Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Cebpz'

22141

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, CBF2, Cbf

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

79226435-79244495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79238820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 663 (S663P)

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: S663P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: S663P

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,098 (GRCm39)	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,841,454 (GRCm39)	V845D	probably damaging	Het
Anxa8	T	A	14: 33,819,896 (GRCm39)	F269Y	probably benign	Het
Anxa8	T	A	14: 33,819,897 (GRCm39)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,268,025 (GRCm39)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,559,617 (GRCm39)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm39)		probably benign	Het
Arhgef26	C	T	3: 62,355,680 (GRCm39)	H751Y	probably benign	Het
Asic4	A	T	1: 75,446,331 (GRCm39)	Q291L	possibly damaging	Het
Bap1	T	C	14: 30,978,681 (GRCm39)	Y31H	probably damaging	Het
Brf1	A	T	12: 112,924,759 (GRCm39)	V655D	probably damaging	Het
Ces2h	A	G	8: 105,744,693 (GRCm39)	D357G	probably benign	Het
Cfap36	T	C	11: 29,194,073 (GRCm39)	T90A	probably benign	Het
Ciita	A	T	16: 10,330,134 (GRCm39)	D803V	probably damaging	Het
Clnk	C	A	5: 38,931,951 (GRCm39)		probably benign	Het
Cyp46a1	A	G	12: 108,317,470 (GRCm39)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 33,160,080 (GRCm39)	I98T	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dll3	T	A	7: 28,000,746 (GRCm39)	D103V	possibly damaging	Het
Dnai1	T	A	4: 41,629,814 (GRCm39)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,111,425 (GRCm39)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,494,095 (GRCm39)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fn1	T	A	1: 71,663,269 (GRCm39)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 48,180,104 (GRCm39)	D599G	unknown	Het
Frrs1	T	C	3: 116,675,456 (GRCm39)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,926,935 (GRCm39)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,350,317 (GRCm39)		probably benign	Het
Gm5148	T	C	3: 37,768,926 (GRCm39)	E98G	probably benign	Het
Gpr141	T	C	13: 19,936,428 (GRCm39)	I116V	probably benign	Het
Hic1	T	C	11: 75,058,169 (GRCm39)	N240S	probably damaging	Het
Hpx	G	A	7: 105,241,445 (GRCm39)	T322I	probably damaging	Het
Hs3st4	A	T	7: 123,996,416 (GRCm39)	M361L	probably benign	Het
Ifrd1	A	G	12: 40,257,129 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 43,755,319 (GRCm39)	C173S	probably damaging	Het
Krt25	A	T	11: 99,213,524 (GRCm39)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,092,267 (GRCm39)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,901,345 (GRCm39)	V550E	probably benign	Het
Macf1	A	G	4: 123,334,540 (GRCm39)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,174,281 (GRCm39)		probably benign	Het
Mcm5	T	A	8: 75,847,508 (GRCm39)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,975,831 (GRCm39)	R478C	probably damaging	Het
Med10	T	C	13: 69,959,817 (GRCm39)		probably benign	Het
Mrpl4	T	C	9: 20,919,888 (GRCm39)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,687,892 (GRCm39)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,551,827 (GRCm39)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,143,204 (GRCm39)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,685,138 (GRCm39)	R81W	probably damaging	Het
Neil1	T	C	9: 57,051,030 (GRCm39)		probably benign	Het
Neto2	A	G	8: 86,367,673 (GRCm39)	I357T	possibly damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,643,607 (GRCm39)	S3P	probably benign	Het
Or52h7	A	T	7: 104,214,210 (GRCm39)	I261L	probably benign	Het
Plce1	T	C	19: 38,512,863 (GRCm39)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,355,267 (GRCm39)		probably benign	Het
Psapl1	T	A	5: 36,361,975 (GRCm39)	V189E	probably damaging	Het
Ptdss2	T	G	7: 140,735,232 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,307,322 (GRCm39)	C661R	probably benign	Het
Rpap1	T	C	2: 119,595,380 (GRCm39)		probably null	Het
Rrp1b	A	G	17: 32,279,426 (GRCm39)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,377,982 (GRCm39)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,305,260 (GRCm39)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,183,885 (GRCm39)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,701,679 (GRCm39)		probably benign	Het
Tpst1	T	A	5: 130,130,627 (GRCm39)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,818,600 (GRCm39)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,378,514 (GRCm39)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,482,596 (GRCm39)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,487,048 (GRCm39)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,637,863 (GRCm39)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,326,053 (GRCm39)	M328L	probably benign	Het
Zp2	A	G	7: 119,736,423 (GRCm39)	F340S	probably damaging	Het

Other mutations in Cebpz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGCACCTCCAGAATTGTCACACG -3'
(R):5'- CAGTGAGTCTCTGAAACTCTGCACC -3'

Sequencing Primer
(F):5'- TTGTCACACGCATGTGCATG -3'
(R):5'- TCTGAAACTCTGCACCACATAAATG -3'

Posted On

2013-04-12