Incidental Mutation 'IGL00334:Irf7'
ID |
5094 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Irf7
|
Ensembl Gene |
ENSMUSG00000025498 |
Gene Name |
interferon regulatory factor 7 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00334
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
140843096-140846412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 140844553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 157
(S157T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026571]
[ENSMUST00000080654]
[ENSMUST00000097952]
[ENSMUST00000106023]
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000155123]
[ENSMUST00000209899]
[ENSMUST00000210773]
[ENSMUST00000167263]
|
AlphaFold |
P70434 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026571
AA Change: S157T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000026571 Gene: ENSMUSG00000025498 AA Change: S157T
Domain | Start | End | E-Value | Type |
IRF
|
5 |
127 |
1.13e-54 |
SMART |
IRF-3
|
240 |
420 |
1.38e-63 |
SMART |
low complexity region
|
425 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080654
|
SMART Domains |
Protein: ENSMUSP00000079484 Gene: ENSMUSG00000025497
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
53 |
125 |
3.78e-2 |
SMART |
CA
|
152 |
238 |
2.34e-1 |
SMART |
Blast:CA
|
277 |
355 |
3e-35 |
BLAST |
Blast:CA
|
388 |
458 |
3e-24 |
BLAST |
transmembrane domain
|
478 |
500 |
N/A |
INTRINSIC |
low complexity region
|
546 |
580 |
N/A |
INTRINSIC |
low complexity region
|
634 |
653 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097952
AA Change: S157T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095565 Gene: ENSMUSG00000025498 AA Change: S157T
Domain | Start | End | E-Value | Type |
IRF
|
5 |
127 |
1.13e-54 |
SMART |
IRF-3
|
209 |
389 |
1.38e-63 |
SMART |
low complexity region
|
394 |
411 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106023
|
SMART Domains |
Protein: ENSMUSP00000101644 Gene: ENSMUSG00000025498
Domain | Start | End | E-Value | Type |
IRF
|
5 |
127 |
1.13e-54 |
SMART |
IRF-3
|
208 |
388 |
1.38e-63 |
SMART |
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106027
|
SMART Domains |
Protein: ENSMUSP00000101648 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
low complexity region
|
39 |
70 |
N/A |
INTRINSIC |
RING
|
109 |
149 |
3.78e-5 |
SMART |
C1
|
173 |
229 |
7.05e-2 |
SMART |
PHD
|
187 |
233 |
1.77e-14 |
SMART |
RING
|
188 |
232 |
3.17e0 |
SMART |
low complexity region
|
332 |
369 |
N/A |
INTRINSIC |
low complexity region
|
491 |
505 |
N/A |
INTRINSIC |
low complexity region
|
507 |
522 |
N/A |
INTRINSIC |
low complexity region
|
717 |
728 |
N/A |
INTRINSIC |
low complexity region
|
831 |
857 |
N/A |
INTRINSIC |
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
low complexity region
|
944 |
955 |
N/A |
INTRINSIC |
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
low complexity region
|
999 |
1020 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1051 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1094 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1160 |
1173 |
N/A |
INTRINSIC |
low complexity region
|
1217 |
1241 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
low complexity region
|
1288 |
1306 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1319 |
N/A |
INTRINSIC |
low complexity region
|
1359 |
1376 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1441 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1592 |
N/A |
INTRINSIC |
Blast:IG_like
|
1593 |
1636 |
4e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122143
|
SMART Domains |
Protein: ENSMUSP00000113195 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
C1
|
14 |
70 |
7.05e-2 |
SMART |
PHD
|
28 |
74 |
1.77e-14 |
SMART |
low complexity region
|
173 |
210 |
N/A |
INTRINSIC |
low complexity region
|
332 |
346 |
N/A |
INTRINSIC |
low complexity region
|
348 |
363 |
N/A |
INTRINSIC |
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
low complexity region
|
672 |
698 |
N/A |
INTRINSIC |
low complexity region
|
732 |
743 |
N/A |
INTRINSIC |
low complexity region
|
785 |
796 |
N/A |
INTRINSIC |
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
low complexity region
|
840 |
861 |
N/A |
INTRINSIC |
low complexity region
|
868 |
884 |
N/A |
INTRINSIC |
low complexity region
|
892 |
931 |
N/A |
INTRINSIC |
low complexity region
|
935 |
992 |
N/A |
INTRINSIC |
low complexity region
|
1001 |
1014 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1082 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1102 |
N/A |
INTRINSIC |
low complexity region
|
1129 |
1147 |
N/A |
INTRINSIC |
low complexity region
|
1149 |
1160 |
N/A |
INTRINSIC |
low complexity region
|
1200 |
1217 |
N/A |
INTRINSIC |
low complexity region
|
1267 |
1282 |
N/A |
INTRINSIC |
low complexity region
|
1416 |
1433 |
N/A |
INTRINSIC |
Blast:IG_like
|
1434 |
1477 |
4e-14 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144250
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131399
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155744
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123525
|
SMART Domains |
Protein: ENSMUSP00000121026 Gene: ENSMUSG00000025498
Domain | Start | End | E-Value | Type |
IRF
|
1 |
69 |
6.35e-3 |
SMART |
IRF-3
|
77 |
251 |
2.62e-55 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155123
|
SMART Domains |
Protein: ENSMUSP00000120759 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
low complexity region
|
39 |
70 |
N/A |
INTRINSIC |
RING
|
109 |
149 |
3.78e-5 |
SMART |
Blast:C1
|
165 |
209 |
2e-17 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130687
|
SMART Domains |
Protein: ENSMUSP00000123351 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
low complexity region
|
100 |
115 |
N/A |
INTRINSIC |
low complexity region
|
224 |
241 |
N/A |
INTRINSIC |
Blast:IG_like
|
242 |
285 |
5e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142572
|
SMART Domains |
Protein: ENSMUSP00000117393 Gene: ENSMUSG00000038611
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
low complexity region
|
75 |
96 |
N/A |
INTRINSIC |
low complexity region
|
103 |
119 |
N/A |
INTRINSIC |
low complexity region
|
127 |
166 |
N/A |
INTRINSIC |
low complexity region
|
170 |
227 |
N/A |
INTRINSIC |
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
low complexity region
|
293 |
317 |
N/A |
INTRINSIC |
low complexity region
|
321 |
337 |
N/A |
INTRINSIC |
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
low complexity region
|
384 |
395 |
N/A |
INTRINSIC |
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
low complexity region
|
666 |
683 |
N/A |
INTRINSIC |
Blast:IG_like
|
684 |
727 |
3e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209899
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210773
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167263
|
SMART Domains |
Protein: ENSMUSP00000127292 Gene: ENSMUSG00000025497
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
53 |
125 |
3.78e-2 |
SMART |
CA
|
152 |
238 |
2.34e-1 |
SMART |
Blast:CA
|
277 |
355 |
3e-35 |
BLAST |
Blast:CA
|
388 |
458 |
1e-24 |
BLAST |
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
low complexity region
|
496 |
518 |
N/A |
INTRINSIC |
low complexity region
|
520 |
544 |
N/A |
INTRINSIC |
low complexity region
|
559 |
576 |
N/A |
INTRINSIC |
transmembrane domain
|
640 |
662 |
N/A |
INTRINSIC |
low complexity region
|
708 |
742 |
N/A |
INTRINSIC |
low complexity region
|
796 |
815 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice are more vulnerable to viral infection and exhibit decreased serum interferon levels in response to viral infection. [provided by MGI curators]
|
Allele List at MGI |
4 alleles |
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,834 (GRCm39) |
N197Y |
probably damaging |
Het |
Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
Other mutations in Irf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03275:Irf7
|
APN |
7 |
140,845,059 (GRCm39) |
missense |
probably damaging |
0.99 |
Houstonian
|
UTSW |
7 |
140,843,935 (GRCm39) |
missense |
probably damaging |
0.99 |
inept
|
UTSW |
7 |
140,845,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R0593:Irf7
|
UTSW |
7 |
140,844,975 (GRCm39) |
unclassified |
probably benign |
|
R1339:Irf7
|
UTSW |
7 |
140,843,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1442:Irf7
|
UTSW |
7 |
140,843,935 (GRCm39) |
missense |
probably damaging |
0.99 |
R4354:Irf7
|
UTSW |
7 |
140,845,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Irf7
|
UTSW |
7 |
140,844,648 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5444:Irf7
|
UTSW |
7 |
140,844,732 (GRCm39) |
unclassified |
probably benign |
|
R5795:Irf7
|
UTSW |
7 |
140,845,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7444:Irf7
|
UTSW |
7 |
140,843,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7535:Irf7
|
UTSW |
7 |
140,844,550 (GRCm39) |
missense |
probably benign |
0.10 |
R8357:Irf7
|
UTSW |
7 |
140,843,194 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8457:Irf7
|
UTSW |
7 |
140,843,194 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8683:Irf7
|
UTSW |
7 |
140,843,422 (GRCm39) |
missense |
probably null |
1.00 |
R9166:Irf7
|
UTSW |
7 |
140,844,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |