Incidental Mutation 'IGL03197:Irf4'
| ID |
412880 |
| 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 # |
IGL03197
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
30933209-30950959 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 30947503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021784]
[ENSMUST00000110307]
|
| AlphaFold |
Q64287 |
| Predicted Effect |
probably benign
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 benign
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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,698,541 (GRCm39) |
W189R |
probably damaging |
Het |
| Abcb7 |
A |
T |
X: 103,327,797 (GRCm39) |
M704K |
possibly damaging |
Het |
| Anp32e |
A |
G |
3: 95,844,364 (GRCm39) |
D71G |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,298 (GRCm39) |
D353G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,731,898 (GRCm39) |
K2047E |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,555,361 (GRCm39) |
V394F |
probably damaging |
Het |
| Ddx43 |
G |
A |
9: 78,325,402 (GRCm39) |
M482I |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,350,089 (GRCm39) |
V2348E |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,083,263 (GRCm39) |
F304L |
probably damaging |
Het |
| Gabra3 |
A |
G |
X: 71,583,734 (GRCm39) |
I66T |
possibly damaging |
Het |
| Kif11 |
A |
G |
19: 37,395,475 (GRCm39) |
D578G |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,583,099 (GRCm39) |
S1006P |
probably benign |
Het |
| Mfsd14a |
A |
C |
3: 116,430,012 (GRCm39) |
S307A |
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,998,590 (GRCm39) |
T267A |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,630,958 (GRCm39) |
D62Y |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,073,584 (GRCm39) |
T1190A |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,372,463 (GRCm39) |
S84P |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Or4c104 |
A |
T |
2: 88,586,545 (GRCm39) |
I158K |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,910,548 (GRCm39) |
I90F |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,098 (GRCm39) |
I199T |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,477 (GRCm39) |
L269* |
probably null |
Het |
| Pigo |
A |
C |
4: 43,022,103 (GRCm39) |
M352R |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,660,591 (GRCm39) |
M343V |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,058 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,866 (GRCm39) |
K379R |
probably damaging |
Het |
| Rraga |
G |
A |
4: 86,494,513 (GRCm39) |
A120T |
probably damaging |
Het |
| Serpina3a |
C |
T |
12: 104,082,500 (GRCm39) |
A91V |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,807,073 (GRCm39) |
E779G |
probably damaging |
Het |
| Slc15a3 |
T |
G |
19: 10,832,443 (GRCm39) |
|
probably null |
Het |
| Smc1b |
C |
T |
15: 84,955,064 (GRCm39) |
D1063N |
possibly damaging |
Het |
| Speer1e |
T |
G |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Speer1k |
T |
A |
5: 11,000,501 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,231,040 (GRCm39) |
G183E |
probably damaging |
Het |
| Taf8 |
A |
G |
17: 47,809,127 (GRCm39) |
S112P |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,249,213 (GRCm39) |
L851P |
probably benign |
Het |
| Wapl |
G |
T |
14: 34,467,588 (GRCm39) |
V1182F |
possibly damaging |
Het |
| Zfp326 |
A |
G |
5: 106,039,059 (GRCm39) |
I231V |
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 |
|
IGL02729:Irf4
|
APN |
13 |
30,937,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation