Incidental Mutation 'IGL01285:Irf9'
| ID |
72695 |
| 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 # |
IGL01285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55841442-55847487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55845058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 258
(E258G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119477
(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: E240G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: E240G
| 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 benign
Transcript: ENSMUST00000134863
AA Change: E306G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: E306G
| 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: E258G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: E258G
| 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: 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: ENSMUST00000227708
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,893 (GRCm39) |
*755Y |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
| Asb18 |
A |
G |
1: 89,923,963 (GRCm39) |
V100A |
probably benign |
Het |
| Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
| Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
| Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
| Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
| Ggt7 |
A |
G |
2: 155,342,691 (GRCm39) |
V269A |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
| Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,031,273 (GRCm39) |
C404R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
| Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
| Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
| Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,811 (GRCm39) |
D49G |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
| Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
| Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
| Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
possibly damaging |
Het |
|
| Other mutations in Irf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02283:Irf9
|
APN |
14 |
55,845,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation