Incidental Mutation 'R2324:Irf9'
| ID |
244860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf9
|
| Ensembl Gene |
ENSMUSG00000002325 |
| Gene Name |
interferon regulatory factor 9 |
| Synonyms |
p48, Isgf3g, Irf-9 |
| MMRRC Submission |
040315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R2324 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55841442-55847487 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 55843367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000130697
|
| SMART Domains |
Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
| 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 null
Transcript: ENSMUST00000134863
|
| SMART Domains |
Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
| 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 null
Transcript: ENSMUST00000138037
|
| SMART Domains |
Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
| 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: ENSMUST00000226275
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
| Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
| Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
| Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
| Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
| Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
| Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
| Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
| Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTGGGCACTGTTTAAG -3'
(R):5'- ACTTCGCTTGCATGGTGATTTC -3'
Sequencing Primer
(F):5'- CTTGGGCACTGTTTAAGGAAAAGC -3'
(R):5'- CTGTGGAAATGTTGCAGGCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation