Incidental Mutation 'R1583:Cebpz'
ID 177287
Institutional Source Beutler Lab
Gene Symbol Cebpz
Ensembl Gene ENSMUSG00000024081
Gene Name CCAAT/enhancer binding protein zeta
Synonyms Cebpa-rs1, Cbf, CBF2
MMRRC Submission 039620-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R1583 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 78919006-78937070 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78934752 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 491 (N491S)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024885
AA Change: N491S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: N491S

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 0.6829 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 99% (79/80)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 76,882,681 (GRCm38) S691P probably benign Het
Adgrb3 T C 1: 25,226,831 (GRCm38) probably null Het
Ankar A G 1: 72,679,555 (GRCm38) probably benign Het
Aplf A T 6: 87,646,033 (GRCm38) Y355N probably damaging Het
Bms1 A G 6: 118,389,389 (GRCm38) probably benign Het
Catsperb T C 12: 101,463,114 (GRCm38) I182T probably damaging Het
Cd300ld2 T C 11: 115,013,777 (GRCm38) D88G probably benign Het
Crybg2 T C 4: 134,081,459 (GRCm38) S1415P probably damaging Het
Ddc A G 11: 11,829,131 (GRCm38) V331A probably benign Het
Decr2 T C 17: 26,083,024 (GRCm38) E244G probably damaging Het
Dhrs11 A G 11: 84,823,117 (GRCm38) M136T probably damaging Het
Eapp G A 12: 54,685,948 (GRCm38) Q126* probably null Het
Fam111a T A 19: 12,587,778 (GRCm38) V297D probably damaging Het
Fbxo10 A C 4: 45,062,118 (GRCm38) L136R probably damaging Het
Fbxo30 T A 10: 11,291,374 (GRCm38) H613Q possibly damaging Het
Frk A T 10: 34,591,810 (GRCm38) probably null Het
Gm10392 T A 11: 77,517,481 (GRCm38) D104V probably benign Het
Gpn1 A G 5: 31,497,338 (GRCm38) E78G possibly damaging Het
Hhip T C 8: 79,990,276 (GRCm38) Y506C probably damaging Het
Hid1 G A 11: 115,356,750 (GRCm38) S274L possibly damaging Het
Immp2l G T 12: 41,703,765 (GRCm38) probably benign Het
Klhl21 T C 4: 152,009,624 (GRCm38) F228L possibly damaging Het
Lamc1 T A 1: 153,243,478 (GRCm38) probably null Het
Lars1 G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lratd1 G A 12: 14,150,408 (GRCm38) A106V probably benign Het
Magi2 T C 5: 19,227,332 (GRCm38) V15A probably benign Het
Map2k7 T C 8: 4,243,621 (GRCm38) probably null Het
Mga T A 2: 119,963,960 (GRCm38) H2590Q possibly damaging Het
Mlxip T C 5: 123,450,223 (GRCm38) I238T possibly damaging Het
Mylk T A 16: 34,875,586 (GRCm38) D230E probably benign Het
Nacad T A 11: 6,601,185 (GRCm38) T669S probably benign Het
Nin C T 12: 70,031,738 (GRCm38) M1691I probably benign Het
Nlrp4d C T 7: 10,382,237 (GRCm38) A203T probably damaging Het
Or10aa1 T C 1: 174,042,480 (GRCm38) F177L probably benign Het
Or10q12 A T 19: 13,768,510 (GRCm38) H56L probably benign Het
Or4c106 T G 2: 88,852,262 (GRCm38) F104C probably damaging Het
Or4k5 C A 14: 50,148,774 (GRCm38) M33I probably benign Het
Or4k51 A T 2: 111,754,425 (GRCm38) M59L probably damaging Het
Or5ac19 A G 16: 59,269,031 (GRCm38) V212A probably benign Het
Osbp C A 19: 11,977,829 (GRCm38) Q282K probably benign Het
Osbpl2 A G 2: 180,148,463 (GRCm38) S177G probably damaging Het
Pax1 A G 2: 147,366,255 (GRCm38) H261R possibly damaging Het
Pcif1 A T 2: 164,886,727 (GRCm38) L274F probably damaging Het
Pkhd1 A G 1: 20,117,825 (GRCm38) S3420P probably benign Het
Prss3 A C 6: 41,377,627 (GRCm38) probably benign Het
Ptk2b T C 14: 66,163,114 (GRCm38) T751A possibly damaging Het
Pus10 T C 11: 23,673,239 (GRCm38) V126A probably damaging Het
Rai14 A C 15: 10,587,916 (GRCm38) D258E probably damaging Het
Rbp3 T C 14: 33,954,524 (GRCm38) V143A possibly damaging Het
Sarm1 G A 11: 78,483,327 (GRCm38) Q625* probably null Het
Scgb1b21 T G 7: 33,527,667 (GRCm38) noncoding transcript Het
Scrn1 A T 6: 54,520,769 (GRCm38) V279E probably damaging Het
Sipa1l2 T C 8: 125,421,895 (GRCm38) T1670A probably damaging Het
Slc9a4 A T 1: 40,600,962 (GRCm38) I305F probably benign Het
Smarcc1 A G 9: 110,213,617 (GRCm38) T918A probably damaging Het
Tas2r109 A T 6: 132,980,426 (GRCm38) H180Q probably benign Het
Tas2r121 G A 6: 132,700,230 (GRCm38) R260* probably null Het
Tenm3 T C 8: 48,279,074 (GRCm38) D1249G probably benign Het
Tgtp1 C G 11: 48,987,530 (GRCm38) G116A probably damaging Het
Tial1 A G 7: 128,443,910 (GRCm38) Y317H probably damaging Het
Top6bl T A 19: 4,652,171 (GRCm38) K282N probably damaging Het
Trim66 A T 7: 109,455,080 (GRCm38) W1308R probably damaging Het
Ulk2 T G 11: 61,783,545 (GRCm38) K878N possibly damaging Het
Zfp41 T A 15: 75,618,291 (GRCm38) S31T possibly damaging Het
Other mutations in Cebpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Cebpz APN 17 78,934,830 (GRCm38) missense probably damaging 1.00
IGL01558:Cebpz APN 17 78,935,305 (GRCm38) missense probably damaging 1.00
IGL01724:Cebpz APN 17 78,935,913 (GRCm38) missense probably benign 0.01
IGL01938:Cebpz APN 17 78,934,961 (GRCm38) nonsense probably null
IGL02165:Cebpz APN 17 78,922,169 (GRCm38) missense probably damaging 1.00
IGL02397:Cebpz APN 17 78,923,261 (GRCm38) missense possibly damaging 0.63
IGL02455:Cebpz APN 17 78,935,036 (GRCm38) missense probably benign 0.16
IGL02690:Cebpz APN 17 78,922,557 (GRCm38) missense probably damaging 1.00
IGL02698:Cebpz APN 17 78,935,574 (GRCm38) missense probably benign 0.03
IGL02755:Cebpz APN 17 78,931,330 (GRCm38) missense probably damaging 1.00
IGL02827:Cebpz APN 17 78,929,331 (GRCm38) missense probably damaging 1.00
IGL03149:Cebpz APN 17 78,922,553 (GRCm38) missense probably benign 0.01
cedar_hill UTSW 17 78,936,910 (GRCm38) missense possibly damaging 0.87
R0125:Cebpz UTSW 17 78,919,888 (GRCm38) missense possibly damaging 0.95
R0138:Cebpz UTSW 17 78,931,391 (GRCm38) missense probably benign
R0310:Cebpz UTSW 17 78,926,124 (GRCm38) missense probably damaging 1.00
R0436:Cebpz UTSW 17 78,935,650 (GRCm38) missense probably benign 0.00
R0589:Cebpz UTSW 17 78,936,879 (GRCm38) missense probably damaging 1.00
R0828:Cebpz UTSW 17 78,925,982 (GRCm38) missense probably benign 0.04
R1355:Cebpz UTSW 17 78,935,324 (GRCm38) missense probably benign 0.01
R1367:Cebpz UTSW 17 78,923,313 (GRCm38) missense probably benign
R1639:Cebpz UTSW 17 78,934,606 (GRCm38) missense possibly damaging 0.49
R1818:Cebpz UTSW 17 78,935,376 (GRCm38) missense probably damaging 1.00
R1885:Cebpz UTSW 17 78,932,116 (GRCm38) missense probably benign 0.00
R1908:Cebpz UTSW 17 78,934,907 (GRCm38) nonsense probably null
R1909:Cebpz UTSW 17 78,934,907 (GRCm38) nonsense probably null
R2094:Cebpz UTSW 17 78,935,554 (GRCm38) missense probably benign 0.03
R2314:Cebpz UTSW 17 78,920,547 (GRCm38) critical splice donor site probably null
R2763:Cebpz UTSW 17 78,935,929 (GRCm38) missense probably benign
R2874:Cebpz UTSW 17 78,932,103 (GRCm38) splice site probably benign
R3807:Cebpz UTSW 17 78,935,418 (GRCm38) missense probably damaging 1.00
R4012:Cebpz UTSW 17 78,924,467 (GRCm38) missense probably damaging 0.98
R5344:Cebpz UTSW 17 78,926,113 (GRCm38) missense possibly damaging 0.82
R5394:Cebpz UTSW 17 78,922,205 (GRCm38) missense probably benign 0.34
R5711:Cebpz UTSW 17 78,934,611 (GRCm38) missense probably damaging 1.00
R5902:Cebpz UTSW 17 78,925,937 (GRCm38) missense probably benign 0.20
R6238:Cebpz UTSW 17 78,936,910 (GRCm38) missense possibly damaging 0.87
R6257:Cebpz UTSW 17 78,935,832 (GRCm38) missense probably benign 0.17
R6825:Cebpz UTSW 17 78,919,963 (GRCm38) missense probably damaging 1.00
R7735:Cebpz UTSW 17 78,925,913 (GRCm38) critical splice donor site probably null
R7994:Cebpz UTSW 17 78,934,599 (GRCm38) missense probably damaging 0.99
R8045:Cebpz UTSW 17 78,932,156 (GRCm38) missense probably damaging 0.96
R8210:Cebpz UTSW 17 78,923,256 (GRCm38) missense probably benign 0.20
R8694:Cebpz UTSW 17 78,926,905 (GRCm38) missense probably damaging 1.00
R8712:Cebpz UTSW 17 78,921,652 (GRCm38) missense possibly damaging 0.81
R8774:Cebpz UTSW 17 78,921,644 (GRCm38) missense probably benign 0.09
R8774-TAIL:Cebpz UTSW 17 78,921,644 (GRCm38) missense probably benign 0.09
R9058:Cebpz UTSW 17 78,935,798 (GRCm38) missense probably benign 0.00
R9514:Cebpz UTSW 17 78,932,255 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGCAAAGTTTCCACCACATTCATGC -3'
(R):5'- AGAATTGCTACGAAAGCCTCCCATC -3'

Sequencing Primer
(F):5'- GCACTTACCTGTATAAAGCTGTG -3'
(R):5'- AAGCCTCCCATCTGTTAGAAGTG -3'
Posted On 2014-04-24