Incidental Mutation 'R4408:Irf5'
| ID |
327757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf5
|
| Ensembl Gene |
ENSMUSG00000029771 |
| Gene Name |
interferon regulatory factor 5 |
| Synonyms |
mirf5 |
| MMRRC Submission |
041690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29526624-29541870 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 29534000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004392]
[ENSMUST00000163511]
[ENSMUST00000164626]
[ENSMUST00000164922]
[ENSMUST00000167252]
|
| AlphaFold |
P56477 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004392
AA Change: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: D82G
| 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 damaging
Transcript: ENSMUST00000163511
AA Change: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: D82G
| 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 null
Transcript: ENSMUST00000164626
|
| SMART Domains |
Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
10 |
80 |
9.78e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164922
AA Change: D45G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145299
Gene: ENSMUSG00000029771
AA Change: D45G
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
1 |
86 |
7.7e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167252
AA Change: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: D82G
| 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 |
|
| Meta Mutation Damage Score |
0.9284 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
A |
G |
17: 25,599,601 (GRCm39) |
V1588A |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,130,536 (GRCm39) |
M287L |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fndc5 |
A |
G |
4: 129,036,322 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
C |
A |
2: 103,898,409 (GRCm39) |
A99S |
possibly damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,728 (GRCm39) |
S245T |
possibly damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,872 (GRCm39) |
T125A |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,188 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,585,498 (GRCm39) |
N149K |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,368 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,297,513 (GRCm39) |
K3149N |
probably benign |
Het |
| Lrrn3 |
A |
G |
12: 41,504,041 (GRCm39) |
V92A |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,625 (GRCm39) |
I216K |
possibly damaging |
Het |
| Or9s18 |
A |
G |
13: 65,300,514 (GRCm39) |
T159A |
probably benign |
Het |
| Osr2 |
T |
C |
15: 35,300,617 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Pop5 |
C |
T |
5: 115,378,836 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,272,997 (GRCm39) |
C211R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sgsm2 |
C |
A |
11: 74,742,592 (GRCm39) |
R957L |
probably damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,106,560 (GRCm39) |
|
probably null |
Het |
| Spag17 |
T |
A |
3: 100,010,694 (GRCm39) |
Y2063N |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,353 (GRCm39) |
I142V |
probably benign |
Het |
| Vmn1r235 |
A |
G |
17: 21,481,854 (GRCm39) |
K60E |
probably damaging |
Het |
| Vmn2r33 |
A |
C |
7: 7,554,229 (GRCm39) |
F775V |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,709,440 (GRCm39) |
P1796S |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,378,149 (GRCm39) |
V480I |
probably benign |
Het |
|
| Other mutations in Irf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Irf5
|
APN |
6 |
29,536,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTTGGACAAGATCTGGTC -3'
(R):5'- CCAGAGTTCATAGCTTTCAGGTG -3'
Sequencing Primer
(F):5'- CACCTAATGAGCCTGTCTGG -3'
(R):5'- ATAGCTTTCAGGTGGTCACAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation