Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Cebpz'

274998

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, Cbf, CBF2

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R3807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78919006-78937070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78935418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 269 (L269Q)

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: L269Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: L269Q

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 111,990,370	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,033	I563T	probably damaging	Het
Armcx1	T	C	X: 134,721,265	V372A	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,214,002	N329K	probably benign	Het
Ccdc113	A	T	8: 95,542,653	N193I	probably damaging	Het
Cttn	C	T	7: 144,445,851	V290M	probably damaging	Het
Ctu1	T	C	7: 43,676,673	L252P	probably damaging	Het
Dmbt1	T	A	7: 131,112,090	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,650,592	W135R	probably damaging	Het
Entpd7	T	G	19: 43,725,540		probably null	Het
Eri2	A	T	7: 119,786,008	C423*	probably null	Het
Erich1	T	C	8: 14,033,695	N125S	probably benign	Het
Fam149a	T	A	8: 45,381,610	T51S	possibly damaging	Het
Fam71b	G	A	11: 46,404,953	A51T	possibly damaging	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Frem2	A	T	3: 53,653,449	D1212E	probably benign	Het
Get4	G	T	5: 139,252,531	V23F	probably damaging	Het
Gm11595	C	T	11: 99,772,554	R100H	unknown	Het
Gria1	T	C	11: 57,310,678	W712R	probably damaging	Het
Herc2	A	G	7: 56,207,809	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,981,684	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,190,665		probably null	Het
Lrrc56	A	G	7: 141,209,385	T393A	probably benign	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Med14	T	C	X: 12,687,177	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,278,187	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,457,377	R306*	probably null	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,081,352		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,359		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,371		probably benign	Het
Npr1	A	T	3: 90,458,726	V586E	probably damaging	Het
Olfr192	A	C	16: 59,098,843	*50G	probably null	Het
Olfr715b	A	G	7: 107,106,463	S133P	probably benign	Het
Pcdhb4	T	C	18: 37,309,314	F559S	probably damaging	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Psme4	T	A	11: 30,856,027		probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rgs11	A	T	17: 26,203,500	I69F	probably damaging	Het
Ryr1	C	T	7: 29,020,152	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,783,322	V1359I	probably benign	Het
Sis	A	T	3: 72,925,596	V956E	probably benign	Het
Slc35f3	T	A	8: 126,389,239	W302R	probably damaging	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Tdp2	C	A	13: 24,831,793	S21*	probably null	Het
Tfrc	A	T	16: 32,616,826	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,787,580	I917F	probably damaging	Het
Vbp1	T	C	X: 75,523,342	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,502,852	W185*	probably null	Het
Vmn1r70	A	G	7: 10,633,788	T68A	probably benign	Het
Zfp518a	A	G	19: 40,914,797	K1057E	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
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
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'- AGTCCTTGTTGCCACTGGAC -3'
(R):5'- ACAGCGGTGAGTATTCCTTG -3'

Sequencing Primer
(F):5'- GACAACTCTTCCAGTTTGTGG -3'
(R):5'- TGTCGTGTCCAAGTACAAAGC -3'

Posted On

2015-04-02