Incidental Mutation 'IGL02698:Cebpz'
ID304011
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: 0.968) question?
Stock #IGL02698
Quality Score
Status
Chromosome17
Chromosomal Location78919006-78937070 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78935574 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 217 (V217A)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]
Predicted Effect probably benign
Transcript: ENSMUST00000024885
AA Change: V217A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: V217A

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpp21 T A 9: 112,185,744 probably benign Het
Car8 A T 4: 8,185,598 I186N probably benign Het
Ccdc174 G A 6: 91,890,853 S183N probably benign Het
Ccdc66 T A 14: 27,490,792 K525* probably null Het
Cfap36 C A 11: 29,247,014 probably null Het
Cpne4 T C 9: 105,032,785 V527A probably damaging Het
Crh T G 3: 19,694,190 D96A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcp1a A T 14: 30,505,542 probably benign Het
Ddhd1 A T 14: 45,605,206 probably benign Het
Dis3l2 C T 1: 87,048,829 probably benign Het
Dopey1 T C 9: 86,524,359 probably benign Het
Etv3 A G 3: 87,536,578 T490A possibly damaging Het
Fastkd2 A G 1: 63,747,999 T531A probably benign Het
Fat1 C T 8: 45,023,164 A1749V probably benign Het
Fgfr1 T A 8: 25,573,608 L761* probably null Het
Gcc2 A G 10: 58,271,290 K683E possibly damaging Het
Gm17677 T C 9: 35,741,120 probably benign Het
Gm5117 C T 8: 31,739,739 noncoding transcript Het
Hif1a T C 12: 73,930,771 probably null Het
Inha A G 1: 75,509,883 E274G probably damaging Het
Itih2 G T 2: 10,130,501 P26H probably damaging Het
Kif23 G A 9: 61,925,001 T620I possibly damaging Het
Klhl30 T C 1: 91,353,707 F10S probably damaging Het
Kmt2b T C 7: 30,578,693 probably benign Het
Lmf2 A C 15: 89,354,154 L174R probably damaging Het
Med13l T C 5: 118,762,829 L2216P probably damaging Het
Mmp1b T A 9: 7,384,877 L257F probably damaging Het
Net1 A G 13: 3,887,569 probably null Het
Nfasc A G 1: 132,634,737 V100A probably benign Het
Nr4a2 A G 2: 57,108,160 F535S probably damaging Het
Ntn4 G T 10: 93,644,659 A45S probably benign Het
Olfr1141 T A 2: 87,753,844 K50* probably null Het
Olfr1197 T A 2: 88,729,471 I43F probably damaging Het
Olfr1386 T A 11: 49,470,863 F237L probably benign Het
Olfr243 T C 7: 103,717,278 V228A probably damaging Het
Olfr25 A G 9: 38,330,210 T208A probably benign Het
Pappa A T 4: 65,181,020 E592V probably damaging Het
Pi4ka A T 16: 17,291,168 I1630N probably damaging Het
Ptprb A G 10: 116,363,280 D1997G probably benign Het
Rc3h2 A T 2: 37,405,300 S235T probably damaging Het
S1pr1 T A 3: 115,712,097 K283* probably null Het
Scn5a T A 9: 119,521,097 T904S probably damaging Het
Sema6d T C 2: 124,653,723 L30P possibly damaging Het
Slc26a7 A C 4: 14,593,867 S83A possibly damaging Het
Slco1a6 C A 6: 142,103,011 G348* probably null Het
Srgap3 C T 6: 112,746,928 V524I probably damaging Het
Stxbp3-ps A T 19: 9,558,324 noncoding transcript Het
Sv2b C T 7: 75,140,978 probably null Het
Sympk T C 7: 19,045,634 I663T probably benign Het
Ttn C A 2: 76,944,771 V1976L probably damaging Het
Uqcrc1 T C 9: 108,947,943 probably null Het
Vmn2r111 T C 17: 22,571,245 Y260C probably damaging 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
IGL02755:Cebpz APN 17 78931330 missense probably damaging 1.00
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
R7735:Cebpz UTSW 17 78925913 critical splice donor site probably null
R7994:Cebpz UTSW 17 78934599 missense probably damaging 0.99
R8045:Cebpz UTSW 17 78932156 missense probably damaging 0.96
R8210:Cebpz UTSW 17 78923256 missense probably benign 0.20
Posted On2015-04-16