Incidental Mutation 'R5553:Irf4'
| ID |
435235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf4
|
| Ensembl Gene |
ENSMUSG00000021356 |
| Gene Name |
interferon regulatory factor 4 |
| Synonyms |
IRF-4, Spip |
| MMRRC Submission |
043110-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.590)
|
| Stock # |
R5553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
30933209-30950959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30935811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 122
(Y122C)
|
| 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: Y122C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021784
Gene: ENSMUSG00000021356
AA Change: Y122C
| 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: Y122C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105936
Gene: ENSMUSG00000021356
AA Change: Y122C
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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 |
|---|
| A1bg |
T |
A |
15: 60,792,690 (GRCm39) |
I86F |
probably damaging |
Het |
| Abca13 |
C |
T |
11: 9,278,158 (GRCm39) |
L3113F |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Ano8 |
T |
A |
8: 71,937,641 (GRCm39) |
|
probably null |
Het |
| Arid1b |
A |
T |
17: 5,364,152 (GRCm39) |
S1041C |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,987,620 (GRCm39) |
|
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,480,451 (GRCm39) |
E80G |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 17,605,875 (GRCm39) |
E271G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,868,309 (GRCm39) |
K658N |
possibly damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dppa1 |
T |
A |
11: 46,503,861 (GRCm39) |
|
probably null |
Het |
| Fen1 |
T |
C |
19: 10,177,787 (GRCm39) |
N219S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,793,090 (GRCm39) |
T416A |
probably benign |
Het |
| Gm14393 |
A |
T |
2: 174,903,639 (GRCm39) |
C89* |
probably null |
Het |
| Grin2c |
C |
T |
11: 115,143,551 (GRCm39) |
M736I |
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,060,780 (GRCm39) |
|
probably null |
Het |
| Hspbap1 |
G |
T |
16: 35,621,967 (GRCm39) |
W104L |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,895,622 (GRCm39) |
G1648E |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,960,776 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
C |
T |
1: 151,592,986 (GRCm39) |
T557M |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,228,082 (GRCm39) |
L169M |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,604 (GRCm39) |
S1200P |
possibly damaging |
Het |
| Or1j20 |
A |
G |
2: 36,760,477 (GRCm39) |
I300V |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,478 (GRCm39) |
S201T |
probably benign |
Het |
| Parp14 |
G |
T |
16: 35,677,306 (GRCm39) |
H887Q |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,980,637 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,822,565 (GRCm39) |
M392T |
probably benign |
Het |
| Plekhm3 |
T |
C |
1: 64,961,045 (GRCm39) |
S404G |
possibly damaging |
Het |
| Prelid3a |
T |
C |
18: 67,610,093 (GRCm39) |
L141P |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,186,090 (GRCm39) |
V1715E |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,288,323 (GRCm39) |
R420* |
probably null |
Het |
| Selenon |
C |
A |
4: 134,268,228 (GRCm39) |
R435L |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,791 (GRCm39) |
L425P |
probably damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,502,947 (GRCm39) |
|
probably null |
Het |
| Slc9a5 |
T |
C |
8: 106,083,672 (GRCm39) |
V404A |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,939,289 (GRCm39) |
D575V |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,721,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,725,110 (GRCm39) |
Q13R |
possibly damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,097,468 (GRCm39) |
L285F |
possibly damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,247,927 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGACGCTCTGGGCTTGAC -3'
(R):5'- TCTGCCAGGTCATCCTATACTAAC -3'
Sequencing Primer
(F):5'- GACGCTCTGGGCTTGACTTTTC -3'
(R):5'- CCACAGGGTTGTCACTTATAACAGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation