Mutagenetix > Incidental Mutations

Incidental Mutation 'R0125:Cebpz'

21334

Institutional Source

Beutler Lab

Gene Symbol

Cebpz

Ensembl Gene

ENSMUSG00000024081

Gene Name

CCAAT/enhancer binding protein zeta

Synonyms

Cebpa-rs1, Cbf, CBF2

MMRRC Submission

038410-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

78919006-78937070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78919888 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 1051 (R1051M)

Ref Sequence

ENSEMBL: ENSMUSP00000024885 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024885
AA Change: R1051M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024885
Gene: ENSMUSG00000024081
AA Change: R1051M

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

0.1577

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,156,647		probably benign	Het
Adam23	T	C	1: 63,534,356	L261P	probably benign	Het
Adgra3	G	A	5: 50,001,852		probably benign	Het
Agtr1b	A	G	3: 20,315,540	F301L	probably benign	Het
Ahnak2	G	A	12: 112,785,156	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,727,066		probably benign	Het
Apoh	A	T	11: 108,412,073	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,343,139	V24A	probably benign	Het
Atp6v0a1	A	G	11: 101,038,851		probably null	Het
Axl	A	T	7: 25,786,943	M112K	probably benign	Het
Bnc2	A	C	4: 84,292,932	I425S	probably damaging	Het
Cdc42bpa	C	T	1: 179,961,198	T30M	probably damaging	Het
Ces1d	A	C	8: 93,175,182		probably benign	Het
Chd1l	T	C	3: 97,587,149	N405S	probably benign	Het
Chodl	G	T	16: 78,941,423	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,238,400		probably benign	Het
Crebbp	A	G	16: 4,117,241		probably benign	Het
Crybb3	T	C	5: 113,079,809	T49A	possibly damaging	Het
Ctps	A	G	4: 120,561,525		probably benign	Het
Cyp26b1	A	G	6: 84,574,515	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,389,221	V483G	probably benign	Het
Dnah14	A	T	1: 181,752,063	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,178,039	D756A	unknown	Het
Dst	T	C	1: 34,270,903	S1553P	probably damaging	Het
Elp4	A	G	2: 105,792,214		probably null	Het
Eml6	G	T	11: 29,882,088	T194K	probably benign	Het
Evi5	A	G	5: 107,795,772	I569T	probably benign	Het
Fam129b	T	A	2: 32,923,821	V682D	probably benign	Het
Fancm	C	T	12: 65,121,956	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,445,545	D791G	probably benign	Het
Frem1	A	G	4: 83,011,951	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,381,418	Y196C	probably benign	Het
Hcls1	A	G	16: 36,962,163	D398G	probably benign	Het
Hydin	T	C	8: 110,462,531	V1189A	probably benign	Het
Itgb3	G	A	11: 104,643,963	D549N	probably damaging	Het
Itpr2	A	G	6: 146,240,453	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,999,051	T161A	probably benign	Het
Kntc1	G	A	5: 123,765,057		probably benign	Het
Map3k19	A	T	1: 127,823,100	F838Y	probably benign	Het
Map6	T	A	7: 99,335,980		probably null	Het
Mcrs1	A	G	15: 99,244,727		probably benign	Het
Mdn1	A	T	4: 32,729,956	Y2766F	probably damaging	Het
Med23	C	T	10: 24,900,788	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,594,582	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,951,257	L442Q	probably damaging	Het
Myo19	T	C	11: 84,888,175		probably benign	Het
Nedd1	A	C	10: 92,691,929	S468A	possibly damaging	Het
Nlrp4d	A	C	7: 10,382,389	V152G	probably damaging	Het
Nxf1	T	A	19: 8,762,806	D112E	probably benign	Het
Oas1h	A	T	5: 120,862,563	K79*	probably null	Het
Olfr494	A	G	7: 108,368,369	Y293C	probably damaging	Het
Olfr888	A	G	9: 38,109,519	T278A	probably benign	Het
Olfr904	T	A	9: 38,464,461	L140*	probably null	Het
Omg	T	A	11: 79,502,853	I60F	possibly damaging	Het
Pck1	G	A	2: 173,156,081	W314*	probably null	Het
Pla2g15	T	C	8: 106,163,124	Y343H	probably benign	Het
Plcb3	T	C	19: 6,958,908	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,351,042		probably null	Het
Pprc1	A	G	19: 46,069,512		probably benign	Het
Prkdc	A	T	16: 15,699,007	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,625,875	Y172*	probably null	Het
Ros1	G	T	10: 52,125,789	A1079D	probably benign	Het
Sap30	T	C	8: 57,485,511	E147G	probably null	Het
Sell	T	C	1: 164,072,105		probably benign	Het
Senp1	A	T	15: 98,048,231	D544E	probably damaging	Het
Shpk	G	A	11: 73,214,222		probably benign	Het
Slc35b1	A	T	11: 95,386,527	T74S	probably benign	Het
Slc6a3	T	A	13: 73,569,979		probably benign	Het
Slf1	T	C	13: 77,043,745	N990S	probably benign	Het
Smgc	A	G	15: 91,854,543		probably benign	Het
Snx19	T	A	9: 30,440,219	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,352,978	P39S	unknown	Het
Sstr2	T	A	11: 113,624,477	M74K	probably damaging	Het
St5	T	C	7: 109,556,338	K402E	probably benign	Het
Svep1	T	C	4: 58,099,937		probably benign	Het
Tas2r143	A	G	6: 42,400,955	I240V	probably benign	Het
Tbrg1	T	C	9: 37,652,641	I233V	probably benign	Het
Tecpr1	G	T	5: 144,197,899	D1055E	probably damaging	Het
Thap2	A	T	10: 115,376,372		probably null	Het
Tinagl1	A	G	4: 130,166,308	Y388H	probably damaging	Het
Ttn	T	A	2: 76,755,552	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 86,926,102	W133R	probably benign	Het
Usp24	C	T	4: 106,397,299	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,250,882	S395P	possibly damaging	Het
Vav1	T	A	17: 57,299,847	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,029,807	Y734C	probably damaging	Het
Vps8	T	A	16: 21,470,154	V421E	probably benign	Het
Wisp1	T	C	15: 66,917,345	S227P	possibly damaging	Het
Xkr7	G	T	2: 153,032,426	A138S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACAGTGACATCATGCACTTAGCC -3'
(R):5'- TCAACTATCCAGTAGAGGAGAGCAGC -3'

Sequencing Primer
(F):5'- TGCACTTAGCCTAAGCATGG -3'
(R):5'- TTACGGTCAGGGAGCGTC -3'

Posted On

2013-04-11