Incidental Mutation 'IGL00580:Irf4'
| ID |
13558 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irf4
|
| Ensembl Gene |
ENSMUSG00000021356 |
| Gene Name |
interferon regulatory factor 4 |
| Synonyms |
IRF-4, Spip |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.590)
|
| Stock # |
IGL00580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
30933209-30950959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30935767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 107
(F107L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021784]
[ENSMUST00000110307]
[ENSMUST00000222125]
|
| AlphaFold |
Q64287 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021784
AA Change: F107L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: F107L
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
17 |
130 |
6.96e-64 |
SMART |
|
IRF-3
|
249 |
418 |
1.17e-84 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110307
AA Change: F107L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: F107L
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
17 |
130 |
6.96e-64 |
SMART |
|
IRF-3
|
248 |
417 |
1.17e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222125
|
| Coding Region Coverage |
|
| 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 IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display immune system abnormalities involving development of both T and B cells and affecting susceptibility to both bacterial and viral infections as well as impaired thermogenic gene expression and energy expenditure. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(2) Targeted, other(1) |
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,845 (GRCm39) |
Y406F |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,557,788 (GRCm39) |
N786K |
probably benign |
Het |
| Clcnka |
C |
T |
4: 141,118,712 (GRCm39) |
W391* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,599,508 (GRCm39) |
S882T |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 95,994,826 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
C |
A |
17: 32,743,849 (GRCm39) |
Y342* |
probably null |
Het |
| Fancg |
A |
T |
4: 43,003,910 (GRCm39) |
C506* |
probably null |
Het |
| Grid2 |
A |
T |
6: 64,322,573 (GRCm39) |
L524F |
probably damaging |
Het |
| Haao |
C |
T |
17: 84,142,359 (GRCm39) |
|
probably benign |
Het |
| Il17re |
A |
G |
6: 113,446,560 (GRCm39) |
D256G |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,355,691 (GRCm39) |
I232F |
probably benign |
Het |
| Kmt2b |
T |
A |
7: 30,285,938 (GRCm39) |
|
probably benign |
Het |
| Maoa |
T |
C |
X: 16,547,085 (GRCm39) |
V380A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,126,008 (GRCm39) |
T1121A |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,870 (GRCm39) |
T3878A |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,549,370 (GRCm39) |
R331W |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Psen1 |
C |
T |
12: 83,777,343 (GRCm39) |
S329F |
probably benign |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,190,673 (GRCm39) |
T50A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,773,501 (GRCm39) |
S1148T |
probably damaging |
Het |
| Zfp599 |
G |
T |
9: 22,160,768 (GRCm39) |
Q466K |
possibly damaging |
Het |
| Zfp964 |
A |
G |
8: 70,112,043 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Irf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Irf4
|
APN |
13 |
30,941,404 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01669:Irf4
|
APN |
13 |
30,941,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02729:Irf4
|
APN |
13 |
30,937,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03197:Irf4
|
APN |
13 |
30,947,503 (GRCm39) |
splice site |
probably benign |
|
|
honey
|
UTSW |
13 |
30,935,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Honey2
|
UTSW |
13 |
30,945,473 (GRCm39) |
splice site |
probably benign |
|
|
miel
|
UTSW |
13 |
30,945,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1300:Irf4
|
UTSW |
13 |
30,941,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1656:Irf4
|
UTSW |
13 |
30,941,485 (GRCm39) |
missense |
probably benign |
|
|
R1914:Irf4
|
UTSW |
13 |
30,945,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1915:Irf4
|
UTSW |
13 |
30,945,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3889:Irf4
|
UTSW |
13 |
30,945,473 (GRCm39) |
splice site |
probably benign |
|
|
R4648:Irf4
|
UTSW |
13 |
30,947,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5553:Irf4
|
UTSW |
13 |
30,935,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Irf4
|
UTSW |
13 |
30,941,741 (GRCm39) |
missense |
probably benign |
|
|
R7809:Irf4
|
UTSW |
13 |
30,941,415 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7894:Irf4
|
UTSW |
13 |
30,937,435 (GRCm39) |
missense |
probably benign |
|
|
R8051:Irf4
|
UTSW |
13 |
30,945,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8393:Irf4
|
UTSW |
13 |
30,947,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Irf4
|
UTSW |
13 |
30,945,433 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8856:Irf4
|
UTSW |
13 |
30,945,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Irf4
|
UTSW |
13 |
30,941,484 (GRCm39) |
missense |
probably benign |
|
|
R9352:Irf4
|
UTSW |
13 |
30,936,706 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Irf4
|
UTSW |
13 |
30,934,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Irf4
|
UTSW |
13 |
30,934,644 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation