Incidental Mutation 'R5555:Irf5'
| ID |
435331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf5
|
| Ensembl Gene |
ENSMUSG00000029771 |
| Gene Name |
interferon regulatory factor 5 |
| Synonyms |
mirf5 |
| MMRRC Submission |
043112-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29526624-29541870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29531145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 4
(S4P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004392]
[ENSMUST00000163511]
[ENSMUST00000164626]
[ENSMUST00000164922]
[ENSMUST00000167252]
|
| AlphaFold |
P56477 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004392
AA Change: S4P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: S4P
| 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: ENSMUST00000163511
AA Change: S4P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: S4P
| 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
AA Change: S4P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130548
Gene: ENSMUSG00000029771
AA Change: S4P
| 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 benign
Transcript: ENSMUST00000167252
AA Change: S4P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: S4P
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
| Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
| Map1s |
C |
T |
8: 71,369,751 (GRCm39) |
T941M |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,523 (GRCm39) |
I130F |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
| Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
| Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,347,921 (GRCm39) |
V210E |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
| Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,910,315 (GRCm39) |
D239G |
probably damaging |
Het |
| Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,798 (GRCm39) |
T49A |
probably benign |
Het |
| Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,028,852 (GRCm39) |
V238E |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
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 |
|
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 |
|
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'- TAGCACGGGAGTTTCCTTCTC -3'
(R):5'- CTTACCTTGAAGATGGTGTTGTCCC -3'
Sequencing Primer
(F):5'- AGAACTCACAGGCTGCGC -3'
(R):5'- GAAGATGGTGTTGTCCCCATCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation