Incidental Mutation 'R2875:Irf8'
ID |
260512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irf8
|
Ensembl Gene |
ENSMUSG00000041515 |
Gene Name |
interferon regulatory factor 8 |
Synonyms |
ICSBP, Myls, IRF-8, Icsbp1 |
MMRRC Submission |
040463-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2875 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
121463097-121483433 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 121481202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 262
(P262Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047737]
[ENSMUST00000127664]
[ENSMUST00000160943]
[ENSMUST00000162001]
[ENSMUST00000162658]
|
AlphaFold |
P23611 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047737
AA Change: P353Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000040245 Gene: ENSMUSG00000041515 AA Change: P353Q
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: P262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125447 Gene: ENSMUSG00000041515 AA Change: P262Q
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: P353Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125029 Gene: ENSMUSG00000041515 AA Change: P353Q
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (1/1) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,080,177 (GRCm39) |
K16* |
probably null |
Het |
Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,969,904 (GRCm39) |
D585E |
probably damaging |
Het |
Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,414,625 (GRCm39) |
I9V |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,598,907 (GRCm39) |
N995S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 66,059,287 (GRCm39) |
G3C |
possibly damaging |
Het |
Dock2 |
A |
G |
11: 34,609,712 (GRCm39) |
S243P |
probably damaging |
Het |
Eif2ak3 |
T |
C |
6: 70,860,623 (GRCm39) |
S400P |
probably damaging |
Het |
Eno1b |
A |
G |
18: 48,180,851 (GRCm39) |
K343R |
possibly damaging |
Het |
Grk6 |
A |
G |
13: 55,600,117 (GRCm39) |
H271R |
probably damaging |
Het |
H2-Ab1 |
A |
C |
17: 34,482,286 (GRCm39) |
M1L |
probably benign |
Het |
Kcnc3 |
G |
T |
7: 44,240,961 (GRCm39) |
G218* |
probably null |
Het |
Krt9 |
C |
A |
11: 100,080,031 (GRCm39) |
G454* |
probably null |
Het |
Mgrn1 |
C |
T |
16: 4,725,280 (GRCm39) |
T47I |
possibly damaging |
Het |
Ndst1 |
A |
T |
18: 60,823,119 (GRCm39) |
F816I |
probably damaging |
Het |
Or11g26 |
T |
A |
14: 50,753,269 (GRCm39) |
W203R |
probably benign |
Het |
Or5h25 |
A |
T |
16: 58,930,165 (GRCm39) |
D269E |
probably benign |
Het |
Phf12 |
C |
A |
11: 77,900,573 (GRCm39) |
T223N |
probably damaging |
Het |
Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
Rad54l |
C |
T |
4: 115,959,050 (GRCm39) |
R382Q |
probably benign |
Het |
Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
Smarca4 |
A |
T |
9: 21,553,876 (GRCm39) |
K387N |
possibly damaging |
Het |
St3gal5 |
A |
G |
6: 72,124,114 (GRCm39) |
M214V |
possibly damaging |
Het |
Stk25 |
T |
C |
1: 93,556,973 (GRCm39) |
D15G |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,217 (GRCm39) |
D69G |
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,589,438 (GRCm39) |
N21272I |
probably damaging |
Het |
Uchl3 |
A |
G |
14: 101,905,996 (GRCm39) |
H153R |
probably benign |
Het |
Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,808,304 (GRCm39) |
S251P |
probably damaging |
Het |
Zeb1 |
GGA |
GGAAGA |
18: 5,772,859 (GRCm39) |
|
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGGTTGGCTTCTAGCTAAG -3'
(R):5'- AACGTGGGAAGCCATCACAG -3'
Sequencing Primer
(F):5'- GCTAAGCAGCCTTGTATCCTAGG -3'
(R):5'- TGGGAAGCCATCACAGAGGTG -3'
|
Posted On |
2015-01-23 |