Incidental Mutation 'R1303:Ifnlr1'
| ID |
158471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifnlr1
|
| Ensembl Gene |
ENSMUSG00000062157 |
| Gene Name |
interferon lambda receptor 1 |
| Synonyms |
IFNLR1, Il28ra, CRF2-12 |
| MMRRC Submission |
039369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1303 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135413598-135435492 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135431528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 239
(I239T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074408]
|
| AlphaFold |
Q8CGK5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074408
AA Change: I239T
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: I239T
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.7%
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfy1 |
A |
G |
11: 72,640,897 (GRCm39) |
|
probably null |
Het |
| Fubp3 |
T |
A |
2: 31,490,532 (GRCm39) |
L212H |
probably damaging |
Het |
| Hecw2 |
G |
T |
1: 54,079,552 (GRCm39) |
Q34K |
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 191,959,010 (GRCm39) |
L188P |
probably damaging |
Het |
| Nbl1 |
A |
G |
4: 138,812,778 (GRCm39) |
S52P |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,733,948 (GRCm39) |
E113G |
probably damaging |
Het |
| Psd4 |
T |
C |
2: 24,285,030 (GRCm39) |
V298A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,120,390 (GRCm39) |
T237A |
possibly damaging |
Het |
| Trim46 |
T |
A |
3: 89,149,515 (GRCm39) |
T290S |
probably benign |
Het |
| Trpc2 |
T |
C |
7: 101,737,368 (GRCm39) |
S387P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
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 |
|
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 |
|
R3020:Ifnlr1
|
UTSW |
4 |
135,433,041 (GRCm39) |
small deletion |
probably benign |
|
|
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'- AAGTACAGCCAGTTCTCTGAGCCC -3'
(R):5'- CTGGAAACTTAGCCCTACTTCCTGC -3'
Sequencing Primer
(F):5'- tctttgagacttggcttccac -3'
(R):5'- GCTACTCAACACCTCACTTCTATAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation