Incidental Mutation 'IGL01669:Irf4'
| ID |
103413 |
| 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 # |
IGL01669
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
30933209-30950959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30941454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 270
(S270I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021784]
[ENSMUST00000110307]
|
| AlphaFold |
Q64287 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021784
AA Change: S270I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: S270I
| 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: S269I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: S269I
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
| Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
| Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
| Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
| Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
| Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
| Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
| Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
| Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
| Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
| Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
| Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
| Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
| Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
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 |
|
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 |
2014-01-21 |
Incidental Mutation