Incidental Mutation 'IGL02405:Irf5'
ID |
292030 |
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 # |
IGL02405
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
29526624-29541870 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29535760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 258
(R258H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004392]
[ENSMUST00000163511]
[ENSMUST00000164626]
[ENSMUST00000164922]
[ENSMUST00000167252]
|
AlphaFold |
P56477 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004392
AA Change: R258H
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000004392 Gene: ENSMUSG00000029771 AA Change: R258H
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: R258H
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127021 Gene: ENSMUSG00000029771 AA Change: R258H
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: R258H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126273 Gene: ENSMUSG00000029771 AA Change: R258H
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,498,036 (GRCm39) |
S1434P |
possibly damaging |
Het |
Abcc12 |
G |
T |
8: 87,284,782 (GRCm39) |
Q278K |
probably damaging |
Het |
Adk |
A |
G |
14: 21,153,899 (GRCm39) |
K48R |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,366,462 (GRCm39) |
G267D |
probably damaging |
Het |
Bpifa6 |
T |
A |
2: 153,832,782 (GRCm39) |
L299* |
probably null |
Het |
Cblb |
G |
A |
16: 51,986,616 (GRCm39) |
A620T |
probably benign |
Het |
Cep128 |
C |
T |
12: 91,233,760 (GRCm39) |
R436H |
probably benign |
Het |
Chd4 |
A |
G |
6: 125,074,190 (GRCm39) |
D21G |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,963,592 (GRCm39) |
D30G |
possibly damaging |
Het |
Crybb2 |
A |
G |
5: 113,206,374 (GRCm39) |
Y154H |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,562,979 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,384,705 (GRCm39) |
R599G |
probably damaging |
Het |
Fcrl1 |
A |
C |
3: 87,293,074 (GRCm39) |
K244Q |
probably damaging |
Het |
Gm11992 |
A |
G |
11: 9,009,939 (GRCm39) |
N179S |
probably benign |
Het |
Hgfac |
A |
G |
5: 35,201,824 (GRCm39) |
D319G |
probably benign |
Het |
Mecr |
G |
A |
4: 131,590,303 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
G |
11: 59,023,428 (GRCm39) |
K650Q |
probably damaging |
Het |
Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 108,996,743 (GRCm39) |
|
probably null |
Het |
Saxo4 |
G |
A |
19: 10,451,930 (GRCm39) |
T406I |
probably damaging |
Het |
Serpinh1 |
A |
G |
7: 98,996,541 (GRCm39) |
M217T |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
Supt5 |
T |
C |
7: 28,015,249 (GRCm39) |
N969D |
probably benign |
Het |
Taf2 |
A |
T |
15: 54,897,551 (GRCm39) |
|
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,743,981 (GRCm39) |
F701L |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,149,792 (GRCm39) |
T222A |
probably benign |
Het |
Tshz3 |
A |
T |
7: 36,469,075 (GRCm39) |
N355Y |
possibly damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,178,620 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
A |
T |
1: 13,742,997 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
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 |
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 |
2015-04-16 |