Incidental Mutation 'R3743:Irf8'
| ID |
270452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf8
|
| Ensembl Gene |
ENSMUSG00000041515 |
| Gene Name |
interferon regulatory factor 8 |
| Synonyms |
ICSBP, Myls, IRF-8, Icsbp1 |
| MMRRC Submission |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
121463097-121483433 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121480310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 274
(R274C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047737]
[ENSMUST00000127664]
[ENSMUST00000160943]
[ENSMUST00000162001]
[ENSMUST00000162658]
|
| AlphaFold |
P23611 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047737
AA Change: R274C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040245
Gene: ENSMUSG00000041515
AA Change: R274C
| 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: R183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125447
Gene: ENSMUSG00000041515
AA Change: R183C
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
3 |
85 |
2.54e-16 |
SMART |
|
IRF-3
|
111 |
289 |
2.63e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162001
AA Change: R274C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125029
Gene: ENSMUSG00000041515
AA Change: R274C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125443
Gene: ENSMUSG00000041515
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
3 |
85 |
2.54e-16 |
SMART |
|
Pfam:IRF-3
|
111 |
151 |
4.7e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.9538 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
| Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
| Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
| Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
| Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
probably damaging |
Het |
|
| Other mutations in Irf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Irf8
|
APN |
8 |
121,480,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTCCCAGATGGTCATCAGC -3'
(R):5'- CGAGGTGACTTGGTACTGAC -3'
Sequencing Primer
(F):5'- AGATGGTCATCAGCTTCTACTACGG -3'
(R):5'- TACTGACCTCGGATGAACTGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation