Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Cebpz'

426086

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, CBF2, Cbf

MMRRC Submission

042966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79226435-79244495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79229634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 907 (D907N)

Ref Sequence

ENSEMBL: ENSMUSP00000024885 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024885
AA Change: D907N

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: D907N

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

0.0688

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,363 (GRCm39)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,356,713 (GRCm39)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,896,174 (GRCm39)	T341A	probably benign	Het
Adamts13	G	A	2: 26,876,570 (GRCm39)	V495I	probably benign	Het
Alms1	C	A	6: 85,600,070 (GRCm39)	T2101K	probably benign	Het
Als2	T	C	1: 59,214,105 (GRCm39)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,412,496 (GRCm39)	M275K	probably benign	Het
Arfip2	A	T	7: 105,286,183 (GRCm39)	Y161*	probably null	Het
Asap3	A	T	4: 135,968,570 (GRCm39)	E707D	probably benign	Het
Atm	C	T	9: 53,419,077 (GRCm39)		probably null	Het
Atp9b	A	T	18: 80,820,052 (GRCm39)	S577R	probably benign	Het
Bltp1	G	T	3: 36,971,817 (GRCm39)	V517F	probably damaging	Het
Camk1d	G	C	2: 5,308,177 (GRCm39)	D274E	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnst	T	A	1: 179,429,301 (GRCm39)		probably benign	Het
Cog2	G	T	8: 125,259,268 (GRCm39)	V196L	probably benign	Het
Col11a1	A	G	3: 113,987,833 (GRCm39)		probably null	Het
Cops6	T	A	5: 138,161,762 (GRCm39)		probably null	Het
Cspg4	A	G	9: 56,797,484 (GRCm39)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,759,683 (GRCm39)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,176,000 (GRCm39)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,152,328 (GRCm39)	D25E	probably damaging	Het
Ddx10	A	T	9: 53,145,157 (GRCm39)	Y273*	probably null	Het
Dhx58	T	C	11: 100,589,034 (GRCm39)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm39)	W2129*	probably null	Het
Egr4	A	T	6: 85,489,442 (GRCm39)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 137,830,709 (GRCm39)		probably null	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,844,470 (GRCm39)	M224L	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,682,075 (GRCm39)	K91E	probably benign	Het
Hecw1	A	T	13: 14,497,174 (GRCm39)	V278E	probably damaging	Het
Hydin	A	G	8: 111,266,474 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,875,641 (GRCm39)	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,537,039 (GRCm39)	T182S	probably benign	Het
Kplce	T	C	3: 92,776,005 (GRCm39)	E226G	probably damaging	Het
Lats2	T	G	14: 57,928,810 (GRCm39)	S1022R	probably benign	Het
Lef1	C	T	3: 130,988,308 (GRCm39)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,513,471 (GRCm39)	I79L	possibly damaging	Het
Macroh2a2	G	A	10: 61,587,466 (GRCm39)	T156M	possibly damaging	Het
Man2b2	T	G	5: 36,971,862 (GRCm39)	Q618P	probably benign	Het
Mei1	T	C	15: 81,976,957 (GRCm39)	V180A	possibly damaging	Het
Mmp15	A	T	8: 96,093,032 (GRCm39)	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mmut	T	A	17: 41,258,075 (GRCm39)	S414T	probably benign	Het
Myo18a	T	C	11: 77,744,176 (GRCm39)	M1846T	probably benign	Het
Neo1	A	T	9: 58,897,517 (GRCm39)	N146K	probably benign	Het
Nos3	A	G	5: 24,588,888 (GRCm39)	T1174A	probably benign	Het
Or10d4b	A	T	9: 39,534,430 (GRCm39)	T4S	probably benign	Het
Or10x1	T	C	1: 174,196,836 (GRCm39)	Y118H	probably damaging	Het
Or4c125	A	T	2: 89,169,806 (GRCm39)	I280N	probably damaging	Het
Or51f1	A	T	7: 102,505,686 (GRCm39)	S268T	probably damaging	Het
Pax8	A	T	2: 24,332,922 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,611,658 (GRCm39)	C532Y	probably damaging	Het
Pigq	T	C	17: 26,150,446 (GRCm39)	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,665,808 (GRCm39)	V43A	probably benign	Het
Pik3cb	T	C	9: 98,970,716 (GRCm39)	N325S	probably benign	Het
Pot1b	T	C	17: 56,007,063 (GRCm39)	K18R	probably benign	Het
Ppp1r42	A	T	1: 10,069,630 (GRCm39)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm39)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,728,898 (GRCm39)	K167N	probably benign	Het
Rnf123	T	C	9: 107,947,930 (GRCm39)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,634,411 (GRCm39)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,109,181 (GRCm39)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,317,339 (GRCm39)	N742D	probably benign	Het
Shank1	G	A	7: 44,002,075 (GRCm39)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,465,933 (GRCm39)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,199,758 (GRCm39)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,455,494 (GRCm39)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,345,623 (GRCm39)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm39)	D189E	probably benign	Het
Sspo	A	G	6: 48,472,194 (GRCm39)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,817,806 (GRCm39)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,757,036 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,892,233 (GRCm39)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,265,210 (GRCm39)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,608,777 (GRCm39)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,149,995 (GRCm39)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,595,862 (GRCm39)	V274A	probably benign	Het
Wdr17	A	G	8: 55,092,524 (GRCm39)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,417,283 (GRCm39)	R156L	probably damaging	Het
Zan	T	C	5: 137,433,896 (GRCm39)	D2279G	unknown	Het
Zan	T	C	5: 137,462,336 (GRCm39)	T948A	unknown	Het
Zfp758	T	C	17: 22,591,049 (GRCm39)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,822,020 (GRCm39)	E278G	probably benign	Het
Zfp994	T	A	17: 22,419,506 (GRCm39)	H481L	probably damaging	Het
Zswim9	G	A	7: 12,994,909 (GRCm39)	R416C	probably damaging	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
R1818:Cebpz	UTSW	17	79,242,805 (GRCm39)	missense	probably damaging	1.00
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
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'- GCTCAACTGCAACTGGGTAG -3'
(R):5'- TAGAATGCTTGTCTCCTGAGC -3'

Sequencing Primer
(F):5'- CTCAACTGCAACTGGGTAGAAAAAGC -3'
(R):5'- GTCTCCTGAGCACACTTTAGAAG -3'

Posted On

2016-08-04