Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Cebpz'

204656

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, CBF2, Cbf

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79226435-79244495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79242805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 283 (L283P)

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: L283P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: L283P

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: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,857 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,454,876 (GRCm39)	N564K	probably benign	Het
Ahi1	A	G	10: 20,864,461 (GRCm39)	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,331,725 (GRCm39)	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,814,553 (GRCm39)	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,267 (GRCm39)	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,608,212 (GRCm39)	N561S	possibly damaging	Het
Apob	A	G	12: 8,056,834 (GRCm39)	N1739S	probably damaging	Het
Apob	A	G	12: 8,063,064 (GRCm39)	T236A	possibly damaging	Het
Birc6	G	A	17: 74,956,844 (GRCm39)	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccl20	A	G	1: 83,095,529 (GRCm39)	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,795,576 (GRCm39)	T106I	probably damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Clec4e	T	A	6: 123,262,452 (GRCm39)	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,379,386 (GRCm39)		probably null	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Denr	T	A	5: 124,055,283 (GRCm39)	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,526,568 (GRCm39)		probably null	Het
Dnaaf3	G	T	7: 4,526,569 (GRCm39)	L503M	probably benign	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnai4	A	G	4: 102,929,854 (GRCm39)	V56A	possibly damaging	Het
Efcab3	T	A	11: 104,612,333 (GRCm39)	L652Q	probably benign	Het
Ehd4	C	T	2: 119,932,885 (GRCm39)	W180*	probably null	Het
Ephb2	A	G	4: 136,382,647 (GRCm39)	S984P	probably benign	Het
Eva1a	T	C	6: 82,048,125 (GRCm39)	M1T	probably null	Het
Fam90a1a	C	G	8: 22,453,787 (GRCm39)	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 22,453,788 (GRCm39)	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,447 (GRCm39)	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,072,711 (GRCm39)	L612Q	probably damaging	Het
Fubp1	T	A	3: 151,927,806 (GRCm39)	N419K	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Golga4	T	G	9: 118,402,055 (GRCm39)	V91G	probably damaging	Het
Hip1r	T	C	5: 124,134,018 (GRCm39)		probably null	Het
Ice2	A	G	9: 69,339,383 (GRCm39)	S967G	probably benign	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Impdh2	T	G	9: 108,440,411 (GRCm39)		probably null	Het
Inmt	C	A	6: 55,150,404 (GRCm39)	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,287,886 (GRCm39)	S637G	probably benign	Het
Kansl1	T	C	11: 104,233,283 (GRCm39)	H748R	possibly damaging	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Kifc2	T	C	15: 76,550,281 (GRCm39)	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,784,484 (GRCm39)	Y71H	probably damaging	Het
Ly75	T	G	2: 60,142,121 (GRCm39)	T1330P	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,152,111 (GRCm39)	I198T	possibly damaging	Het
Morc3	A	G	16: 93,652,398 (GRCm39)	Y367C	probably damaging	Het
Mtfr1	A	G	3: 19,269,837 (GRCm39)	T162A	probably damaging	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nup153	A	T	13: 46,835,113 (GRCm39)	N1397K	possibly damaging	Het
Or5h26	T	C	16: 58,988,243 (GRCm39)	K88E	probably benign	Het
Or6x1	T	C	9: 40,098,558 (GRCm39)	V49A	probably benign	Het
Or8b36	T	C	9: 37,937,803 (GRCm39)	S234P	probably damaging	Het
Or8g21	T	C	9: 38,905,902 (GRCm39)	I276M	possibly damaging	Het
Pabpc2	G	T	18: 39,907,163 (GRCm39)	V143L	probably damaging	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Patj	G	A	4: 98,511,885 (GRCm39)	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,103,877 (GRCm39)	K651*	probably null	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdha2	T	A	3: 140,916,960 (GRCm39)	K183*	probably null	Het
Pkd1l3	T	A	8: 110,375,038 (GRCm39)	C1504S	probably benign	Het
Plbd2	A	T	5: 120,625,574 (GRCm39)		probably null	Het
Poteg	G	A	8: 27,940,195 (GRCm39)	W121*	probably null	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Ptprf	A	G	4: 118,067,068 (GRCm39)	Y1883H	probably damaging	Het
Puf60	T	C	15: 75,943,323 (GRCm39)	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,704,420 (GRCm39)	I281M	probably benign	Het
Rufy1	T	C	11: 50,305,399 (GRCm39)	I305V	probably benign	Het
Shisa9	A	C	16: 12,085,426 (GRCm39)	Q329P	probably damaging	Het
Siglech	G	A	7: 55,418,332 (GRCm39)	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,144,169 (GRCm39)	Y303F	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,892,888 (GRCm39)	Y310C	probably damaging	Het
Top1	T	A	2: 160,557,643 (GRCm39)	L575Q	probably damaging	Het
Usp16	C	T	16: 87,276,020 (GRCm39)	R452*	probably null	Het
Utrn	A	G	10: 12,585,708 (GRCm39)		probably null	Het
Vps13b	G	A	15: 35,877,723 (GRCm39)	G2899E	probably benign	Het
Wipi2	T	A	5: 142,643,963 (GRCm39)	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,270,596 (GRCm39)	E228A	probably damaging	Het
Zfp26	T	C	9: 20,353,487 (GRCm39)	T101A	probably benign	Het
Zfp593	A	T	4: 133,972,394 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp948	G	A	17: 21,805,069 (GRCm39)	V20M	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Cebpz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Cebpz	APN	17	79,242,259 (GRCm39)	missense	probably damaging	1.00
IGL01558:Cebpz	APN	17	79,242,734 (GRCm39)	missense	probably damaging	1.00
IGL01724:Cebpz	APN	17	79,243,342 (GRCm39)	missense	probably benign	0.01
IGL01938:Cebpz	APN	17	79,242,390 (GRCm39)	nonsense	probably null
IGL02165:Cebpz	APN	17	79,229,598 (GRCm39)	missense	probably damaging	1.00
IGL02397:Cebpz	APN	17	79,230,690 (GRCm39)	missense	possibly damaging	0.63
IGL02455:Cebpz	APN	17	79,242,465 (GRCm39)	missense	probably benign	0.16
IGL02690:Cebpz	APN	17	79,229,986 (GRCm39)	missense	probably damaging	1.00
IGL02698:Cebpz	APN	17	79,243,003 (GRCm39)	missense	probably benign	0.03
IGL02755:Cebpz	APN	17	79,238,759 (GRCm39)	missense	probably damaging	1.00
IGL02827:Cebpz	APN	17	79,236,760 (GRCm39)	missense	probably damaging	1.00
IGL03149:Cebpz	APN	17	79,229,982 (GRCm39)	missense	probably benign	0.01
cedar_hill	UTSW	17	79,244,339 (GRCm39)	missense	possibly damaging	0.87
R0125:Cebpz	UTSW	17	79,227,317 (GRCm39)	missense	possibly damaging	0.95
R0138:Cebpz	UTSW	17	79,238,820 (GRCm39)	missense	probably benign
R0310:Cebpz	UTSW	17	79,233,553 (GRCm39)	missense	probably damaging	1.00
R0436:Cebpz	UTSW	17	79,243,079 (GRCm39)	missense	probably benign	0.00
R0589:Cebpz	UTSW	17	79,244,308 (GRCm39)	missense	probably damaging	1.00
R0828:Cebpz	UTSW	17	79,233,411 (GRCm39)	missense	probably benign	0.04
R1355:Cebpz	UTSW	17	79,242,753 (GRCm39)	missense	probably benign	0.01
R1367:Cebpz	UTSW	17	79,230,742 (GRCm39)	missense	probably benign
R1583:Cebpz	UTSW	17	79,242,181 (GRCm39)	missense	probably damaging	1.00
R1639:Cebpz	UTSW	17	79,242,035 (GRCm39)	missense	possibly damaging	0.49
R1885:Cebpz	UTSW	17	79,239,545 (GRCm39)	missense	probably benign	0.00
R1908:Cebpz	UTSW	17	79,242,336 (GRCm39)	nonsense	probably null
R1909:Cebpz	UTSW	17	79,242,336 (GRCm39)	nonsense	probably null
R2094:Cebpz	UTSW	17	79,242,983 (GRCm39)	missense	probably benign	0.03
R2314:Cebpz	UTSW	17	79,227,976 (GRCm39)	critical splice donor site	probably null
R2763:Cebpz	UTSW	17	79,243,358 (GRCm39)	missense	probably benign
R2874:Cebpz	UTSW	17	79,239,532 (GRCm39)	splice site	probably benign
R3807:Cebpz	UTSW	17	79,242,847 (GRCm39)	missense	probably damaging	1.00
R4012:Cebpz	UTSW	17	79,231,896 (GRCm39)	missense	probably damaging	0.98
R5344:Cebpz	UTSW	17	79,233,542 (GRCm39)	missense	possibly damaging	0.82
R5394:Cebpz	UTSW	17	79,229,634 (GRCm39)	missense	probably benign	0.34
R5711:Cebpz	UTSW	17	79,242,040 (GRCm39)	missense	probably damaging	1.00
R5902:Cebpz	UTSW	17	79,233,366 (GRCm39)	missense	probably benign	0.20
R6238:Cebpz	UTSW	17	79,244,339 (GRCm39)	missense	possibly damaging	0.87
R6257:Cebpz	UTSW	17	79,243,261 (GRCm39)	missense	probably benign	0.17
R6825:Cebpz	UTSW	17	79,227,392 (GRCm39)	missense	probably damaging	1.00
R7735:Cebpz	UTSW	17	79,233,342 (GRCm39)	critical splice donor site	probably null
R7994:Cebpz	UTSW	17	79,242,028 (GRCm39)	missense	probably damaging	0.99
R8045:Cebpz	UTSW	17	79,239,585 (GRCm39)	missense	probably damaging	0.96
R8210:Cebpz	UTSW	17	79,230,685 (GRCm39)	missense	probably benign	0.20
R8694:Cebpz	UTSW	17	79,234,334 (GRCm39)	missense	probably damaging	1.00
R8712:Cebpz	UTSW	17	79,229,081 (GRCm39)	missense	possibly damaging	0.81
R8774:Cebpz	UTSW	17	79,229,073 (GRCm39)	missense	probably benign	0.09
R8774-TAIL:Cebpz	UTSW	17	79,229,073 (GRCm39)	missense	probably benign	0.09
R9058:Cebpz	UTSW	17	79,243,227 (GRCm39)	missense	probably benign	0.00
R9514:Cebpz	UTSW	17	79,239,684 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGACGAATTCTGCTACCAAGTG -3'
(R):5'- TGAGCACGAAGTCAGCTTATTC -3'

Sequencing Primer
(F):5'- TCTGCTACCAAGTGTTTCAATTG -3'
(R):5'- CACGAAGTCAGCTTATTCAAGAG -3'

Posted On

2014-06-23