Incidental Mutation 'R7592:Cebpe'
ID 587475
Institutional Source Beutler Lab
Gene Symbol Cebpe
Ensembl Gene ENSMUSG00000052435
Gene Name CCAAT/enhancer binding protein epsilon
Synonyms C/EBPepsilon, LOC239097, CRP1, C/EBPe
MMRRC Submission 045639-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R7592 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54947823-54949604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54949298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 40 (I40F)
Ref Sequence ENSEMBL: ENSMUSP00000068927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064290]
AlphaFold Q6PZD9
Predicted Effect probably damaging
Transcript: ENSMUST00000064290
AA Change: I40F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068927
Gene: ENSMUSG00000052435
AA Change: I40F

DomainStartEndE-ValueType
PDB:3T92|A 37 61 8e-8 PDB
low complexity region 165 190 N/A INTRINSIC
BRLZ 202 266 4e-17 SMART
Meta Mutation Damage Score 0.2409 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,138 (GRCm39) T204A unknown Het
Abca12 T C 1: 71,327,836 (GRCm39) T1415A probably benign Het
Adamtsl3 A G 7: 81,986,459 (GRCm39) T24A probably benign Het
Ankrd13b A C 11: 77,367,327 (GRCm39) V194G probably benign Het
Aurkc C T 7: 7,003,006 (GRCm39) T167I probably benign Het
Capn1 T C 19: 6,064,469 (GRCm39) Y10C probably benign Het
Ccnk T C 12: 108,152,724 (GRCm39) S14P possibly damaging Het
Cers3 G A 7: 66,439,377 (GRCm39) C296Y probably damaging Het
Cog8 A T 8: 107,776,861 (GRCm39) C505S possibly damaging Het
Col4a3 A G 1: 82,626,338 (GRCm39) I92V unknown Het
Col5a3 T A 9: 20,708,689 (GRCm39) H645L unknown Het
Crispld1 A T 1: 17,798,990 (GRCm39) E37V possibly damaging Het
Csmd2 A G 4: 128,357,591 (GRCm39) Y1684C Het
Cstdc5 A T 16: 36,187,862 (GRCm39) M1K probably null Het
Dcst1 C A 3: 89,260,599 (GRCm39) S555I probably benign Het
Drc1 A G 5: 30,499,060 (GRCm39) S70G possibly damaging Het
Elavl2 A T 4: 91,199,808 (GRCm39) probably null Het
Emc1 A G 4: 139,087,877 (GRCm39) H300R probably benign Het
Gcnt4 G A 13: 97,083,669 (GRCm39) V322I probably benign Het
Gsg1l2 A G 11: 67,665,584 (GRCm39) N51D probably benign Het
Gucy2e A T 11: 69,114,150 (GRCm39) probably null Het
Hip1r A G 5: 124,136,036 (GRCm39) E579G probably benign Het
Hoxa4 T C 6: 52,168,520 (GRCm39) H50R unknown Het
Htr7 T C 19: 36,034,292 (GRCm39) Y121C probably damaging Het
Ift43 G A 12: 86,207,964 (GRCm39) D111N probably damaging Het
Itih3 A G 14: 30,630,722 (GRCm39) V863A probably damaging Het
Macf1 T C 4: 123,304,686 (GRCm39) probably benign Het
Mgat3 A G 15: 80,095,193 (GRCm39) K7E probably damaging Het
Ndst4 T A 3: 125,364,436 (GRCm39) V371E probably damaging Het
Npr1 T G 3: 90,372,323 (GRCm39) D163A possibly damaging Het
Nudt12 T C 17: 59,313,589 (GRCm39) I330V probably benign Het
Or2a20 T G 6: 43,194,179 (GRCm39) C111G probably damaging Het
Or4k2 T A 14: 50,424,020 (GRCm39) Y219F probably damaging Het
Or51l4 C A 7: 103,404,279 (GRCm39) C171F probably damaging Het
Or7g32 C A 9: 19,389,128 (GRCm39) M139I possibly damaging Het
Poc1a A T 9: 106,226,967 (GRCm39) R402S probably benign Het
Prex2 G T 1: 11,193,437 (GRCm39) V470L probably damaging Het
Prom1 T C 5: 44,220,469 (GRCm39) E93G probably damaging Het
Psma1 A T 7: 113,868,961 (GRCm39) M180K probably benign Het
Pudp A T 18: 50,701,053 (GRCm39) F227I probably damaging Het
Rab15 T A 12: 76,851,223 (GRCm39) Q60L probably damaging Het
Scaf8 T C 17: 3,221,497 (GRCm39) probably null Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Sez6 T C 11: 77,868,876 (GRCm39) S976P probably damaging Het
Slc2a12 A G 10: 22,540,802 (GRCm39) Y219C probably damaging Het
Slc38a9 T A 13: 112,831,889 (GRCm39) I213K probably damaging Het
Stil T A 4: 114,881,005 (GRCm39) D516E probably benign Het
Supt20 A G 3: 54,614,543 (GRCm39) D184G probably damaging Het
Tars3 G A 7: 65,308,619 (GRCm39) S263N probably benign Het
Tmem181a C A 17: 6,339,295 (GRCm39) T68K probably benign Het
Trav21-dv12 G T 14: 54,113,997 (GRCm39) C39F probably damaging Het
Tshz1 T C 18: 84,032,173 (GRCm39) E745G probably damaging Het
Ugt1a8 T A 1: 88,015,904 (GRCm39) F106I probably benign Het
Vmn1r39 C A 6: 66,781,428 (GRCm39) V297L probably benign Het
Vmn2r101 G A 17: 19,811,443 (GRCm39) probably null Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null Het
Other mutations in Cebpe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02129:Cebpe APN 14 54,949,070 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCTATCTGGGCCAAATGTGTG -3'
(R):5'- TAGGGCAAATCTAGGACCGG -3'

Sequencing Primer
(F):5'- CCAAATGTGTGTGAGGGATAGGC -3'
(R):5'- AGGCTGAGCATCCCAACG -3'
Posted On 2019-10-24