Incidental Mutation 'R3020:Ifnlr1'
| ID |
257723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifnlr1
|
| Ensembl Gene |
ENSMUSG00000062157 |
| Gene Name |
interferon lambda receptor 1 |
| Synonyms |
IFNLR1, Il28ra, CRF2-12 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3020 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135413598-135435492 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
AGAGGAGGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGAGGAGGA
at 135433041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074408]
|
| AlphaFold |
Q8CGK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074408
|
| SMART Domains |
Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
15 |
N/A |
INTRINSIC |
|
FN3
|
24 |
108 |
7.75e0 |
SMART |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
505 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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 belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and normal with respect to viral infection, however antiviral response evoked by TLRs are significantly reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
A |
5: 121,639,446 (GRCm39) |
S533L |
possibly damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Chrnb3 |
G |
A |
8: 27,886,812 (GRCm39) |
R447H |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,455 (GRCm39) |
F204S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,957,601 (GRCm39) |
D552G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,066,698 (GRCm39) |
F2043L |
probably damaging |
Het |
| Vamp8 |
A |
G |
6: 72,365,330 (GRCm39) |
I26T |
possibly damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ifnlr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Ifnlr1
|
APN |
4 |
135,431,596 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01637:Ifnlr1
|
APN |
4 |
135,413,856 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02090:Ifnlr1
|
APN |
4 |
135,432,578 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0677:Ifnlr1
|
UTSW |
4 |
135,432,945 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0723:Ifnlr1
|
UTSW |
4 |
135,428,524 (GRCm39) |
splice site |
probably benign |
|
|
R0762:Ifnlr1
|
UTSW |
4 |
135,428,640 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1169:Ifnlr1
|
UTSW |
4 |
135,432,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1303:Ifnlr1
|
UTSW |
4 |
135,431,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1819:Ifnlr1
|
UTSW |
4 |
135,413,834 (GRCm39) |
start gained |
probably benign |
|
|
R1957:Ifnlr1
|
UTSW |
4 |
135,413,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Ifnlr1
|
UTSW |
4 |
135,433,148 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2509:Ifnlr1
|
UTSW |
4 |
135,432,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Ifnlr1
|
UTSW |
4 |
135,432,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Ifnlr1
|
UTSW |
4 |
135,432,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:Ifnlr1
|
UTSW |
4 |
135,428,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4495:Ifnlr1
|
UTSW |
4 |
135,433,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4804:Ifnlr1
|
UTSW |
4 |
135,432,647 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4938:Ifnlr1
|
UTSW |
4 |
135,432,593 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5070:Ifnlr1
|
UTSW |
4 |
135,431,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5073:Ifnlr1
|
UTSW |
4 |
135,432,457 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5493:Ifnlr1
|
UTSW |
4 |
135,432,877 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5913:Ifnlr1
|
UTSW |
4 |
135,432,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Ifnlr1
|
UTSW |
4 |
135,432,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Ifnlr1
|
UTSW |
4 |
135,432,652 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6032:Ifnlr1
|
UTSW |
4 |
135,432,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6032:Ifnlr1
|
UTSW |
4 |
135,432,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6136:Ifnlr1
|
UTSW |
4 |
135,431,108 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7018:Ifnlr1
|
UTSW |
4 |
135,431,135 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7651:Ifnlr1
|
UTSW |
4 |
135,417,919 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8945:Ifnlr1
|
UTSW |
4 |
135,431,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Ifnlr1
|
UTSW |
4 |
135,428,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Ifnlr1
|
UTSW |
4 |
135,426,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Ifnlr1
|
UTSW |
4 |
135,426,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTTTCTGAGGACTTGGGCAC -3'
(R):5'- AAGGGACATGACTCTCGGAG -3'
Sequencing Primer
(F):5'- CACCGTGGAAGAGCCTCTGAAG -3'
(R):5'- ACATGACTCTCGGAGGTGTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation