Incidental Mutation 'R8694:Cebpz'
ID 668587
Institutional Source Beutler Lab
Gene Symbol Cebpz
Ensembl Gene ENSMUSG00000024081
Gene Name CCAAT/enhancer binding protein zeta
Synonyms Cebpa-rs1, CBF2, Cbf
MMRRC Submission 068548-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8694 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 79226435-79244495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79234334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 725 (H725Q)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024885
AA Change: H725Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: H725Q

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
coiled coil region 113 143 N/A INTRINSIC
Pfam:CBF 523 732 5.7e-58 PFAM
low complexity region 834 851 N/A INTRINSIC
low complexity region 881 904 N/A INTRINSIC
low complexity region 957 969 N/A INTRINSIC
low complexity region 1028 1042 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CEBP family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. Methylation of the promoter of this gene or mutations within the gene may be correlated with occurance of acute myeloid leukemia (AML). [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,642,950 (GRCm39) L277P probably damaging Het
Adgrb3 C A 1: 25,865,472 (GRCm39) D124Y probably damaging Het
Afdn T C 17: 14,108,641 (GRCm39) V1403A probably benign Het
Afg3l1 T C 8: 124,227,973 (GRCm39) V586A probably damaging Het
Ajm1 A G 2: 25,469,831 (GRCm39) S27P possibly damaging Het
Aloxe3 A G 11: 69,033,677 (GRCm39) D597G probably damaging Het
Asb15 T C 6: 24,570,666 (GRCm39) V548A probably benign Het
Atp6v1a C T 16: 43,921,991 (GRCm39) R388Q probably damaging Het
Btbd8 A G 5: 107,658,635 (GRCm39) D1735G probably benign Het
C130074G19Rik G A 1: 184,615,184 (GRCm39) T2M probably damaging Het
Ccdc187 T C 2: 26,165,505 (GRCm39) T884A probably benign Het
Cdk5rap1 G A 2: 154,195,148 (GRCm39) R356* probably null Het
Celsr2 T C 3: 108,314,176 (GRCm39) D1283G probably damaging Het
Cldn11 G T 3: 31,217,239 (GRCm39) V136F probably damaging Het
Cpxm2 T C 7: 131,681,783 (GRCm39) N249D probably benign Het
Ctsz T C 2: 174,280,072 (GRCm39) N67D probably benign Het
Drd3 A C 16: 43,643,075 (GRCm39) H405P probably damaging Het
F2rl2 T C 13: 95,837,339 (GRCm39) V128A probably benign Het
Fh1 C T 1: 175,448,126 (GRCm39) P43S probably benign Het
Fndc7 C T 3: 108,779,622 (GRCm39) W307* probably null Het
Gmip G T 8: 70,270,485 (GRCm39) V732L probably benign Het
Heatr4 A G 12: 84,027,038 (GRCm39) F73S probably damaging Het
Iqcf4 T C 9: 106,448,111 (GRCm39) probably benign Het
Itln1 T A 1: 171,359,279 (GRCm39) Q67L probably damaging Het
Jak1 A G 4: 101,013,704 (GRCm39) V1008A probably damaging Het
Kcnh1 A T 1: 191,921,031 (GRCm39) probably benign Het
Kcnu1 T G 8: 26,342,101 (GRCm39) probably benign Het
Kif1b A G 4: 149,305,024 (GRCm39) S967P probably damaging Het
Klra17 A G 6: 129,851,780 (GRCm39) S31P probably benign Het
Kmt2d C T 15: 98,742,615 (GRCm39) E4182K unknown Het
Lama5 T C 2: 179,822,677 (GRCm39) D2825G probably damaging Het
Lmtk2 T C 5: 144,108,566 (GRCm39) V336A probably damaging Het
Mad1l1 A G 5: 140,074,438 (GRCm39) I584T probably benign Het
Magea1 T A X: 153,871,787 (GRCm39) N313I possibly damaging Het
Mapt T C 11: 104,189,440 (GRCm39) S153P probably benign Het
Myo1e T C 9: 70,291,172 (GRCm39) Y988H probably benign Het
Ndufc2 A T 7: 97,049,403 (GRCm39) N3I probably benign Het
Nos2 T A 11: 78,836,515 (GRCm39) V531D possibly damaging Het
Npbwr1 T A 1: 5,986,617 (GRCm39) Y299F probably damaging Het
Or4a39 A G 2: 89,237,378 (GRCm39) L15P probably damaging Het
Or4a70 A G 2: 89,324,171 (GRCm39) Y162H possibly damaging Het
Or52n20 G T 7: 104,320,296 (GRCm39) C129F probably damaging Het
Or8h10 G A 2: 86,808,591 (GRCm39) P183L probably damaging Het
Pp2d1 T C 17: 53,815,191 (GRCm39) Y511C probably benign Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Setbp1 T C 18: 78,901,516 (GRCm39) K717R probably damaging Het
Slc25a11 T C 11: 70,535,630 (GRCm39) M303V probably benign Het
Spesp1 A T 9: 62,180,242 (GRCm39) M222K probably benign Het
Tmem132d A G 5: 127,869,495 (GRCm39) M613T probably benign Het
Ugt2a2 A G 5: 87,612,029 (GRCm39) F294L probably damaging Het
Usp34 A G 11: 23,434,161 (GRCm39) T3246A Het
Zfp750 T A 11: 121,404,456 (GRCm39) I140F possibly damaging Het
Zscan4e A T 7: 11,041,574 (GRCm39) H127Q possibly damaging Het
Other mutations in Cebpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Cebpz APN 17 79,242,259 (GRCm39) missense probably damaging 1.00
IGL01558:Cebpz APN 17 79,242,734 (GRCm39) missense probably damaging 1.00
IGL01724:Cebpz APN 17 79,243,342 (GRCm39) missense probably benign 0.01
IGL01938:Cebpz APN 17 79,242,390 (GRCm39) nonsense probably null
IGL02165:Cebpz APN 17 79,229,598 (GRCm39) missense probably damaging 1.00
IGL02397:Cebpz APN 17 79,230,690 (GRCm39) missense possibly damaging 0.63
IGL02455:Cebpz APN 17 79,242,465 (GRCm39) missense probably benign 0.16
IGL02690:Cebpz APN 17 79,229,986 (GRCm39) missense probably damaging 1.00
IGL02698:Cebpz APN 17 79,243,003 (GRCm39) missense probably benign 0.03
IGL02755:Cebpz APN 17 79,238,759 (GRCm39) missense probably damaging 1.00
IGL02827:Cebpz APN 17 79,236,760 (GRCm39) missense probably damaging 1.00
IGL03149:Cebpz APN 17 79,229,982 (GRCm39) missense probably benign 0.01
cedar_hill UTSW 17 79,244,339 (GRCm39) missense possibly damaging 0.87
R0125:Cebpz UTSW 17 79,227,317 (GRCm39) missense possibly damaging 0.95
R0138:Cebpz UTSW 17 79,238,820 (GRCm39) missense probably benign
R0310:Cebpz UTSW 17 79,233,553 (GRCm39) missense probably damaging 1.00
R0436:Cebpz UTSW 17 79,243,079 (GRCm39) missense probably benign 0.00
R0589:Cebpz UTSW 17 79,244,308 (GRCm39) missense probably damaging 1.00
R0828:Cebpz UTSW 17 79,233,411 (GRCm39) missense probably benign 0.04
R1355:Cebpz UTSW 17 79,242,753 (GRCm39) missense probably benign 0.01
R1367:Cebpz UTSW 17 79,230,742 (GRCm39) missense probably benign
R1583:Cebpz UTSW 17 79,242,181 (GRCm39) missense probably damaging 1.00
R1639:Cebpz UTSW 17 79,242,035 (GRCm39) missense possibly damaging 0.49
R1818:Cebpz UTSW 17 79,242,805 (GRCm39) missense probably damaging 1.00
R1885:Cebpz UTSW 17 79,239,545 (GRCm39) missense probably benign 0.00
R1908:Cebpz UTSW 17 79,242,336 (GRCm39) nonsense probably null
R1909:Cebpz UTSW 17 79,242,336 (GRCm39) nonsense probably null
R2094:Cebpz UTSW 17 79,242,983 (GRCm39) missense probably benign 0.03
R2314:Cebpz UTSW 17 79,227,976 (GRCm39) critical splice donor site probably null
R2763:Cebpz UTSW 17 79,243,358 (GRCm39) missense probably benign
R2874:Cebpz UTSW 17 79,239,532 (GRCm39) splice site probably benign
R3807:Cebpz UTSW 17 79,242,847 (GRCm39) missense probably damaging 1.00
R4012:Cebpz UTSW 17 79,231,896 (GRCm39) missense probably damaging 0.98
R5344:Cebpz UTSW 17 79,233,542 (GRCm39) missense possibly damaging 0.82
R5394:Cebpz UTSW 17 79,229,634 (GRCm39) missense probably benign 0.34
R5711:Cebpz UTSW 17 79,242,040 (GRCm39) missense probably damaging 1.00
R5902:Cebpz UTSW 17 79,233,366 (GRCm39) missense probably benign 0.20
R6238:Cebpz UTSW 17 79,244,339 (GRCm39) missense possibly damaging 0.87
R6257:Cebpz UTSW 17 79,243,261 (GRCm39) missense probably benign 0.17
R6825:Cebpz UTSW 17 79,227,392 (GRCm39) missense probably damaging 1.00
R7735:Cebpz UTSW 17 79,233,342 (GRCm39) critical splice donor site probably null
R7994:Cebpz UTSW 17 79,242,028 (GRCm39) missense probably damaging 0.99
R8045:Cebpz UTSW 17 79,239,585 (GRCm39) missense probably damaging 0.96
R8210:Cebpz UTSW 17 79,230,685 (GRCm39) missense probably benign 0.20
R8712:Cebpz UTSW 17 79,229,081 (GRCm39) missense possibly damaging 0.81
R8774:Cebpz UTSW 17 79,229,073 (GRCm39) missense probably benign 0.09
R8774-TAIL:Cebpz UTSW 17 79,229,073 (GRCm39) missense probably benign 0.09
R9058:Cebpz UTSW 17 79,243,227 (GRCm39) missense probably benign 0.00
R9514:Cebpz UTSW 17 79,239,684 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CAAAACTTAGCCAGGTGTCAAGG -3'
(R):5'- GTTGCTGGGAATTGAACTCAG -3'

Sequencing Primer
(F):5'- TCTCTGTGAGTTCAAGACTAACCCAG -3'
(R):5'- TAACCACTGAGCCATCTC -3'
Posted On 2021-04-30