Incidental Mutation 'R6257:Cebpz'
ID 506436
Institutional Source Beutler Lab
Gene Symbol Cebpz
Ensembl Gene ENSMUSG00000024081
Gene Name CCAAT/enhancer binding protein zeta
Synonyms Cebpa-rs1, CBF2, Cbf
MMRRC Submission 044374-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6257 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 79226435-79244495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79243261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 131 (E131G)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024885
AA Change: E131G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: E131G

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
Predicted Effect probably benign
Transcript: ENSMUST00000024887
SMART Domains Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082

DomainStartEndE-ValueType
Pfam:Methyltransf_28 95 349 5.5e-75 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,272,074 (GRCm39) N313K probably benign Het
Adamts2 T C 11: 50,666,153 (GRCm39) V383A probably damaging Het
Adamts6 A T 13: 104,598,790 (GRCm39) Q877L probably benign Het
Adgre4 C T 17: 56,109,133 (GRCm39) T380I possibly damaging Het
Aspm A G 1: 139,409,791 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,102 (GRCm39) probably null Het
Bcl6b C T 11: 70,116,878 (GRCm39) R467H probably benign Het
Cacna2d4 G A 6: 119,258,580 (GRCm39) probably null Het
Casp8ap2 A G 4: 32,641,364 (GRCm39) D806G possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Ccser1 A G 6: 61,350,946 (GRCm39) D501G probably damaging Het
Ccser1 A G 6: 62,356,769 (GRCm39) T736A probably benign Het
Cd164l2 T A 4: 132,948,345 (GRCm39) C19S unknown Het
Cdk15 G A 1: 59,296,264 (GRCm39) probably null Het
Ces1d T C 8: 93,893,025 (GRCm39) D519G probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Chd1 T G 17: 15,950,465 (GRCm39) probably null Het
Chil4 T A 3: 106,111,412 (GRCm39) D234V possibly damaging Het
Cldn16 T A 16: 26,300,080 (GRCm39) S173T probably damaging Het
Cpd A T 11: 76,703,496 (GRCm39) F456I probably benign Het
Cst8 C A 2: 148,647,365 (GRCm39) A125E probably damaging Het
Dars2 G T 1: 160,869,398 (GRCm39) P617Q probably damaging Het
Defb26 A G 2: 152,349,860 (GRCm39) V140A unknown Het
Dntt T G 19: 41,041,501 (GRCm39) V395G probably damaging Het
Dock10 G A 1: 80,481,413 (GRCm39) probably benign Het
Dscam T C 16: 96,474,914 (GRCm39) N1216S possibly damaging Het
En1 A T 1: 120,531,636 (GRCm39) D292V unknown Het
Erbb4 A T 1: 68,435,432 (GRCm39) L155Q probably damaging Het
Erbin T C 13: 103,998,796 (GRCm39) T197A probably benign Het
Fat2 A G 11: 55,153,407 (GRCm39) F3602L probably benign Het
Fcsk A T 8: 111,617,177 (GRCm39) C365S probably benign Het
Gm3443 A T 19: 21,533,075 (GRCm39) D13V unknown Het
Gm6401 T C 14: 41,789,828 (GRCm39) Q10R probably benign Het
Gmcl1 G A 6: 86,677,623 (GRCm39) T410I possibly damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H2-T24 T A 17: 36,325,574 (GRCm39) T305S probably benign Het
Ksr2 A T 5: 117,552,909 (GRCm39) M6L probably benign Het
Lama2 A G 10: 26,862,895 (GRCm39) L2956S possibly damaging Het
Lhfpl3 A G 5: 22,951,557 (GRCm39) T123A probably benign Het
Lrp1b T A 2: 40,486,981 (GRCm39) probably null Het
Ltn1 G A 16: 87,208,662 (GRCm39) A812V possibly damaging Het
Maml2 C T 9: 13,531,722 (GRCm39) S312L probably damaging Het
Myo7b T A 18: 32,146,468 (GRCm39) N106Y probably damaging Het
Nacc2 A T 2: 25,950,420 (GRCm39) C439S probably damaging Het
Ncoa7 A G 10: 30,570,173 (GRCm39) I224T probably damaging Het
Nf1 A T 11: 79,440,317 (GRCm39) L2303F probably damaging Het
Noc3l A T 19: 38,784,349 (GRCm39) probably null Het
Nup155 C T 15: 8,180,282 (GRCm39) R1120* probably null Het
Oas3 C A 5: 120,899,200 (GRCm39) probably benign Het
Ocln T C 13: 100,676,017 (GRCm39) I159V probably benign Het
Or1p1c T C 11: 74,160,833 (GRCm39) V206A probably damaging Het
Or2t45 T A 11: 58,669,829 (GRCm39) V292E probably damaging Het
Os9 A C 10: 126,955,006 (GRCm39) C181G probably damaging Het
Phldb1 C T 9: 44,607,437 (GRCm39) R1256Q probably damaging Het
Pkd1l1 G A 11: 8,892,195 (GRCm39) T208I probably benign Het
Plppr4 T C 3: 117,116,228 (GRCm39) Q485R possibly damaging Het
Prkcb T A 7: 122,167,386 (GRCm39) D365E probably benign Het
Ptprz1 T A 6: 22,959,639 (GRCm39) N45K probably damaging Het
Rbl2 T C 8: 91,842,306 (GRCm39) L987P probably damaging Het
Runx1 T A 16: 92,492,799 (GRCm39) probably benign Het
Septin4 C A 11: 87,481,175 (GRCm39) Q372K probably benign Het
Slc24a4 A G 12: 102,220,769 (GRCm39) E400G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Sri T A 5: 8,109,596 (GRCm39) probably null Het
St3gal3 C T 4: 117,964,875 (GRCm39) probably benign Het
Tfpt A T 7: 3,632,566 (GRCm39) L3* probably null Het
Tgfb3 T C 12: 86,124,615 (GRCm39) D31G possibly damaging Het
Thsd7a G T 6: 12,408,987 (GRCm39) C678* probably null Het
Tmbim1 A G 1: 74,332,225 (GRCm39) Y101H probably damaging Het
Tmem17 A G 11: 22,462,297 (GRCm39) probably benign Het
Tmprss15 A T 16: 78,769,113 (GRCm39) V769E probably damaging Het
Trak1 C T 9: 121,275,821 (GRCm39) R175C probably damaging Het
Trak1 G T 9: 121,196,290 (GRCm39) V41F possibly damaging Het
Trim30c T C 7: 104,039,375 (GRCm39) Y140C probably damaging Het
Tubgcp3 A T 8: 12,699,835 (GRCm39) probably null Het
Ubr7 T A 12: 102,732,099 (GRCm39) C158* probably null Het
Vmn2r79 A T 7: 86,651,778 (GRCm39) L392F probably benign Het
Zfp536 T A 7: 37,179,830 (GRCm39) D925V probably 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
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
R8694:Cebpz UTSW 17 79,234,334 (GRCm39) missense probably damaging 1.00
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'- GGGCTTTGTACTTGGACACGAC -3'
(R):5'- GGAACCATTGACGACCTTCAAC -3'

Sequencing Primer
(F):5'- GTACTTGGACACGACATCTGG -3'
(R):5'- CCTTCAACAAGGTGAACTGGAGTC -3'
Posted On 2018-03-15