Incidental Mutation 'IGL01131:Irf5'
| ID |
51362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irf5
|
| Ensembl Gene |
ENSMUSG00000029771 |
| Gene Name |
interferon regulatory factor 5 |
| Synonyms |
mirf5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29526624-29541870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29536102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 372
(E372G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004392]
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000163511]
[ENSMUST00000164626]
[ENSMUST00000164922]
[ENSMUST00000167252]
|
| AlphaFold |
P56477 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004392
AA Change: E372G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: E372G
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
10 |
123 |
6.39e-63 |
SMART |
|
low complexity region
|
181 |
203 |
N/A |
INTRINSIC |
|
IRF-3
|
246 |
430 |
1.67e-89 |
SMART |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012679
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IBN_N
|
30 |
96 |
6e-35 |
BLAST |
|
Pfam:Xpo1
|
101 |
249 |
3.5e-30 |
PFAM |
|
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115251
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IBN_N
|
30 |
96 |
6e-35 |
BLAST |
|
Pfam:Xpo1
|
101 |
249 |
3e-30 |
PFAM |
|
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
844 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163511
AA Change: E372G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: E372G
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
10 |
123 |
6.39e-63 |
SMART |
|
low complexity region
|
181 |
203 |
N/A |
INTRINSIC |
|
IRF-3
|
246 |
430 |
1.67e-89 |
SMART |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164626
|
| SMART Domains |
Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
10 |
80 |
9.78e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164922
|
| SMART Domains |
Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
86 |
7.7e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167252
AA Change: E372G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: E372G
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
10 |
123 |
2.8e-65 |
SMART |
|
low complexity region
|
181 |
203 |
N/A |
INTRINSIC |
|
IRF-3
|
246 |
430 |
1.3e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170647
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
2 |
187 |
1e-5 |
SMART |
|
PDB:4C0P|D
|
2 |
247 |
1e-156 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous null mice exhibit resistance to lethal shock with a marked decrease in the serum levels of proinflammatory cytokines, but normal B cell development. Mice homozygous for another allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
| Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
| Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
| Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
| Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Irf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02405:Irf5
|
APN |
6 |
29,535,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02953:Irf5
|
APN |
6 |
29,536,671 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0099:Irf5
|
UTSW |
6 |
29,533,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0116:Irf5
|
UTSW |
6 |
29,536,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Irf5
|
UTSW |
6 |
29,535,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1827:Irf5
|
UTSW |
6 |
29,536,672 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1938:Irf5
|
UTSW |
6 |
29,536,738 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3969:Irf5
|
UTSW |
6 |
29,536,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4408:Irf5
|
UTSW |
6 |
29,534,000 (GRCm39) |
splice site |
probably null |
|
|
R4447:Irf5
|
UTSW |
6 |
29,535,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Irf5
|
UTSW |
6 |
29,531,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5555:Irf5
|
UTSW |
6 |
29,531,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5891:Irf5
|
UTSW |
6 |
29,529,424 (GRCm39) |
intron |
probably benign |
|
|
R6148:Irf5
|
UTSW |
6 |
29,535,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Irf5
|
UTSW |
6 |
29,535,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7274:Irf5
|
UTSW |
6 |
29,534,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Irf5
|
UTSW |
6 |
29,535,461 (GRCm39) |
missense |
probably benign |
|
|
R8790:Irf5
|
UTSW |
6 |
29,535,026 (GRCm39) |
splice site |
probably benign |
|
|
R8852:Irf5
|
UTSW |
6 |
29,535,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Irf5
|
UTSW |
6 |
29,531,317 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-06-21 |
Incidental Mutation