Incidental Mutation 'R6545:Irf9'
ID |
521142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irf9
|
Ensembl Gene |
ENSMUSG00000002325 |
Gene Name |
interferon regulatory factor 9 |
Synonyms |
p48, Isgf3g, Irf-9 |
MMRRC Submission |
044671-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.210)
|
Stock # |
R6545 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55841442-55847487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55842684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 59
(F59L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120359
(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: F59L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120359 Gene: ENSMUSG00000002325 AA Change: F59L
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: F125L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120525 Gene: ENSMUSG00000002325 AA Change: F125L
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: F77L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119477 Gene: ENSMUSG00000002325 AA Change: F77L
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000145680
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226275
|
Meta Mutation Damage Score |
0.9415 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
95% (42/44) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago1 |
C |
T |
4: 126,348,145 (GRCm39) |
A58T |
possibly damaging |
Het |
Ago4 |
T |
A |
4: 126,405,811 (GRCm39) |
Q366L |
probably benign |
Het |
Card10 |
C |
A |
15: 78,661,010 (GRCm39) |
G950V |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,173,279 (GRCm39) |
V303D |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,672,319 (GRCm39) |
R2917H |
probably benign |
Het |
Cit |
A |
G |
5: 115,984,493 (GRCm39) |
S22G |
probably null |
Het |
Cog4 |
A |
G |
8: 111,607,577 (GRCm39) |
E666G |
probably damaging |
Het |
Crocc2 |
A |
G |
1: 93,140,659 (GRCm39) |
D1103G |
probably benign |
Het |
Cttnbp2 |
A |
T |
6: 18,405,278 (GRCm39) |
|
probably null |
Het |
Dctn3 |
T |
C |
4: 41,723,084 (GRCm39) |
E16G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,021,715 (GRCm39) |
S3536P |
probably damaging |
Het |
Eef2 |
T |
A |
10: 81,016,948 (GRCm39) |
I675N |
probably damaging |
Het |
Gga3 |
A |
G |
11: 115,477,995 (GRCm39) |
F531S |
possibly damaging |
Het |
Gm19410 |
A |
G |
8: 36,257,652 (GRCm39) |
R697G |
possibly damaging |
Het |
Gm3173 |
T |
A |
14: 15,728,395 (GRCm39) |
M18K |
possibly damaging |
Het |
Gm5800 |
A |
T |
14: 51,949,419 (GRCm39) |
S175R |
possibly damaging |
Het |
Gria2 |
T |
C |
3: 80,648,451 (GRCm39) |
K95R |
probably damaging |
Het |
Gstm6 |
A |
G |
3: 107,849,681 (GRCm39) |
I76T |
probably damaging |
Het |
Harbi1 |
T |
G |
2: 91,542,640 (GRCm39) |
Y34D |
probably damaging |
Het |
Hectd2 |
C |
A |
19: 36,564,778 (GRCm39) |
Q20K |
probably benign |
Het |
Inpp5f |
C |
A |
7: 128,296,280 (GRCm39) |
A250D |
possibly damaging |
Het |
Itgam |
T |
A |
7: 127,707,044 (GRCm39) |
M625K |
probably damaging |
Het |
Kcnh5 |
C |
T |
12: 75,054,432 (GRCm39) |
R504Q |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,052,793 (GRCm39) |
T1389A |
probably benign |
Het |
Lin54 |
T |
A |
5: 100,632,996 (GRCm39) |
|
probably null |
Het |
Mettl23 |
A |
G |
11: 116,740,042 (GRCm39) |
D171G |
possibly damaging |
Het |
Mgll |
A |
G |
6: 88,802,685 (GRCm39) |
N296S |
probably benign |
Het |
Mpv17 |
T |
A |
5: 31,302,041 (GRCm39) |
|
probably benign |
Het |
Myof |
A |
T |
19: 37,930,745 (GRCm39) |
M1001K |
possibly damaging |
Het |
Myom1 |
A |
T |
17: 71,389,300 (GRCm39) |
Q850L |
probably benign |
Het |
Or10ab5 |
A |
T |
7: 108,245,662 (GRCm39) |
N40K |
probably damaging |
Het |
Pias2 |
A |
G |
18: 77,217,781 (GRCm39) |
I328V |
possibly damaging |
Het |
Polh |
G |
A |
17: 46,493,685 (GRCm39) |
P311S |
possibly damaging |
Het |
Prss34 |
A |
T |
17: 25,517,809 (GRCm39) |
R61S |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,840,237 (GRCm39) |
M280K |
probably damaging |
Het |
Rpsa |
A |
G |
9: 119,959,323 (GRCm39) |
H47R |
probably benign |
Het |
Rtp3 |
A |
G |
9: 110,815,894 (GRCm39) |
V219A |
possibly damaging |
Het |
Smarcc2 |
T |
C |
10: 128,319,997 (GRCm39) |
I790T |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,296,614 (GRCm39) |
T491A |
possibly damaging |
Het |
Svil |
C |
T |
18: 5,108,621 (GRCm39) |
H2007Y |
probably benign |
Het |
Togaram1 |
T |
G |
12: 65,024,981 (GRCm39) |
C750G |
possibly damaging |
Het |
Vmn2r13 |
A |
T |
5: 109,304,806 (GRCm39) |
|
probably null |
Het |
Vmn2r4 |
A |
T |
3: 64,313,777 (GRCm39) |
D401E |
possibly damaging |
Het |
Wdr97 |
C |
T |
15: 76,247,578 (GRCm39) |
R1585C |
probably damaging |
Het |
Wsb1 |
A |
T |
11: 79,141,881 (GRCm39) |
D45E |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,709 (GRCm39) |
Y313N |
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 |
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 |
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'- TCAGGCAAAGTACGCTGCAC -3'
(R):5'- ATGTCTCTCCAAAAGACATGGTTGG -3'
Sequencing Primer
(F):5'- GTACGCTGCACCCGAAAG -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
Posted On |
2018-06-06 |