Incidental Mutation 'IGL02403:Irf2'
| ID |
291980 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irf2
|
| Ensembl Gene |
ENSMUSG00000031627 |
| Gene Name |
interferon regulatory factor 2 |
| Synonyms |
Irf-2, 9830146E22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
IGL02403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
47192767-47300493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 47299207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 334
(V334F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034041]
[ENSMUST00000210218]
[ENSMUST00000210284]
|
| AlphaFold |
P23906 |
| PDB Structure |
INTERFERON REGULATORY FACTOR-2 DNA BINDING DOMAIN, NMR, MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
INTERFERON REGULATORY FACTOR-2 DNA BINDING DOMAIN, NMR, 20 STRUCTURES [SOLUTION NMR]
CRYSTAL STRUCTURE OF AN IRF-2/DNA COMPLEX. [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034041
AA Change: V334F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034041
Gene: ENSMUSG00000031627
AA Change: V334F
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
114 |
4.09e-61 |
SMART |
|
low complexity region
|
115 |
132 |
N/A |
INTRINSIC |
|
Blast:IRF
|
247 |
301 |
3e-25 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210284
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in B lymphopoiesis and hematopoiesis, often die prematurely, show increased mortality following lymphocytic choriomeningitis virus infection, and develop an inflammatory skin disease involving CD8+ Tcells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
| Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,236,727 (GRCm39) |
D446G |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
| Arhgap28 |
T |
G |
17: 68,180,154 (GRCm39) |
D81A |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,382,185 (GRCm39) |
E451G |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,658,421 (GRCm39) |
T216S |
possibly damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
| Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
| Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
| Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
| Fdxacb1 |
T |
A |
9: 50,682,863 (GRCm39) |
S275R |
possibly damaging |
Het |
| Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
| Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
| Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
| Nek4 |
G |
T |
14: 30,686,008 (GRCm39) |
E314* |
probably null |
Het |
| Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
| Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
| Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
| Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
probably damaging |
Het |
|
| Other mutations in Irf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01976:Irf2
|
APN |
8 |
47,260,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Irf2
|
APN |
8 |
47,260,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03208:Irf2
|
APN |
8 |
47,260,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gentle
|
UTSW |
8 |
47,260,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
softie
|
UTSW |
8 |
47,260,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Irf2
|
UTSW |
8 |
47,271,886 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0053:Irf2
|
UTSW |
8 |
47,271,886 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0411:Irf2
|
UTSW |
8 |
47,299,096 (GRCm39) |
missense |
probably benign |
|
|
R1523:Irf2
|
UTSW |
8 |
47,290,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1888:Irf2
|
UTSW |
8 |
47,260,388 (GRCm39) |
nonsense |
probably null |
|
|
R1888:Irf2
|
UTSW |
8 |
47,260,388 (GRCm39) |
nonsense |
probably null |
|
|
R2059:Irf2
|
UTSW |
8 |
47,260,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Irf2
|
UTSW |
8 |
47,298,962 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2259:Irf2
|
UTSW |
8 |
47,290,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4691:Irf2
|
UTSW |
8 |
47,299,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5722:Irf2
|
UTSW |
8 |
47,271,831 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7163:Irf2
|
UTSW |
8 |
47,290,712 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7216:Irf2
|
UTSW |
8 |
47,246,591 (GRCm39) |
missense |
probably benign |
|
|
R7337:Irf2
|
UTSW |
8 |
47,260,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Irf2
|
UTSW |
8 |
47,260,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Irf2
|
UTSW |
8 |
47,271,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8436:Irf2
|
UTSW |
8 |
47,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8798:Irf2
|
UTSW |
8 |
47,260,349 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0053:Irf2
|
UTSW |
8 |
47,260,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation