Incidental Mutation 'R6238:Cebpz'
ID 505085
Institutional Source Beutler Lab
Gene Symbol Cebpz
Ensembl Gene ENSMUSG00000024081
Gene Name CCAAT/enhancer binding protein zeta
Synonyms Cebpa-rs1, CBF2, Cbf
MMRRC Submission 044401-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6238 (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 G at 79244339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 41 (S41P)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000024885
AA Change: S41P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: S41P

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
Meta Mutation Damage Score 0.0696 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,096 (GRCm39) T2P possibly damaging Het
2610042L04Rik A G 14: 4,348,962 (GRCm38) N41S probably damaging Het
4933402N03Rik T C 7: 130,747,863 (GRCm39) D43G probably benign Het
Adcy10 C A 1: 165,403,297 (GRCm39) Y1598* probably null Het
Adgrv1 G A 13: 81,614,402 (GRCm39) T3997M probably benign Het
Amfr A C 8: 94,726,992 (GRCm39) F74V probably damaging Het
Ankrd13a T C 5: 114,924,787 (GRCm39) Y91H probably benign Het
Baiap3 A G 17: 25,464,732 (GRCm39) S767P probably benign Het
Car12 C T 9: 66,661,008 (GRCm39) T124I probably damaging Het
Casp9 G T 4: 141,534,448 (GRCm39) G286V probably damaging Het
Cc2d2a T A 5: 43,828,577 (GRCm39) D18E probably benign Het
Cdc27 T C 11: 104,419,270 (GRCm39) N221D probably damaging Het
Cenpo T A 12: 4,281,968 (GRCm39) S10C possibly damaging Het
Chid1 A G 7: 141,076,049 (GRCm39) V368A probably benign Het
Clca3a1 C A 3: 144,714,716 (GRCm39) V634L probably benign Het
Cmtr1 A G 17: 29,901,122 (GRCm39) D683G probably damaging Het
Cpsf3 G T 12: 21,350,163 (GRCm39) R294L probably damaging Het
Ddrgk1 G A 2: 130,496,599 (GRCm39) T255M possibly damaging Het
Dennd6a T A 14: 26,337,813 (GRCm39) probably null Het
Dnah10 A G 5: 124,820,743 (GRCm39) R526G probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Efcab10 T C 12: 33,448,433 (GRCm39) Y89H probably damaging Het
Etl4 T A 2: 20,806,379 (GRCm39) D1200E probably damaging Het
Fbn1 T A 2: 125,166,865 (GRCm39) D2017V probably damaging Het
Ftmt G A 18: 52,465,307 (GRCm39) V208M probably damaging Het
Fzd10 T C 5: 128,679,995 (GRCm39) Y572H probably damaging Het
Gcc1 T C 6: 28,420,742 (GRCm39) K39E probably damaging Het
Hydin A G 8: 111,118,743 (GRCm39) probably null Het
Lif A G 11: 4,218,940 (GRCm39) E73G possibly damaging Het
Lrtm1 C A 14: 28,749,628 (GRCm39) Q357K probably benign Het
Mef2d T A 3: 88,066,852 (GRCm39) L205Q probably damaging Het
Naalad2 T A 9: 18,296,361 (GRCm39) E96D probably damaging Het
Nbas T C 12: 13,532,596 (GRCm39) I1768T probably benign Het
Nodal T C 10: 61,259,258 (GRCm39) S232P probably damaging Het
Or52ab7 A T 7: 102,978,115 (GRCm39) I141F possibly damaging Het
Or8b12c A G 9: 37,715,317 (GRCm39) T37A probably benign Het
Parl G A 16: 20,120,963 (GRCm39) R39C possibly damaging Het
Pcdha9 G A 18: 37,132,028 (GRCm39) V366I probably benign Het
Pdzd8 A G 19: 59,288,994 (GRCm39) V802A probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Plxna2 T A 1: 194,472,504 (GRCm39) S1083T probably benign Het
Polr2a G T 11: 69,638,047 (GRCm39) L141I possibly damaging Het
Ptpre C A 7: 135,272,909 (GRCm39) R468S probably damaging Het
Raet1e T A 10: 22,056,770 (GRCm39) N115K probably benign Het
Rfx8 C A 1: 39,709,554 (GRCm39) S491I probably damaging Het
Rpe T A 1: 66,740,807 (GRCm39) L48* probably null Het
Skint5 A T 4: 113,800,064 (GRCm39) probably null Het
Spata24 C A 18: 35,793,389 (GRCm39) S111I possibly damaging Het
Suz12 G C 11: 79,893,006 (GRCm39) probably benign Het
Taf4 T A 2: 179,573,832 (GRCm39) I679F probably damaging Het
Tlr1 G T 5: 65,084,472 (GRCm39) P35Q possibly damaging Het
Tonsl T C 15: 76,520,418 (GRCm39) probably null Het
Tsen54 G A 11: 115,711,513 (GRCm39) R310H probably benign Het
Ttc7b A G 12: 100,461,681 (GRCm39) S99P probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uhmk1 T A 1: 170,027,563 (GRCm39) N378I probably damaging Het
Vmn2r107 A G 17: 20,565,849 (GRCm39) T55A probably benign Het
Vmn2r74 C T 7: 85,601,280 (GRCm39) C786Y probably damaging Het
Wdr20rt C T 12: 65,272,964 (GRCm39) probably benign Het
Zfand2a T A 5: 139,467,746 (GRCm39) H42L probably damaging Het
Zfp990 T A 4: 145,264,483 (GRCm39) C494S probably damaging Het
Zkscan4 A T 13: 21,668,757 (GRCm39) R403W 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
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
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'- CGCCTACATTTTAACGAGGC -3'
(R):5'- GGAAGTGCGTCACCGTAAAG -3'

Sequencing Primer
(F):5'- TTTTAACGAGGCATAAACCCAGG -3'
(R):5'- CGTAAAGCGGAAGTAAGCTCC -3'
Posted On 2018-02-28