Incidental Mutation 'IGL02953:Irf5'
| ID |
364991 |
| 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 # |
IGL02953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29526624-29541870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29536671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 461
(H461N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004392]
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000163511]
[ENSMUST00000164626]
[ENSMUST00000164922]
[ENSMUST00000167252]
[ENSMUST00000170350]
|
| AlphaFold |
P56477 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004392
AA Change: H461N
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000004392
Gene: ENSMUSG00000029771
AA Change: H461N
| 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 |
possibly damaging
Transcript: ENSMUST00000163511
AA Change: H461N
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127021
Gene: ENSMUSG00000029771
AA Change: H461N
| 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 benign
Transcript: ENSMUST00000167252
|
| SMART Domains |
Protein: ENSMUSP00000126273
Gene: ENSMUSG00000029771
| 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 |
noncoding transcript
Transcript: ENSMUST00000171527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
| Adap2 |
G |
A |
11: 80,045,126 (GRCm39) |
G29R |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,877 (GRCm39) |
V372A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
| Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
| Dcbld2 |
T |
A |
16: 58,272,100 (GRCm39) |
D385E |
probably benign |
Het |
| Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
| Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,383,173 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
| Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
| Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,517,527 (GRCm39) |
V155A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
| Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
| Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
| Txnip |
T |
A |
3: 96,465,682 (GRCm39) |
V44D |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
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 |
|
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 |
2015-12-18 |
Incidental Mutation