Incidental Mutation 'R4473:Ifnar1'
| ID | 330470 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Ifnar1
|
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| Ensembl Gene |
ENSMUSG00000022967 |
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| Gene Name | interferon (alpha and beta) receptor 1 |
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| Synonyms | Ifar, Ifrc, IFN-alpha/betaR |
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| MMRRC Submission |
041730-MU
|
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| Accession Numbers |
Ncbi RefSeq: NM_010508; VEGA: OTTMUST00000067225; MGI: 107658;
|
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | R4473 (G1)
|
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| Quality Score | 225 |
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| Status |
Validated
|
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| Chromosome | 16 |
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| Chromosomal Location | 91485238-91507441 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 91495170 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000119160
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023689]
[ENSMUST00000117748]
[ENSMUST00000123196]
[ENSMUST00000129878]
[ENSMUST00000232509]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023689
AA Change: V133A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
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| SMART Domains |
Protein: ENSMUSP00000023689
Gene: ENSMUSG00000022967
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
FN3
|
29 |
110 |
6.97e0 |
SMART |
|
FN3
|
128 |
213 |
7.02e1 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
FN3
|
332 |
409 |
3.23e0 |
SMART |
|
PDB:4PO6|B
|
469 |
499 |
3e-7 |
PDB |
|
low complexity region
|
550 |
562 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117748
AA Change: V133A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
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| SMART Domains |
Protein: ENSMUSP00000112670
Gene: ENSMUSG00000022967
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
FN3
|
29 |
110 |
6.97e0 |
SMART |
|
FN3
|
128 |
213 |
7.02e1 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
FN3
|
332 |
409 |
3.23e0 |
SMART |
|
PDB:4PO6|B
|
469 |
499 |
3e-7 |
PDB |
|
low complexity region
|
550 |
562 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123196
AA Change: V133A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
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| SMART Domains |
Protein: ENSMUSP00000119160
Gene: ENSMUSG00000022967
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
FN3
|
29 |
110 |
6.97e0 |
SMART |
|
FN3
|
128 |
213 |
7.02e1 |
SMART |
|
low complexity region
|
267 |
275 |
N/A |
INTRINSIC |
|
FN3
|
332 |
409 |
3.23e0 |
SMART |
|
PDB:4PO6|B
|
469 |
499 |
3e-7 |
PDB |
|
low complexity region
|
550 |
562 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129878
|
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| SMART Domains |
Protein: ENSMUSP00000120945
Gene: ENSMUSG00000022967
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
FN3
|
29 |
110 |
6.97e0 |
SMART |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145008
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231604
|
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| Predicted Effect |
silent
Transcript: ENSMUST00000232509
|
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| Meta Mutation Damage Score |
0.5639
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
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| Validation Efficiency |
100% (36/36) |
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| 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 type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased susceptibility to viral infection, elevated levels of myeloid lineage cells in the peripheral blood and bone marrow, and reduced immune response to immunostimulatory DNA. [provided by MGI curators]
|
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| Allele List at MGI |
All alleles(10) : Targeted(5) Gene trapped(4) Chemically induced(1)
|
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| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,206,856 |
T93K |
probably damaging |
Het |
| Actg1 |
G |
A |
11: 120,348,259 |
R2C |
probably benign |
Het |
| Alb |
T |
C |
5: 90,464,053 |
C114R |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,680,018 |
T779A |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,457,264 |
S1008T |
probably benign |
Het |
| Corin |
T |
C |
5: 72,339,057 |
S510G |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,213,462 |
P585L |
probably damaging |
Het |
| Eddm3b |
A |
G |
14: 51,116,779 |
T75A |
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,261,009 |
|
probably null |
Het |
| Erc1 |
G |
T |
6: 119,848,456 |
|
probably null |
Het |
| Fancf |
A |
G |
7: 51,862,200 |
C19R |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,731,674 |
L63P |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,850,163 |
V128A |
possibly damaging |
Het |
| Gm3106 |
A |
G |
5: 94,218,170 |
N49S |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,055,339 |
Y79N |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,823,807 |
E7G |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,310,535 |
|
probably benign |
Het |
| Olfr1161 |
T |
A |
2: 88,025,120 |
Y133N |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,664,685 |
S100P |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,131,985 |
I505F |
possibly damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,511,978 |
Q228K |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,695,263 |
T85M |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 164,071,692 |
P131S |
probably damaging |
Het |
| Skor2 |
C |
T |
18: 76,859,461 |
P293S |
unknown |
Het |
| Sox18 |
T |
C |
2: 181,670,876 |
K154R |
probably damaging |
Het |
| Tfpi |
A |
T |
2: 84,458,082 |
L10Q |
probably null |
Het |
| Trim66 |
A |
T |
7: 109,481,995 |
I239N |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,492,609 |
K304N |
probably damaging |
Het |
| Vmn1r5 |
G |
A |
6: 56,985,648 |
V103I |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,894,891 |
W6R |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,015,995 |
Y651C |
probably benign |
Het |
|
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| Other mutations in Ifnar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Ifnar1
|
APN |
16 |
91489782 |
missense |
probably damaging |
0.99 |
|
IGL02183:Ifnar1
|
APN |
16 |
91505146 |
missense |
possibly damaging |
0.94 |
|
IGL02828:Ifnar1
|
APN |
16 |
91505416 |
critical splice donor site |
probably null |
|
|
macro-1
|
UTSW |
16 |
91499885 |
missense |
probably damaging |
0.98 |
|
shook
|
UTSW |
16 |
91499537 |
nonsense |
probably null |
|
|
sneffels
|
UTSW |
16 |
91501620 |
critical splice acceptor site |
probably null |
|
|
R0124:Ifnar1
|
UTSW |
16 |
91499537 |
nonsense |
probably null |
|
|
R0502:Ifnar1
|
UTSW |
16 |
91501751 |
missense |
probably damaging |
1.00 |
|
R0617:Ifnar1
|
UTSW |
16 |
91501682 |
missense |
probably damaging |
1.00 |
|
R1509:Ifnar1
|
UTSW |
16 |
91503496 |
missense |
probably damaging |
1.00 |
|
R4111:Ifnar1
|
UTSW |
16 |
91496158 |
missense |
probably damaging |
1.00 |
|
R4964:Ifnar1
|
UTSW |
16 |
91505086 |
missense |
probably benign |
0.08 |
|
R5497:Ifnar1
|
UTSW |
16 |
91505364 |
missense |
probably benign |
0.01 |
|
R6135:Ifnar1
|
UTSW |
16 |
91501620 |
critical splice acceptor site |
probably null |
|
|
R6398:Ifnar1
|
UTSW |
16 |
91505415 |
critical splice donor site |
probably null |
|
|
R6505:Ifnar1
|
UTSW |
16 |
91499537 |
nonsense |
probably null |
|
|
R6620:Ifnar1
|
UTSW |
16 |
91496267 |
splice site |
probably null |
|
|
R7229:Ifnar1
|
UTSW |
16 |
91499556 |
missense |
probably benign |
0.00 |
|
R7664:Ifnar1
|
UTSW |
16 |
91495194 |
missense |
probably damaging |
1.00 |
|
X0057:Ifnar1
|
UTSW |
16 |
91495424 |
missense |
probably damaging |
0.98 |
|
X0057:Ifnar1
|
UTSW |
16 |
91505283 |
missense |
possibly damaging |
0.92 |
|
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| Predicted Primers |
PCR Primer
(F):5'- TTCAGGTTGCTCTTGCCAGG -3'
(R):5'- CTGGCAAGAGTTCTGGTATCTTTTC -3'
Sequencing Primer
(F):5'- CCAGGTCTTCCCAAAGTGTGAAATG -3'
(R):5'- AATTCTTTCACCTCTATTTCTCTCAC -3'
|
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| Posted On | 2015-07-21 |
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