Incidental Mutation 'IGL02954:Atf3'
ID 365052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf3
Ensembl Gene ENSMUSG00000026628
Gene Name activating transcription factor 3
Synonyms LRG-21
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02954
Quality Score
Status
Chromosome 1
Chromosomal Location 190902493-190915530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190903852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 125 (N125D)
Ref Sequence ENSEMBL: ENSMUSP00000141492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027941] [ENSMUST00000195117]
AlphaFold Q60765
Predicted Effect probably damaging
Transcript: ENSMUST00000027941
AA Change: N125D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027941
Gene: ENSMUSG00000026628
AA Change: N125D

DomainStartEndE-ValueType
BRLZ 84 148 6.45e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131854
Predicted Effect probably damaging
Transcript: ENSMUST00000195117
AA Change: N125D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141492
Gene: ENSMUSG00000026628
AA Change: N125D

DomainStartEndE-ValueType
BRLZ 84 148 6.45e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous null mice display enhanced allergen-induced airway hyperresponsiveness, pulmonary eosinophilia, and chemokine and Th2 cytokine responses in lung tissue and lung-derived CD4+ lymphocytes. Primary pancreatic islets are partially protected from cytokine- or nitric oxide-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,782,341 (GRCm39) R908L probably benign Het
Abcc9 T C 6: 142,592,007 (GRCm39) N774S probably damaging Het
Alpk2 C T 18: 65,439,207 (GRCm39) V729I probably benign Het
Bcat1 C T 6: 144,964,945 (GRCm39) G215D probably damaging Het
Bptf G T 11: 106,945,575 (GRCm39) Q2555K possibly damaging Het
Cthrc1 A G 15: 38,940,389 (GRCm39) probably benign Het
Cyp2c38 A G 19: 39,379,520 (GRCm39) M443T probably damaging Het
D6Wsu163e C T 6: 126,951,441 (GRCm39) probably benign Het
Dgkg T A 16: 22,441,003 (GRCm39) E3D probably benign Het
Dnah8 G T 17: 30,923,809 (GRCm39) R1259L probably benign Het
Dnah9 A G 11: 66,009,793 (GRCm39) L698P probably damaging Het
Ebag9 A C 15: 44,493,601 (GRCm39) H141P probably benign Het
Emilin2 T C 17: 71,563,526 (GRCm39) R840G probably benign Het
Faap100 A T 11: 120,262,957 (GRCm39) H800Q probably damaging Het
Fh1 A T 1: 175,437,301 (GRCm39) I266N probably damaging Het
Fkbp15 A G 4: 62,239,302 (GRCm39) probably benign Het
Gm17334 A G 11: 53,663,654 (GRCm39) probably benign Het
Gm5773 G T 3: 93,680,358 (GRCm39) W10L probably benign Het
Gng13 T C 17: 25,937,726 (GRCm39) Y18H probably damaging Het
Hivep3 T C 4: 119,990,838 (GRCm39) S2113P probably damaging Het
Ift81 A T 5: 122,748,248 (GRCm39) probably benign Het
Irak3 A C 10: 120,012,147 (GRCm39) L206V probably damaging Het
Kcng4 C T 8: 120,359,792 (GRCm39) A195T probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Nars2 T G 7: 96,689,100 (GRCm39) probably null Het
Nol8 T C 13: 49,814,648 (GRCm39) V234A probably benign Het
Or12j4 A T 7: 140,046,353 (GRCm39) K80* probably null Het
Or1o4 T A 17: 37,591,195 (GRCm39) N39Y probably damaging Het
Patz1 A G 11: 3,241,761 (GRCm39) Y383C probably damaging Het
Pdcd5 T C 7: 35,343,089 (GRCm39) Y152C probably damaging Het
Phkg1 A G 5: 129,894,910 (GRCm39) W214R probably damaging Het
Plxna1 A G 6: 89,301,649 (GRCm39) L1459P probably damaging Het
Pspc1 G A 14: 57,009,217 (GRCm39) P206S probably benign Het
St7 A T 6: 17,848,030 (GRCm39) N198I probably damaging Het
Supt3 A G 17: 45,349,015 (GRCm39) D249G probably damaging Het
Taf1c T C 8: 120,327,225 (GRCm39) Y418C probably damaging Het
Tdrd6 A G 17: 43,938,153 (GRCm39) V965A possibly damaging Het
Ugt2b35 A G 5: 87,159,180 (GRCm39) N458S probably benign Het
Vmn1r8 A G 6: 57,013,315 (GRCm39) Y122C probably benign Het
Other mutations in Atf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Atf3 APN 1 190,903,693 (GRCm39) missense probably benign 0.03
IGL02971:Atf3 APN 1 190,909,640 (GRCm39) missense probably benign
R3943:Atf3 UTSW 1 190,903,713 (GRCm39) missense possibly damaging 0.81
R5001:Atf3 UTSW 1 190,909,472 (GRCm39) missense probably benign 0.01
R8815:Atf3 UTSW 1 190,909,564 (GRCm39) missense probably benign 0.10
R9377:Atf3 UTSW 1 190,909,510 (GRCm39) missense probably benign
Posted On 2015-12-18