Incidental Mutation 'IGL02729:Irf4'
ID |
305393 |
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 # |
IGL02729
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
30933209-30950959 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 30937574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021784]
[ENSMUST00000110307]
[ENSMUST00000222125]
|
AlphaFold |
Q64287 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021784
|
SMART Domains |
Protein: ENSMUSP00000021784 Gene: ENSMUSG00000021356
Domain | Start | End | E-Value | Type |
IRF
|
17 |
130 |
6.96e-64 |
SMART |
IRF-3
|
249 |
418 |
1.17e-84 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110307
|
SMART Domains |
Protein: ENSMUSP00000105936 Gene: ENSMUSG00000021356
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
Hyal6 |
A |
C |
6: 24,734,694 (GRCm39) |
Y209S |
probably damaging |
Het |
Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
Mybl1 |
A |
T |
1: 9,742,795 (GRCm39) |
D604E |
probably benign |
Het |
Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
Pced1a |
A |
T |
2: 130,263,823 (GRCm39) |
H276Q |
probably benign |
Het |
Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,034,082 (GRCm39) |
M1V |
probably null |
Het |
Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
Taf1b |
A |
G |
12: 24,597,624 (GRCm39) |
|
probably benign |
Het |
Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
Zfp40 |
C |
T |
17: 23,397,285 (GRCm39) |
V3I |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
probably benign |
Het |
|
Other mutations in Irf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00580:Irf4
|
APN |
13 |
30,935,767 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |