Incidental Mutation 'IGL02129:Cebpe'
ID 280963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cebpe
Ensembl Gene ENSMUSG00000052435
Gene Name CCAAT/enhancer binding protein epsilon
Synonyms C/EBPepsilon, LOC239097, CRP1, C/EBPe
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # IGL02129
Quality Score
Status
Chromosome 14
Chromosomal Location 54947823-54949604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54949070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 116 (R116W)
Ref Sequence ENSEMBL: ENSMUSP00000068927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064290]
AlphaFold Q6PZD9
Predicted Effect probably damaging
Transcript: ENSMUST00000064290
AA Change: R116W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068927
Gene: ENSMUSG00000052435
AA Change: R116W

DomainStartEndE-ValueType
PDB:3T92|A 37 61 8e-8 PDB
low complexity region 165 190 N/A INTRINSIC
BRLZ 202 266 4e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired neutrophil and eosinophil development and myelodysplasia. Mutant animals are susceptible to secondary bacterial infections such as conjuntivitis, rhinitis, and pneumonia, and become moribund between 2-5 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a3 T A 7: 24,696,711 (GRCm39) H293L probably damaging Het
AU040320 A G 4: 126,717,485 (GRCm39) Y354C probably damaging Het
Bag4 T C 8: 26,258,113 (GRCm39) T405A probably damaging Het
Best1 T A 19: 9,970,285 (GRCm39) Q109L probably benign Het
Bod1l G A 5: 41,979,193 (GRCm39) T707I probably benign Het
Bora G A 14: 99,294,257 (GRCm39) probably null Het
Btnl9 A C 11: 49,060,100 (GRCm39) D464E probably damaging Het
Col6a6 T C 9: 105,613,539 (GRCm39) probably benign Het
Copb2 T C 9: 98,467,976 (GRCm39) probably benign Het
Ep300 A G 15: 81,470,837 (GRCm39) E3G unknown Het
Fam117b A G 1: 60,020,582 (GRCm39) H484R probably benign Het
Fgb T A 3: 82,950,725 (GRCm39) K343M probably benign Het
Fkbpl C T 17: 34,864,952 (GRCm39) T240M probably damaging Het
Gemin6 T C 17: 80,535,355 (GRCm39) L105P probably damaging Het
Heatr3 T C 8: 88,884,899 (GRCm39) probably benign Het
Itch C T 2: 155,059,908 (GRCm39) probably benign Het
Kank3 C T 17: 34,036,465 (GRCm39) P111L probably benign Het
Mthfsl T A 9: 88,597,589 (GRCm39) I111F probably damaging Het
Mtor A T 4: 148,634,302 (GRCm39) M2382L possibly damaging Het
Myh2 A G 11: 67,076,084 (GRCm39) D757G probably benign Het
Naa35 A G 13: 59,757,339 (GRCm39) D238G probably damaging Het
Nckap5 A T 1: 125,955,432 (GRCm39) Y373* probably null Het
Or5an10 T A 19: 12,275,822 (GRCm39) I225F probably damaging Het
Pigm G A 1: 172,205,434 (GRCm39) W390* probably null Het
Plxnb2 A G 15: 89,044,613 (GRCm39) V1211A probably benign Het
Sh3yl1 T A 12: 30,992,876 (GRCm39) probably benign Het
Spg11 T A 2: 121,926,167 (GRCm39) Q709H probably damaging Het
Spr-ps1 A G 6: 85,132,804 (GRCm39) noncoding transcript Het
Tc2n T C 12: 101,656,048 (GRCm39) N208D probably damaging Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Ttll1 G A 15: 83,368,450 (GRCm39) P403S probably benign Het
Usp20 T C 2: 30,894,462 (GRCm39) V126A probably benign Het
Zfp109 T C 7: 23,936,054 (GRCm39) T2A possibly damaging Het
Other mutations in Cebpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02618:Cebpe APN 14 54,948,234 (GRCm39) missense probably damaging 1.00
R0071:Cebpe UTSW 14 54,948,061 (GRCm39) missense probably damaging 1.00
R0071:Cebpe UTSW 14 54,948,061 (GRCm39) missense probably damaging 1.00
R1740:Cebpe UTSW 14 54,949,399 (GRCm39) missense probably damaging 1.00
R1742:Cebpe UTSW 14 54,949,057 (GRCm39) missense probably benign 0.19
R5497:Cebpe UTSW 14 54,948,052 (GRCm39) missense probably benign 0.39
R7094:Cebpe UTSW 14 54,948,060 (GRCm39) missense probably damaging 1.00
R7505:Cebpe UTSW 14 54,948,113 (GRCm39) missense probably damaging 1.00
R7592:Cebpe UTSW 14 54,949,298 (GRCm39) missense probably damaging 0.99
R8956:Cebpe UTSW 14 54,949,121 (GRCm39) missense probably damaging 1.00
R9717:Cebpe UTSW 14 54,949,165 (GRCm39) missense probably damaging 0.97
Z1177:Cebpe UTSW 14 54,948,037 (GRCm39) nonsense probably null
Posted On 2015-04-16