Incidental Mutation 'R8457:Irf7'
ID |
655068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irf7
|
Ensembl Gene |
ENSMUSG00000025498 |
Gene Name |
interferon regulatory factor 7 |
Synonyms |
|
MMRRC Submission |
067834-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8457 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
140843096-140846412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140843194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 440
(N440D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026571]
[ENSMUST00000097952]
[ENSMUST00000106023]
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000155123]
[ENSMUST00000209899]
|
AlphaFold |
P70434 |
PDB Structure |
Crystal structure of IRF-7 DBD apo form [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026571
AA Change: N440D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026571 Gene: ENSMUSG00000025498 AA Change: N440D
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 |
possibly damaging
Transcript: ENSMUST00000097952
AA Change: N409D
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095565 Gene: ENSMUSG00000025498 AA Change: N409D
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 |
possibly damaging
Transcript: ENSMUST00000106023
AA Change: N408D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101644 Gene: ENSMUSG00000025498 AA Change: N408D
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 |
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: 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: 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: ENSMUST00000209899
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,968,929 (GRCm39) |
S722T |
probably damaging |
Het |
Creld1 |
T |
C |
6: 113,468,699 (GRCm39) |
|
probably null |
Het |
Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,345,572 (GRCm39) |
I423F |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
Ivns1abp |
T |
A |
1: 151,229,761 (GRCm39) |
L150M |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
Slc6a13 |
G |
A |
6: 121,303,063 (GRCm39) |
|
probably null |
Het |
Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,923,352 (GRCm39) |
S276R |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,078 (GRCm39) |
V79A |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
possibly damaging |
Het |
|
Other mutations in Irf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Irf7
|
APN |
7 |
140,844,553 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTAGCCTAGCCAGTTCTTG -3'
(R):5'- AAGACCCTGATCCTGGTGAAG -3'
Sequencing Primer
(F):5'- AGCCTAGCCAGTTCTTGATTATG -3'
(R):5'- GGTAGAGCCTGGGTGGG -3'
|
Posted On |
2020-10-20 |