Incidental Mutation 'IGL02944:Irf8'
ID364656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irf8
Ensembl Gene ENSMUSG00000041515
Gene Nameinterferon regulatory factor 8
SynonymsIcsbp1, ICSBP, Myls, IRF-8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02944
Quality Score
Status
Chromosome8
Chromosomal Location120736358-120756694 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120755125 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 318 (T318A)
Ref Sequence ENSEMBL: ENSMUSP00000125447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047737] [ENSMUST00000127664] [ENSMUST00000160943] [ENSMUST00000162001] [ENSMUST00000162658]
Predicted Effect probably benign
Transcript: ENSMUST00000047737
AA Change: T409A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040245
Gene: ENSMUSG00000041515
AA Change: T409A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000160943
AA Change: T318A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125447
Gene: ENSMUSG00000041515
AA Change: T318A

DomainStartEndE-ValueType
IRF 3 85 2.54e-16 SMART
IRF-3 111 289 2.63e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162001
AA Change: T409A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125029
Gene: ENSMUSG00000041515
AA Change: T409A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,608,657 Q343R probably benign Het
Antxr1 T A 6: 87,188,159 N432I possibly damaging Het
Arhgap15 T C 2: 44,142,350 probably null Het
Atp6v1h T A 1: 5,093,355 probably benign Het
Cav2 T C 6: 17,281,457 Y33H probably damaging Het
Ccdc175 T A 12: 72,117,893 D585V probably benign Het
Coro7 T C 16: 4,635,412 D271G probably benign Het
Cylc1 T A X: 111,123,604 D551E possibly damaging Het
Dnah1 A T 14: 31,300,871 I1103N possibly damaging Het
Gm44 A G X: 90,892,262 K41E probably benign Het
Gmds T A 13: 32,338,452 Y11F probably benign Het
Igkv13-54-1 C T 6: 69,617,390 noncoding transcript Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Mbd1 G A 18: 74,277,410 G428E probably damaging Het
Myom2 A T 8: 15,104,065 probably null Het
Nav2 C T 7: 49,420,256 R287W probably damaging Het
Nfs1 C T 2: 156,127,768 D320N probably damaging Het
Nlrp9a A T 7: 26,558,651 T565S probably benign Het
Nod1 A T 6: 54,924,947 I951N possibly damaging Het
Olfr353 T G 2: 36,890,788 E20A possibly damaging Het
Olfr675 A G 7: 105,024,923 L19P probably damaging Het
Olfr694 A G 7: 106,689,269 L154P probably damaging Het
Olfr924 A T 9: 38,848,752 I213F possibly damaging Het
Pkhd1l1 T C 15: 44,501,531 Y689H probably damaging Het
Ppp2r5c A G 12: 110,567,800 I366V probably benign Het
Ppp3cb T C 14: 20,528,235 Y149C probably damaging Het
Prdm1 T C 10: 44,441,811 S354G probably benign Het
Ralgapa1 T A 12: 55,757,951 Q520L probably benign Het
Slc25a54 A T 3: 109,080,615 Y24F probably benign Het
Slfn3 T A 11: 83,213,011 V236E probably damaging Het
Syt6 A G 3: 103,575,549 probably benign Het
Trim30a G T 7: 104,435,777 N75K probably benign Het
Vmn1r175 T C 7: 23,809,166 E12G probably damaging Het
Xylt1 A T 7: 117,634,757 T504S probably benign Het
Other mutations in Irf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Irf8 APN 8 120753380 missense probably damaging 1.00
IGL03024:Irf8 APN 8 120753358 missense probably damaging 0.98
gemini UTSW 8 120743883 nonsense probably null
gemini2 UTSW 8 120753707 missense probably damaging 0.97
ANU74:Irf8 UTSW 8 120739869 missense possibly damaging 0.75
R0211:Irf8 UTSW 8 120739975 missense probably damaging 1.00
R0211:Irf8 UTSW 8 120739975 missense probably damaging 1.00
R0840:Irf8 UTSW 8 120753481 missense probably benign 0.06
R1622:Irf8 UTSW 8 120739822 missense possibly damaging 0.86
R1715:Irf8 UTSW 8 120754388 missense probably damaging 0.98
R2274:Irf8 UTSW 8 120753527 missense probably damaging 0.99
R2875:Irf8 UTSW 8 120754463 missense probably damaging 1.00
R3743:Irf8 UTSW 8 120753571 missense probably damaging 1.00
R4209:Irf8 UTSW 8 120753469 missense probably damaging 0.99
R4729:Irf8 UTSW 8 120753439 missense probably damaging 0.99
R6343:Irf8 UTSW 8 120753707 missense probably damaging 0.97
R6950:Irf8 UTSW 8 120755125 missense probably benign 0.00
Posted On2015-12-18