Mutagenetix > Incidental Mutations

Incidental Mutation 'R1367:Cebpz'

156098

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, Cbf, CBF2

MMRRC Submission

039432-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R1367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78919006-78937070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78923313 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 825 (V825A)

Ref Sequence

ENSEMBL: ENSMUSP00000024885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000063817] [ENSMUST00000180077] [ENSMUST00000192288]

Predicted Effect

probably benign
Transcript: ENSMUST00000024885
AA Change: V825A

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

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: V825A

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: ENSMUST00000063817

SMART Domains

Protein: ENSMUSP00000068772
Gene: ENSMUSG00000062691

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180077

SMART Domains

Protein: ENSMUSP00000136411
Gene: ENSMUSG00000062691

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192288

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.2%
20x: 86.6%

Validation Efficiency

98% (48/49)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	G	T	9: 58,498,980	D58Y	probably damaging	Het
Abcc1	T	C	16: 14,443,386	V676A	probably damaging	Het
Acvr1b	T	C	15: 101,193,938	L33P	possibly damaging	Het
Adamts12	T	G	15: 11,256,894		probably benign	Het
Ank1	T	A	8: 23,111,803		probably benign	Het
Arhgef10	T	A	8: 14,940,225	D233E	probably damaging	Het
Cd209e	T	C	8: 3,849,084	*209W	probably null	Het
Cep170	A	G	1: 176,735,724	F1575L	probably damaging	Het
Exoc2	A	T	13: 30,882,273	Y473*	probably null	Het
F3	A	G	3: 121,729,374	T78A	probably damaging	Het
Fanca	G	A	8: 123,304,281		probably benign	Het
Gga2	G	A	7: 121,998,915	R319*	probably null	Het
Gid8	A	G	2: 180,713,232	I10M	probably benign	Het
Glrb	A	G	3: 80,862,004	W139R	probably damaging	Het
H2-M1	A	G	17: 36,671,167	S181P	probably benign	Het
Hectd3	G	T	4: 116,997,170	V310L	probably null	Het
Kif17	C	A	4: 138,277,994	S290*	probably null	Het
Kif26b	A	G	1: 178,916,463	N1375D	probably damaging	Het
Lgr4	C	G	2: 109,991,135	P121A	probably damaging	Het
Ly75	A	G	2: 60,293,758		probably null	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Nek3	T	C	8: 22,160,361		probably benign	Het
Nin	A	T	12: 70,043,929	L904Q	probably damaging	Het
Nlrp14	A	G	7: 107,182,811	D405G	probably benign	Het
Nuak1	C	T	10: 84,392,328		probably benign	Het
Olfr191	T	A	16: 59,086,343	I47F	probably benign	Het
Plcg2	T	A	8: 117,615,238	W1113R	probably damaging	Het
Pms2	G	A	5: 143,925,913	V613M	probably damaging	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Pxk	T	G	14: 8,150,915		probably null	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Rbm28	A	T	6: 29,137,640	I438N	probably damaging	Het
Rictor	T	C	15: 6,790,638		probably benign	Het
Slc41a1	A	G	1: 131,844,008	T387A	probably benign	Het
Slc44a2	T	C	9: 21,343,026	V228A	probably benign	Het
Slpi	A	G	2: 164,354,867		probably benign	Het
Tkfc	A	G	19: 10,593,474	S481P	probably benign	Het
Tll2	G	A	19: 41,120,228	R328C	probably damaging	Het
Tns3	T	C	11: 8,448,704	H1216R	probably benign	Het
Ugt2b38	A	T	5: 87,424,114	S20T	probably benign	Het
Usp48	T	A	4: 137,639,295	D921E	possibly damaging	Het
Usp48	T	A	4: 137,644,463	S967T	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Zdhhc23	A	G	16: 43,974,150	S54P	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
R0828:Cebpz	UTSW	17	78925982	missense	probably benign	0.04
R1355:Cebpz	UTSW	17	78935324	missense	probably benign	0.01
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
R8045:Cebpz	UTSW	17	78932156	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGCCTGCAAACAGAATTGTCTGACAT -3'
(R):5'- AATTATGCCTCACGTTTAACTCAACCCT -3'

Sequencing Primer
(F):5'- GAGTAAGGTCACCATAGGCTATTTC -3'
(R):5'- GTGCCCATTTCAGTATCCATAACAC -3'

Posted On

2014-02-11