Incidental Mutation 'R8852:Irf5'
| ID |
675055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf5
|
| Ensembl Gene |
ENSMUSG00000029771 |
| Gene Name |
interferon regulatory factor 5 |
| Synonyms |
mirf5 |
| MMRRC Submission |
068674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8852 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29526624-29541870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29535997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 337
(R337H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004392
(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: R337H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: R337H
| 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: R337H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: R337H
| 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: R337H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
AA Change: R337H
| 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 |
|
| Meta Mutation Damage Score |
0.9363 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
| Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,763,989 (GRCm39) |
V1304L |
possibly damaging |
Het |
| Ago4 |
A |
T |
4: 126,387,043 (GRCm39) |
D853E |
probably benign |
Het |
| Arvcf |
C |
A |
16: 18,222,203 (GRCm39) |
D790E |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 60,162,545 (GRCm39) |
D725E |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Camkk2 |
T |
C |
5: 122,891,820 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ccdc106 |
A |
G |
7: 5,062,570 (GRCm39) |
D192G |
probably benign |
Het |
| Ccm2l |
T |
C |
2: 152,916,788 (GRCm39) |
Y340H |
probably damaging |
Het |
| Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,076,407 (GRCm39) |
S435P |
possibly damaging |
Het |
| Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
| Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,215,620 (GRCm39) |
D718G |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
| Dcpp3 |
G |
T |
17: 24,138,123 (GRCm39) |
E94* |
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,642,853 (GRCm39) |
Y120H |
unknown |
Het |
| Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,244 (GRCm39) |
D242G |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,236,996 (GRCm39) |
M192T |
possibly damaging |
Het |
| Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,526,624 (GRCm39) |
V189A |
possibly damaging |
Het |
| Letmd1 |
A |
G |
15: 100,373,247 (GRCm39) |
T241A |
probably benign |
Het |
| Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
| Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
| Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,569,461 (GRCm39) |
T236A |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
| Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
| Or5v1 |
G |
A |
17: 37,810,321 (GRCm39) |
V260M |
probably benign |
Het |
| Otof |
T |
C |
5: 30,529,044 (GRCm39) |
N1788S |
possibly damaging |
Het |
| Psapl1 |
T |
C |
5: 36,362,314 (GRCm39) |
L302S |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,624,844 (GRCm39) |
E2212G |
probably damaging |
Het |
| Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,436 (GRCm39) |
L60Q |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,060,349 (GRCm39) |
I531T |
probably damaging |
Het |
| Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
| Tars1 |
G |
T |
15: 11,393,348 (GRCm39) |
N115K |
probably benign |
Het |
| Tomm6 |
G |
C |
17: 47,998,850 (GRCm39) |
F34L |
possibly damaging |
Het |
| Txnrd2 |
G |
A |
16: 18,259,601 (GRCm39) |
V173M |
possibly damaging |
Het |
| Uba6 |
T |
A |
5: 86,289,454 (GRCm39) |
I450F |
possibly damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,664,113 (GRCm39) |
S516I |
possibly damaging |
Het |
| Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 14,072,150 (GRCm39) |
D30G |
probably benign |
Het |
| Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
possibly damaging |
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 |
|
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 |
|
|
R9351:Irf5
|
UTSW |
6 |
29,531,317 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCAGGAGCAAGTGGAAC -3'
(R):5'- ATTAGTCTGGCCCTTCTGGAAC -3'
Sequencing Primer
(F):5'- AGCAAGTGGAACTCTTTGGCC -3'
(R):5'- CTGCATCAAGATGAAGGCCTTTAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation