Mutagenetix > Incidental Mutations

Incidental Mutation 'R6257:Cebpz'

506436

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, Cbf, CBF2

MMRRC Submission

044374-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78919006-78937070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78935832 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 131 (E131G)

Ref Sequence

ENSEMBL: ENSMUSP00000024885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]

Predicted Effect

probably benign
Transcript: ENSMUST00000024885
AA Change: E131G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: E131G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 35,961,182	N313K	probably benign	Het
Adamts2	T	C	11: 50,775,326	V383A	probably damaging	Het
Adamts6	A	T	13: 104,462,282	Q877L	probably benign	Het
Adgre4	C	T	17: 55,802,133	T380I	possibly damaging	Het
Aspm	A	G	1: 139,482,053		probably null	Het
Atg16l2	A	G	7: 101,301,895		probably null	Het
Bcl6b	C	T	11: 70,226,052	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,281,619		probably null	Het
Casp8ap2	A	G	4: 32,641,364	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Ccser1	A	G	6: 61,373,962	D501G	probably damaging	Het
Ccser1	A	G	6: 62,379,785	T736A	probably benign	Het
Cd164l2	T	A	4: 133,221,034	C19S	unknown	Het
Cdk15	G	A	1: 59,257,105		probably null	Het
Ces1d	T	C	8: 93,166,397	D519G	probably benign	Het
Cftr	A	C	6: 18,282,501	T1067P	probably benign	Het
Chd1	T	G	17: 15,730,203		probably null	Het
Chil4	T	A	3: 106,204,096	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,481,330	S173T	probably damaging	Het
Cpd	A	T	11: 76,812,670	F456I	probably benign	Het
Cst8	C	A	2: 148,805,445	A125E	probably damaging	Het
Dars2	G	T	1: 161,041,828	P617Q	probably damaging	Het
Defb26	A	G	2: 152,507,940	V140A	unknown	Het
Dntt	T	G	19: 41,053,062	V395G	probably damaging	Het
Dock10	G	A	1: 80,503,696		probably benign	Het
Dscam	T	C	16: 96,673,714	N1216S	possibly damaging	Het
En1	A	T	1: 120,603,907	D292V	unknown	Het
Erbb4	A	T	1: 68,396,273	L155Q	probably damaging	Het
Erbin	T	C	13: 103,862,288	T197A	probably benign	Het
Fat2	A	G	11: 55,262,581	F3602L	probably benign	Het
Fuk	A	T	8: 110,890,545	C365S	probably benign	Het
Gm3443	A	T	19: 21,555,711	D13V	unknown	Het
Gm6401	T	C	14: 41,967,871	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,700,641	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
H2-T24	T	A	17: 36,014,682	T305S	probably benign	Het
Ksr2	A	T	5: 117,414,844	M6L	probably benign	Het
Lama2	A	G	10: 26,986,899	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,746,559	T123A	probably benign	Het
Lrp1b	T	A	2: 40,596,969		probably null	Het
Ltn1	G	A	16: 87,411,774	A812V	possibly damaging	Het
Maml2	C	T	9: 13,620,426	S312L	probably damaging	Het
Myo7b	T	A	18: 32,013,415	N106Y	probably damaging	Het
Nacc2	A	T	2: 26,060,408	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,694,177	I224T	probably damaging	Het
Nf1	A	T	11: 79,549,491	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,795,905		probably null	Het
Nup155	C	T	15: 8,150,798	R1120*	probably null	Het
Oas3	C	A	5: 120,761,135		probably benign	Het
Ocln	T	C	13: 100,539,509	I159V	probably benign	Het
Olfr315	T	A	11: 58,779,003	V292E	probably damaging	Het
Olfr406	T	C	11: 74,270,007	V206A	probably damaging	Het
Os9	A	C	10: 127,119,137	C181G	probably damaging	Het
Phldb1	C	T	9: 44,696,140	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,942,195	T208I	probably benign	Het
Plppr4	T	C	3: 117,322,579	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,568,163	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,640	N45K	probably damaging	Het
Rbl2	T	C	8: 91,115,678	L987P	probably damaging	Het
Runx1	T	A	16: 92,695,911		probably benign	Het
Sept4	C	A	11: 87,590,349	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Sri	T	A	5: 8,059,596		probably null	Het
St3gal3	C	T	4: 118,107,678		probably benign	Het
Tfpt	A	T	7: 3,629,567	L3*	probably null	Het
Tgfb3	T	C	12: 86,077,841	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,988	C678*	probably null	Het
Tmbim1	A	G	1: 74,293,066	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,512,297		probably benign	Het
Tmprss15	A	T	16: 78,972,225	V769E	probably damaging	Het
Trak1	C	T	9: 121,446,755	R175C	probably damaging	Het
Trak1	G	T	9: 121,367,224	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,390,168	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,649,835		probably null	Het
Ubr7	T	A	12: 102,765,840	C158*	probably null	Het
Vmn2r79	A	T	7: 87,002,570	L392F	probably benign	Het
Zfp536	T	A	7: 37,480,405	D925V	probably 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
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
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'- GGGCTTTGTACTTGGACACGAC -3'
(R):5'- GGAACCATTGACGACCTTCAAC -3'

Sequencing Primer
(F):5'- GTACTTGGACACGACATCTGG -3'
(R):5'- CCTTCAACAAGGTGAACTGGAGTC -3'

Posted On

2018-03-15