Incidental Mutation 'R1339:Irf7'
| ID |
156960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf7
|
| Ensembl Gene |
ENSMUSG00000025498 |
| Gene Name |
interferon regulatory factor 7 |
| Synonyms |
|
| MMRRC Submission |
039404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1339 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140843096-140846412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140843617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 320
(R320C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026571]
[ENSMUST00000097952]
[ENSMUST00000106023]
[ENSMUST00000106027]
[ENSMUST00000122143]
[ENSMUST00000209899]
[ENSMUST00000155123]
|
| AlphaFold |
P70434 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026571
AA Change: R352C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498
AA Change: R352C
| 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 damaging
Transcript: ENSMUST00000097952
AA Change: R321C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498
AA Change: R321C
| 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 damaging
Transcript: ENSMUST00000106023
AA Change: R320C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101644
Gene: ENSMUSG00000025498
AA Change: R320C
| 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 |
unknown
Transcript: ENSMUST00000123525
AA Change: R188C
|
| SMART Domains |
Protein: ENSMUSP00000121026
Gene: ENSMUSG00000025498
AA Change: R188C
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
69 |
6.35e-3 |
SMART |
|
IRF-3
|
77 |
251 |
2.62e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156938
|
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.9%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,220,777 (GRCm39) |
N1385K |
probably benign |
Het |
| Cplane2 |
A |
G |
4: 140,945,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Dtnbp1 |
G |
A |
13: 45,076,696 (GRCm39) |
S237L |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,866 (GRCm39) |
T255A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,804 (GRCm39) |
T320P |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,510 (GRCm39) |
V169L |
probably benign |
Het |
| Marchf6 |
T |
C |
15: 31,486,548 (GRCm39) |
T336A |
probably benign |
Het |
| Masp1 |
C |
A |
16: 23,271,217 (GRCm39) |
C677F |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,966,196 (GRCm39) |
R323G |
possibly damaging |
Het |
| Or2a7 |
G |
C |
6: 43,151,544 (GRCm39) |
G208A |
probably benign |
Het |
| Or6k8-ps1 |
G |
T |
1: 173,979,777 (GRCm39) |
G232C |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,155 (GRCm39) |
Y496H |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,695,763 (GRCm39) |
C208Y |
probably damaging |
Het |
| Shc2 |
T |
G |
10: 79,462,250 (GRCm39) |
T298P |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,317,571 (GRCm39) |
L508F |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,199 (GRCm39) |
K74E |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAAAACCCAGGTAGATGGTG -3'
(R):5'- GCAGTAAGAACTTCAGAGCCCCAG -3'
Sequencing Primer
(F):5'- ACCCAGGTAGATGGTGTAGTG -3'
(R):5'- AGCCGGTGATCTTTCCCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation