Incidental Mutation 'R4209:Irf8'
| ID |
319073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf8
|
| Ensembl Gene |
ENSMUSG00000041515 |
| Gene Name |
interferon regulatory factor 8 |
| Synonyms |
ICSBP, Myls, IRF-8, Icsbp1 |
| MMRRC Submission |
041038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
121463097-121483433 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121480208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 149
(Y149N)
|
| 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: Y240N
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040245
Gene: ENSMUSG00000041515
AA Change: Y240N
| 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: Y149N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125447
Gene: ENSMUSG00000041515
AA Change: Y149N
| 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: Y240N
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125029
Gene: ENSMUSG00000041515
AA Change: Y240N
| 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: Y149N
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125443
Gene: ENSMUSG00000041515
AA Change: Y149N
| 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 |
0.7280 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
| Ap3b2 |
C |
A |
7: 81,126,884 (GRCm39) |
A289S |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
| Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
| Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,616 (GRCm39) |
K323E |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
| Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,410,809 (GRCm39) |
S378P |
probably benign |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,505 (GRCm39) |
I30T |
probably benign |
Het |
| Slc22a21 |
A |
G |
11: 53,846,881 (GRCm39) |
S331P |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
| Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
|
R3743:Irf8
|
UTSW |
8 |
121,480,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGACTCTGAGCCTTTAGGGGAG -3'
(R):5'- TGGTGTCAAAGACCTGCACC -3'
Sequencing Primer
(F):5'- CCTTTAGGGGAGGCACTGG -3'
(R):5'- TTGCACACCACCGCGTTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation