Incidental Mutation 'IGL02755:Cebpz'
ID306397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cebpz
Ensembl Gene ENSMUSG00000024081
Gene NameCCAAT/enhancer binding protein zeta
SynonymsCebpa-rs1, Cbf, CBF2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.981) question?
Stock #IGL02755
Quality Score
Status
Chromosome17
Chromosomal Location78919006-78937070 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78931330 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 683 (V683E)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885]
Predicted Effect probably damaging
Transcript: ENSMUST00000024885
AA Change: V683E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: V683E

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
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik T A 11: 11,589,358 N189I unknown Het
Adamts19 T A 18: 58,969,933 I682K probably benign Het
Adra1a G A 14: 66,727,661 V367I probably benign Het
Alpk3 A G 7: 81,093,759 E1108G possibly damaging Het
Ccdc186 A T 19: 56,813,396 N96K probably benign Het
Ccnb1 A G 13: 100,781,660 Y160H possibly damaging Het
Cep104 A G 4: 153,996,959 H786R possibly damaging Het
Chd9 T C 8: 91,033,582 I1985T probably benign Het
Cntn2 T A 1: 132,529,302 T36S probably benign Het
Cntnap5c T C 17: 58,364,194 S1126P probably benign Het
Cpt2 A T 4: 107,907,775 V264E probably damaging Het
Degs2 T C 12: 108,692,583 T46A probably benign Het
Dip2c T C 13: 9,550,320 probably null Het
Dnaaf1 A G 8: 119,590,671 D313G probably damaging Het
Ephb3 T G 16: 21,221,698 D561E probably damaging Het
Eps15 A G 4: 109,329,698 T321A probably benign Het
Ercc6 A G 14: 32,575,748 probably benign Het
Gcn1l1 T A 5: 115,604,006 probably null Het
Gm28177 G A 1: 52,096,872 probably benign Het
Gucy2g C A 19: 55,210,354 V786F probably benign Het
H2-M3 T C 17: 37,271,022 V123A possibly damaging Het
Hmgxb3 T C 18: 61,172,188 K33E probably damaging Het
Ift22 T C 5: 136,911,786 W102R probably damaging Het
Lgi4 T C 7: 31,063,105 F44L probably damaging Het
Lingo3 T C 10: 80,836,009 E29G possibly damaging Het
Nf2 A G 11: 4,818,542 L109P probably damaging Het
Ntrk3 T C 7: 78,460,439 H349R probably benign Het
Olfr767 T A 10: 129,079,196 M256L probably benign Het
Otub1 T A 19: 7,206,259 M1L probably benign Het
Pkp3 A G 7: 141,088,405 probably null Het
Popdc3 C A 10: 45,315,218 H142N probably damaging Het
Pot1a A G 6: 25,771,613 F203S possibly damaging Het
Prdx5 A G 19: 6,909,595 V8A probably benign Het
Rabgap1 T C 2: 37,537,314 Y636H probably damaging Het
Rad51d A T 11: 82,881,632 I236N probably benign Het
Reep3 G T 10: 67,021,877 T145K possibly damaging Het
Samd3 G T 10: 26,244,577 L156F probably damaging Het
Sh3bp5l A G 11: 58,338,003 T101A probably benign Het
Slc3a1 T C 17: 85,037,177 V257A probably damaging Het
Sptbn1 A G 11: 30,142,247 V506A probably damaging Het
Stab1 A T 14: 31,139,638 S2471T probably benign Het
Vmn2r85 T C 10: 130,425,512 T319A probably damaging Het
Vmn2r94 C T 17: 18,244,499 V510I probably benign Het
Wscd2 T A 5: 113,574,031 M337K possibly damaging Het
Zfp866 A G 8: 69,766,640 probably null Het
Other mutations in Cebpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Cebpz APN 17 78934830 missense probably damaging 1.00
IGL01558:Cebpz APN 17 78935305 missense probably damaging 1.00
IGL01724:Cebpz APN 17 78935913 missense probably benign 0.01
IGL01938:Cebpz APN 17 78934961 nonsense probably null
IGL02165:Cebpz APN 17 78922169 missense probably damaging 1.00
IGL02397:Cebpz APN 17 78923261 missense possibly damaging 0.63
IGL02455:Cebpz APN 17 78935036 missense probably benign 0.16
IGL02690:Cebpz APN 17 78922557 missense probably damaging 1.00
IGL02698:Cebpz APN 17 78935574 missense probably benign 0.03
IGL02827:Cebpz APN 17 78929331 missense probably damaging 1.00
IGL03149:Cebpz APN 17 78922553 missense probably benign 0.01
cedar_hill UTSW 17 78936910 missense possibly damaging 0.87
R0125:Cebpz UTSW 17 78919888 missense possibly damaging 0.95
R0138:Cebpz UTSW 17 78931391 missense probably benign
R0310:Cebpz UTSW 17 78926124 missense probably damaging 1.00
R0436:Cebpz UTSW 17 78935650 missense probably benign 0.00
R0589:Cebpz UTSW 17 78936879 missense probably damaging 1.00
R0828:Cebpz UTSW 17 78925982 missense probably benign 0.04
R1355:Cebpz UTSW 17 78935324 missense probably benign 0.01
R1367:Cebpz UTSW 17 78923313 missense probably benign
R1583:Cebpz UTSW 17 78934752 missense probably damaging 1.00
R1639:Cebpz UTSW 17 78934606 missense possibly damaging 0.49
R1818:Cebpz UTSW 17 78935376 missense probably damaging 1.00
R1885:Cebpz UTSW 17 78932116 missense probably benign 0.00
R1908:Cebpz UTSW 17 78934907 nonsense probably null
R1909:Cebpz UTSW 17 78934907 nonsense probably null
R2094:Cebpz UTSW 17 78935554 missense probably benign 0.03
R2314:Cebpz UTSW 17 78920547 critical splice donor site probably null
R2763:Cebpz UTSW 17 78935929 missense probably benign
R2874:Cebpz UTSW 17 78932103 splice site probably benign
R3807:Cebpz UTSW 17 78935418 missense probably damaging 1.00
R4012:Cebpz UTSW 17 78924467 missense probably damaging 0.98
R5344:Cebpz UTSW 17 78926113 missense possibly damaging 0.82
R5394:Cebpz UTSW 17 78922205 missense probably benign 0.34
R5711:Cebpz UTSW 17 78934611 missense probably damaging 1.00
R5902:Cebpz UTSW 17 78925937 missense probably benign 0.20
R6238:Cebpz UTSW 17 78936910 missense possibly damaging 0.87
R6257:Cebpz UTSW 17 78935832 missense probably benign 0.17
R6825:Cebpz UTSW 17 78919963 missense probably damaging 1.00
Posted On2015-04-16