Incidental Mutation 'IGL01314:Irf8'
ID |
73794 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Irf8
|
Ensembl Gene |
ENSMUSG00000041515 |
Gene Name |
interferon regulatory factor 8 |
Synonyms |
ICSBP, Myls, IRF-8, Icsbp1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01314
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
121463097-121483433 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121480119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047737]
[ENSMUST00000127664]
[ENSMUST00000160943]
[ENSMUST00000162001]
[ENSMUST00000162658]
|
AlphaFold |
P23611 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047737
AA Change: Y210C
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040245 Gene: ENSMUSG00000041515 AA Change: Y210C
Domain | Start | End | E-Value | Type |
IRF
|
3 |
115 |
8.69e-65 |
SMART |
Blast:IRF
|
129 |
176 |
7e-11 |
BLAST |
IRF-3
|
202 |
380 |
2.63e-78 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160594
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160943
AA Change: Y119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125447 Gene: ENSMUSG00000041515 AA Change: Y119C
Domain | Start | End | E-Value | Type |
IRF
|
3 |
85 |
2.54e-16 |
SMART |
IRF-3
|
111 |
289 |
2.63e-78 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162001
AA Change: Y210C
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125029 Gene: ENSMUSG00000041515 AA Change: Y210C
Domain | Start | End | E-Value | Type |
IRF
|
3 |
115 |
8.69e-65 |
SMART |
Blast:IRF
|
129 |
176 |
7e-11 |
BLAST |
IRF-3
|
202 |
380 |
2.63e-78 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162658
AA Change: Y119C
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125443 Gene: ENSMUSG00000041515 AA Change: Y119C
Domain | Start | End | E-Value | Type |
IRF
|
3 |
85 |
2.54e-16 |
SMART |
Pfam:IRF-3
|
111 |
151 |
4.7e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a transcription factor that belongs to the interferon regulatory factor family. Proteins belonging to this family have a DNA binding domain at the amino terminus that contains five well-conserved tryptophan-rich repeats. This domain recognizes DNA sequences similar to the interferon-stimulated response element. The protein encoded by this gene promotes or suppresses lineage-specific genes to regulate the differentation of lymphoid and myeloid lineage cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased incidence of viral infections, shortened life span, deregulated hematopoiesis, and hematological neoplasias. Heterozygotes show similar, but milder, phenotypes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,434,837 (GRCm39) |
F395S |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,014 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
Klk1b4 |
T |
C |
7: 43,860,600 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,104 (GRCm39) |
F132S |
probably damaging |
Het |
Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
C |
A |
18: 42,706,374 (GRCm39) |
A1017D |
probably damaging |
Het |
Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
probably damaging |
Het |
|
Other mutations in Irf8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02944:Irf8
|
APN |
8 |
121,481,864 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03024:Irf8
|
APN |
8 |
121,480,097 (GRCm39) |
missense |
probably damaging |
0.98 |
gemini
|
UTSW |
8 |
121,470,622 (GRCm39) |
nonsense |
probably null |
|
gemini2
|
UTSW |
8 |
121,480,446 (GRCm39) |
missense |
probably damaging |
0.97 |
glenn
|
UTSW |
8 |
121,466,581 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU74:Irf8
|
UTSW |
8 |
121,466,608 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0211:Irf8
|
UTSW |
8 |
121,466,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Irf8
|
UTSW |
8 |
121,466,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R0840:Irf8
|
UTSW |
8 |
121,480,220 (GRCm39) |
missense |
probably benign |
0.06 |
R1622:Irf8
|
UTSW |
8 |
121,466,561 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1715:Irf8
|
UTSW |
8 |
121,481,127 (GRCm39) |
missense |
probably damaging |
0.98 |
R2274:Irf8
|
UTSW |
8 |
121,480,266 (GRCm39) |
missense |
probably damaging |
0.99 |
R2875:Irf8
|
UTSW |
8 |
121,481,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R3743:Irf8
|
UTSW |
8 |
121,480,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Irf8
|
UTSW |
8 |
121,480,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R4729:Irf8
|
UTSW |
8 |
121,480,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R6343:Irf8
|
UTSW |
8 |
121,480,446 (GRCm39) |
missense |
probably damaging |
0.97 |
R6950:Irf8
|
UTSW |
8 |
121,481,864 (GRCm39) |
missense |
probably benign |
0.00 |
R7051:Irf8
|
UTSW |
8 |
121,466,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7052:Irf8
|
UTSW |
8 |
121,466,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7249:Irf8
|
UTSW |
8 |
121,466,571 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9153:Irf8
|
UTSW |
8 |
121,480,400 (GRCm39) |
missense |
probably benign |
|
R9613:Irf8
|
UTSW |
8 |
121,481,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-10-07 |