Incidental Mutation 'R1885:Cebpz'
ID 209496
Institutional Source Beutler Lab
Gene Symbol Cebpz
Ensembl Gene ENSMUSG00000024081
Gene Name CCAAT/enhancer binding protein zeta
Synonyms Cebpa-rs1, CBF2, Cbf
MMRRC Submission 039906-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1885 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 79226435-79244495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79239545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 625 (D625E)
Ref Sequence ENSEMBL: ENSMUSP00000024885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024885]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024885
AA Change: D625E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: D625E

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
  • 1x: 97.0%
  • 3x: 96.1%
  • 10x: 92.7%
  • 20x: 85.1%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
Aarsd1 T C 11: 101,302,227 (GRCm39) T278A probably benign Het
Acox2 C T 14: 8,248,102 (GRCm38) M393I probably benign Het
Adcy10 A G 1: 165,398,377 (GRCm39) I1491M probably benign Het
Adcy3 T A 12: 4,184,951 (GRCm39) V209E probably damaging Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Ap2b1 T A 11: 83,281,561 (GRCm39) N822K probably damaging Het
Apobec3 A T 15: 79,781,906 (GRCm39) H82L probably damaging Het
Atg9b A T 5: 24,593,252 (GRCm39) W384R probably damaging Het
Atp8a1 A G 5: 67,904,661 (GRCm39) V506A possibly damaging Het
Atxn1 G T 13: 45,721,280 (GRCm39) A205D probably benign Het
B4galnt3 T C 6: 120,200,601 (GRCm39) E223G probably damaging Het
Brip1 C A 11: 86,029,641 (GRCm39) G631V probably damaging Het
Cacna1i A G 15: 80,243,145 (GRCm39) E434G probably damaging Het
Caprin2 A T 6: 148,779,383 (GRCm39) probably null Het
Cblif G A 19: 11,729,688 (GRCm39) A216T probably benign Het
Ccdc80 A C 16: 44,917,083 (GRCm39) D613A probably benign Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Coq6 C A 12: 84,419,238 (GRCm39) N388K probably damaging Het
Cracd A G 5: 77,004,589 (GRCm39) T317A unknown Het
D430041D05Rik T C 2: 104,060,800 (GRCm39) M1365V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dpysl4 T G 7: 138,676,723 (GRCm39) V391G probably damaging Het
Dyrk4 G T 6: 126,854,144 (GRCm39) Q550K probably benign Het
Epas1 A G 17: 87,112,723 (GRCm39) D107G probably damaging Het
Esrp2 A G 8: 106,858,453 (GRCm39) V636A possibly damaging Het
Etl4 T A 2: 20,748,795 (GRCm39) Y176N probably damaging Het
Etnppl T C 3: 130,423,111 (GRCm39) V264A probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fer T A 17: 64,445,909 (GRCm39) V790D probably damaging Het
Gdpd5 G A 7: 99,109,204 (GRCm39) V575I probably benign Het
Gfus G T 15: 75,798,838 (GRCm39) T123N possibly damaging Het
Gipc3 T C 10: 81,177,181 (GRCm39) I130V probably benign Het
Iqsec3 G A 6: 121,405,326 (GRCm39) probably benign Het
Kdm5d G T Y: 940,781 (GRCm39) probably null Het
Kl A G 5: 150,876,959 (GRCm39) R260G possibly damaging Het
Kras T C 6: 145,177,843 (GRCm39) E143G probably damaging Het
Ksr1 C A 11: 78,911,204 (GRCm39) V11F probably null Het
Ksr1 T C 11: 78,927,347 (GRCm39) T329A probably damaging Het
Marchf6 A G 15: 31,502,952 (GRCm39) V83A probably benign Het
Mettl2 T C 11: 105,022,446 (GRCm39) I212T possibly damaging Het
Mgat3 A G 15: 80,095,820 (GRCm39) I216V probably benign Het
Mkrn3 G A 7: 62,068,486 (GRCm39) A435V probably benign Het
Mlh1 C A 9: 111,087,624 (GRCm39) S24I probably benign Het
Mmel1 G A 4: 154,975,333 (GRCm39) R424Q possibly damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Myh3 A G 11: 66,977,453 (GRCm39) K368E probably benign Het
Myo16 T A 8: 10,372,656 (GRCm39) N118K probably damaging Het
Myo5c A G 9: 75,157,043 (GRCm39) S160G probably damaging Het
Nat1 A T 8: 67,943,653 (GRCm39) I13F probably damaging Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nwd1 T C 8: 73,431,622 (GRCm39) S1207P probably benign Het
Or2y17 T C 11: 49,231,662 (GRCm39) L101P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or5w22 T C 2: 87,363,168 (GRCm39) S264P probably damaging Het
Paqr8 A T 1: 21,005,704 (GRCm39) H286L probably damaging Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pes1 A G 11: 3,919,482 (GRCm39) K52E probably damaging Het
Ppp1r13l T C 7: 19,111,496 (GRCm39) S774P probably damaging Het
Robo2 T C 16: 73,713,033 (GRCm39) D1283G probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Skic3 A T 13: 76,261,166 (GRCm39) R112S probably benign Het
Skic3 A G 13: 76,278,354 (GRCm39) Q556R probably benign Het
Slc2a4 C T 11: 69,835,833 (GRCm39) V339I probably benign Het
Slc39a6 G A 18: 24,734,539 (GRCm39) probably null Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Snx33 T C 9: 56,833,121 (GRCm39) H316R probably benign Het
Spata31d1a T G 13: 59,849,821 (GRCm39) D769A probably damaging Het
Stmn2 A T 3: 8,606,964 (GRCm39) E28V probably damaging Het
Syt9 A G 7: 107,035,736 (GRCm39) D251G probably damaging Het
Tjap1 T C 17: 46,573,347 (GRCm39) T37A probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Tprg1 A G 16: 25,231,641 (GRCm39) T206A probably benign Het
Ubqlnl A T 7: 103,799,272 (GRCm39) M75K possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r12 C T 5: 109,239,942 (GRCm39) G207E probably damaging Het
Xrn2 T G 2: 146,891,281 (GRCm39) L697* probably null Het
Zfp764 A G 7: 127,004,211 (GRCm39) F307L probably benign Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably damaging Het
Zranb2 A T 3: 157,248,793 (GRCm39) probably null 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
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
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'- ATCTATTTAGCTGTACACCCGGC -3'
(R):5'- GAAAGATGTTGGATCCAGGCC -3'

Sequencing Primer
(F):5'- GCAGTGAAGTCTGGCTCCTTC -3'
(R):5'- AGCAAGCGATGTTTCTCAACCTG -3'
Posted On 2014-06-30