Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Cebpb'

529369

Institutional Source

Beutler Lab

Gene Symbol

Cebpb

Ensembl Gene

ENSMUSG00000056501

Gene Name

CCAAT/enhancer binding protein beta

Synonyms

NF-M, CRP2, Nfil6, IL-6DBP, C/EBP BETA, LIP, NF-IL6, LAP, C/EBPbeta

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R6143 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

167530835-167532338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 167531220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 93 (D93E)

Ref Sequence

ENSEMBL: ENSMUSP00000069850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070642]

AlphaFold

P28033

PDB Structure

TRANSCRIPTION FACTOR ATF4-C/EBP BETA BZIP HETERODIMER [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000070642
AA Change: D93E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000069850
Gene: ENSMUSG00000056501
AA Change: D93E

Domain	Start	End	E-Value	Type
low complexity region	38	53	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	114	136	N/A	INTRINSIC
low complexity region	169	216	N/A	INTRINSIC
BRLZ	220	284	1.63e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148262

Meta Mutation Damage Score

0.0579

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high neonatal hypoglycemia and mortality, reduced epididymal fat pad weight, susceptibility to Listeria monocytogenes, female sterility, impaired mammary development, and resistance to skin carcinogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Drc3	G	A	11: 60,261,406 (GRCm39)	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Nvl	T	G	1: 180,962,560 (GRCm39)	T137P	probably benign	Het
Or5p59	A	G	7: 107,703,335 (GRCm39)	D273G	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pdilt	T	A	7: 119,094,265 (GRCm39)	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Pten	A	G	19: 32,777,485 (GRCm39)	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Srsf1	G	A	11: 87,940,425 (GRCm39)		probably benign	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly damaging	Het

Other mutations in Cebpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2159:Cebpb	UTSW	2	167,531,173 (GRCm39)	missense	probably benign	0.28
R4934:Cebpb	UTSW	2	167,531,005 (GRCm39)	missense	probably benign	0.39
R7731:Cebpb	UTSW	2	167,531,126 (GRCm39)	missense	probably damaging	1.00
R9785:Cebpb	UTSW	2	167,531,663 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCTACTACGAGCCCGAC -3'
(R):5'- TGTACTCGTCGCTCAGCTTG -3'

Sequencing Primer
(F):5'- TACGAGCCCGACTGCCTG -3'
(R):5'- ACGACGTGGACAGGCTG -3'

Posted On

2018-07-31