het |
| Snx9 |
G |
T |
17: 5,958,678 (GRCm39) |
C252F |
probably damaging |
Het |
| Trem1 |
A |
T |
17: 48,544,220 (GRCm39) |
M82L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAAACGTTTGAAATCTGGGG -3'
(R):5'- ACCTATGCTTCATGGCAACTTC -3'
Sequencing Primer
(F):5'- TCTGGGGAGAAAATGATAACATCTGC -3'
(R):5'- GGCAACTTCCTTTCATGTTAGAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation