Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Cebpz'

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

Is this an essential gene?

Probably essential (E-score: 0.973) question?

Stock #

R1583 (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 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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024887

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_28	95	349	5.5e-75	PFAM

Meta Mutation Damage Score

0.6829

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831		probably null	Het
Ankar	A	G	1: 72,679,555		probably benign	Het
Aplf	A	T	6: 87,646,033	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389		probably benign	Het
Catsperb	T	C	12: 101,463,114	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777	D88G	probably benign	Het
Crybg2	T	C	4: 134,081,459	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810		probably null	Het
Gm10392	T	A	11: 77,517,481	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765		probably benign	Het
Klhl21	T	C	4: 152,009,624	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478		probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621		probably null	Het
Mga	T	A	2: 119,963,960	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185	T669S	probably benign	Het
Nin	C	T	12: 70,031,738	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627		probably benign	Het
Ptk2b	T	C	14: 66,163,114	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291	S31T	possibly damaging	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
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
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
R8694:Cebpz	UTSW	17	78926905	missense	probably damaging	1.00
R8712:Cebpz	UTSW	17	78921652	missense	possibly damaging	0.81
R8774:Cebpz	UTSW	17	78921644	missense	probably benign	0.09
R8774-TAIL:Cebpz	UTSW	17	78921644	missense	probably benign	0.09
R9058:Cebpz	UTSW	17	78935798	missense	probably benign	0.00
R9514:Cebpz	UTSW	17	78932255	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