Incidental Mutation 'IGL01160:Irf3'
| ID |
53640 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irf3
|
| Ensembl Gene |
ENSMUSG00000003184 |
| Gene Name |
interferon regulatory factor 3 |
| Synonyms |
IRF-3, C920001K05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44647072-44652272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44648220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 28
(D28E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003284]
[ENSMUST00000003290]
[ENSMUST00000085383]
[ENSMUST00000107834]
[ENSMUST00000207128]
[ENSMUST00000209066]
[ENSMUST00000207521]
[ENSMUST00000207755]
[ENSMUST00000207443]
[ENSMUST00000207342]
[ENSMUST00000211735]
|
| AlphaFold |
P70671 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003284
AA Change: D28E
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184
AA Change: D28E
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
112 |
6.92e-50 |
SMART |
|
IRF-3
|
195 |
373 |
4.87e-73 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003290
|
| SMART Domains |
Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
197 |
N/A |
INTRINSIC |
|
SCOP:d1maz__
|
227 |
243 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085383
|
| SMART Domains |
Protein: ENSMUSP00000082501
Gene: ENSMUSG00000038406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
224 |
N/A |
INTRINSIC |
|
coiled coil region
|
269 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
775 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
776 |
833 |
6e-6 |
BLAST |
|
low complexity region
|
843 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
937 |
N/A |
INTRINSIC |
|
coiled coil region
|
963 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1098 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1146 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
1151 |
1194 |
2e-16 |
BLAST |
|
low complexity region
|
1225 |
1256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107834
AA Change: D28E
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184
AA Change: D28E
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
112 |
6.92e-50 |
SMART |
|
IRF-3
|
195 |
373 |
4.87e-73 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207129
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209066
AA Change: D28E
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207521
AA Change: D28E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207443
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207476
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207213
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211735
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
| Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
| Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
| Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
| Dpep2 |
C |
T |
8: 106,713,076 (GRCm39) |
V440M |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
| Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
| Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
| Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
| Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
| Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,368 (GRCm39) |
I183F |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,310,894 (GRCm39) |
S365P |
possibly damaging |
Het |
| Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
| Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,355,277 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,029,177 (GRCm39) |
F323I |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,678,517 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
| Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
probably damaging |
Het |
|
| Other mutations in Irf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Irf3
|
APN |
7 |
44,650,194 (GRCm39) |
missense |
probably benign |
|
|
IGL02334:Irf3
|
APN |
7 |
44,648,134 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02428:Irf3
|
APN |
7 |
44,648,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02647:Irf3
|
APN |
7 |
44,649,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0801:Irf3
|
UTSW |
7 |
44,650,058 (GRCm39) |
unclassified |
probably benign |
|
|
R2128:Irf3
|
UTSW |
7 |
44,651,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2981:Irf3
|
UTSW |
7 |
44,648,124 (GRCm39) |
splice site |
probably null |
|
|
R3746:Irf3
|
UTSW |
7 |
44,648,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5484:Irf3
|
UTSW |
7 |
44,649,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Irf3
|
UTSW |
7 |
44,650,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Irf3
|
UTSW |
7 |
44,649,889 (GRCm39) |
nonsense |
probably null |
|
|
R9189:Irf3
|
UTSW |
7 |
44,650,246 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2013-06-28 |
Incidental Mutation