Mutagenetix > Incidental Mutations

Incidental Mutation 'R0828:Cebpz'

78411

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, Cbf, CBF2

MMRRC Submission

039008-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R0828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78919006-78937070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78925982 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 772 (E772G)

Ref Sequence

ENSEMBL: ENSMUSP00000024885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024885]

Predicted Effect

probably benign
Transcript: ENSMUST00000024885
AA Change: E772G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: E772G

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

0.1103

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	A	G	16: 13,677,805	Y256C	probably damaging	Het
5730522E02Rik	C	T	11: 25,652,020	C70Y	unknown	Het
Abi3bp	C	T	16: 56,677,830	T929I	probably damaging	Het
Adap2	C	A	11: 80,165,664		probably benign	Het
Adgrg5	A	G	8: 94,941,785		probably null	Het
Afdn	C	A	17: 13,903,998	N1803K	probably damaging	Het
Alox12b	T	C	11: 69,166,306	L451P	possibly damaging	Het
Ankrd26	T	C	6: 118,533,473		probably benign	Het
Bcr	A	T	10: 75,157,207		probably benign	Het
Cacna1c	T	C	6: 118,757,386	N300D	probably benign	Het
Camsap1	G	T	2: 25,939,085	Q876K	probably damaging	Het
Cdh10	A	G	15: 18,986,751	D356G	possibly damaging	Het
Cdipt	T	A	7: 126,976,920	Y16N	probably damaging	Het
Cep350	A	G	1: 155,953,246	I304T	probably benign	Het
Chpt1	C	A	10: 88,476,415	G9V	probably damaging	Het
Col6a5	T	A	9: 105,862,064		probably null	Het
Dock7	G	T	4: 99,015,745	P688T	probably damaging	Het
Ephb3	T	A	16: 21,219,034		probably benign	Het
Fcgr2b	T	C	1: 170,961,030	Y336C	probably damaging	Het
Flg2	A	T	3: 93,203,332	H889L	unknown	Het
Gucy2c	C	T	6: 136,709,748	V806M	probably damaging	Het
Hmgxb3	T	A	18: 61,171,354	I55F	probably damaging	Het
Igsf9b	T	A	9: 27,319,605	Y301*	probably null	Het
Il12rb2	C	T	6: 67,356,707	R196H	probably benign	Het
Itgam	T	C	7: 128,116,505		probably null	Het
Klhl25	T	C	7: 75,866,195	V283A	probably damaging	Het
Klhl5	T	C	5: 65,162,792	L423P	probably damaging	Het
Krt6a	T	C	15: 101,693,836	N138S	probably damaging	Het
Lrba	A	T	3: 86,608,370		probably null	Het
Map4k5	T	C	12: 69,805,326	T828A	probably damaging	Het
March8	T	A	6: 116,405,678	M434K	probably benign	Het
Mink1	C	T	11: 70,610,145	Q743*	probably null	Het
Mrgpra3	T	C	7: 47,590,136	N14S	probably benign	Het
Mroh7	T	C	4: 106,699,876	S808G	probably damaging	Het
Msi1	T	C	5: 115,430,894		probably null	Het
Nrap	A	G	19: 56,345,558	Y874H	probably damaging	Het
Nup205	T	C	6: 35,194,566	F455L	probably benign	Het
Olfr31	G	T	14: 14,328,800	V230L	probably benign	Het
Piwil2	A	G	14: 70,376,017	V894A	probably damaging	Het
Polr1c	A	G	17: 46,245,064	S173P	probably damaging	Het
Prep	C	T	10: 45,155,525	A564V	probably benign	Het
Rab3gap1	T	C	1: 127,938,185		probably benign	Het
Rcc1	G	C	4: 132,335,825		probably benign	Het
Scn11a	T	A	9: 119,755,007	D1514V	probably benign	Het
Setdb1	G	A	3: 95,338,860	P584S	probably damaging	Het
Slc12a7	A	G	13: 73,788,652	I144V	probably benign	Het
Slc45a4	T	C	15: 73,586,816	M295V	probably benign	Het
Slco1a1	T	A	6: 141,921,839	D456V	possibly damaging	Het
Sspo	G	T	6: 48,498,734	C4928F	probably damaging	Het
St6galnac1	T	A	11: 116,768,997	K163N	probably benign	Het
Tcp11l1	A	T	2: 104,699,836		probably benign	Het
Tns1	T	A	1: 73,919,666	I1715F	probably damaging	Het
Trpa1	C	T	1: 14,875,884	V1008M	probably damaging	Het
Ttc28	A	G	5: 111,223,446	E587G	probably damaging	Het
Ubr4	T	C	4: 139,450,553		probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp8	G	A	2: 126,742,114		probably benign	Het
Zfc3h1	G	T	10: 115,401,707	A464S	possibly damaging	Het
Zfp106	T	C	2: 120,535,603	I108V	probably benign	Het

Other mutations in Cebpz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGGCTAGGGAATGGTTGTCAG -3'
(R):5'- TTCAATACTCAGGGGACCCACTGC -3'

Sequencing Primer
(F):5'- GTCAGAGGGCCTATCATTTAACG -3'
(R):5'- CACTGCAGGATTTCACACTC -3'

Posted On

2013-10-16