Incidental Mutation 'IGL02283:Irf9'
| ID |
289903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irf9
|
| Ensembl Gene |
ENSMUSG00000002325 |
| Gene Name |
interferon regulatory factor 9 |
| Synonyms |
p48, Isgf3g, Irf-9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL02283
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55841442-55847487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55845196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 352
(R352H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000130697]
[ENSMUST00000134863]
[ENSMUST00000138037]
|
| AlphaFold |
Q61179 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019443
|
| SMART Domains |
Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:PUB
|
68 |
148 |
7.1e-17 |
PFAM |
|
low complexity region
|
262 |
294 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
298 |
322 |
2.56e-1 |
SMART |
|
ZnF_RBZ
|
346 |
370 |
6.93e-5 |
SMART |
|
ZnF_RBZ
|
405 |
429 |
4.86e-1 |
SMART |
|
Pfam:HOIP-UBA
|
477 |
622 |
2.4e-54 |
PFAM |
|
Blast:RING
|
693 |
741 |
7e-25 |
BLAST |
|
IBR
|
773 |
835 |
3.18e-14 |
SMART |
|
IBR
|
847 |
924 |
5.35e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126269
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130697
AA Change: R286H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: R286H
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
5 |
117 |
1.19e-53 |
SMART |
|
low complexity region
|
158 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
IRF-3
|
211 |
377 |
1.13e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134863
AA Change: R352H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: R352H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
58 |
N/A |
INTRINSIC |
|
IRF
|
71 |
183 |
1.19e-53 |
SMART |
|
low complexity region
|
224 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
260 |
N/A |
INTRINSIC |
|
IRF-3
|
277 |
443 |
1.13e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136109
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138037
AA Change: R304H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: R304H
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
23 |
135 |
1.19e-53 |
SMART |
|
low complexity region
|
176 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
212 |
N/A |
INTRINSIC |
|
IRF-3
|
229 |
395 |
1.13e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140178
|
| SMART Domains |
Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OYJ|M
|
2 |
85 |
1e-29 |
PDB |
|
low complexity region
|
164 |
196 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
200 |
224 |
2.56e-1 |
SMART |
|
ZnF_RBZ
|
248 |
272 |
6.93e-5 |
SMART |
|
ZnF_RBZ
|
307 |
331 |
4.86e-1 |
SMART |
|
Pfam:HOIP-UBA
|
369 |
468 |
1.1e-31 |
PFAM |
|
Blast:RING
|
539 |
587 |
9e-25 |
BLAST |
|
IBR
|
619 |
681 |
3.18e-14 |
SMART |
|
IBR
|
693 |
770 |
5.35e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226275
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, antivirus response induced by Ifn alfpha and Ifn gamma are impaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,331,759 (GRCm39) |
Y682C |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,609,450 (GRCm39) |
|
probably null |
Het |
| Arhgap1 |
A |
G |
2: 91,501,121 (GRCm39) |
N399S |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,254,248 (GRCm39) |
I511N |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,906,935 (GRCm39) |
C1428S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,948,943 (GRCm39) |
T190A |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,731,251 (GRCm39) |
D318E |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,125,912 (GRCm39) |
V1898E |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,802,671 (GRCm39) |
M1095T |
probably damaging |
Het |
| Gypa |
G |
A |
8: 81,220,721 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,365,168 (GRCm39) |
T1633A |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,277,933 (GRCm39) |
V512A |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,778,956 (GRCm39) |
N1571D |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,265 (GRCm39) |
D846G |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,593,102 (GRCm39) |
T192S |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,209,162 (GRCm39) |
D263G |
probably benign |
Het |
| Or4d11 |
A |
G |
19: 12,013,219 (GRCm39) |
S296P |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,379 (GRCm39) |
S250P |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,815 (GRCm39) |
S863T |
probably damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,293 (GRCm39) |
N208K |
probably benign |
Het |
| Sftpd |
A |
T |
14: 40,894,423 (GRCm39) |
V332D |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,956,718 (GRCm39) |
D321G |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,001,268 (GRCm39) |
N122K |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,630,432 (GRCm39) |
F1170Y |
probably damaging |
Het |
| Spata7 |
A |
C |
12: 98,624,517 (GRCm39) |
T140P |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,694,356 (GRCm39) |
L497S |
probably damaging |
Het |
|
| Other mutations in Irf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Irf9
|
APN |
14 |
55,845,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02317:Irf9
|
APN |
14 |
55,845,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02407:Irf9
|
APN |
14 |
55,842,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Adjunctive
|
UTSW |
14 |
55,843,255 (GRCm39) |
nonsense |
probably null |
|
|
Long_lost
|
UTSW |
14 |
55,843,367 (GRCm39) |
splice site |
probably null |
|
|
supportive
|
UTSW |
14 |
55,846,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Irf9
|
UTSW |
14 |
55,843,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0233:Irf9
|
UTSW |
14 |
55,843,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1959:Irf9
|
UTSW |
14 |
55,845,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2324:Irf9
|
UTSW |
14 |
55,843,367 (GRCm39) |
splice site |
probably null |
|
|
R4669:Irf9
|
UTSW |
14 |
55,843,223 (GRCm39) |
missense |
probably benign |
|
|
R4882:Irf9
|
UTSW |
14 |
55,846,496 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5393:Irf9
|
UTSW |
14 |
55,843,914 (GRCm39) |
unclassified |
probably benign |
|
|
R6072:Irf9
|
UTSW |
14 |
55,843,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Irf9
|
UTSW |
14 |
55,845,109 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6337:Irf9
|
UTSW |
14 |
55,843,799 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6545:Irf9
|
UTSW |
14 |
55,842,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Irf9
|
UTSW |
14 |
55,846,414 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7956:Irf9
|
UTSW |
14 |
55,846,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8145:Irf9
|
UTSW |
14 |
55,843,255 (GRCm39) |
nonsense |
probably null |
|
|
R8326:Irf9
|
UTSW |
14 |
55,843,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9002:Irf9
|
UTSW |
14 |
55,845,140 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9293:Irf9
|
UTSW |
14 |
55,846,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Irf9
|
UTSW |
14 |
55,842,129 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9747:Irf9
|
UTSW |
14 |
55,844,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF014:Irf9
|
UTSW |
14 |
55,843,334 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation