Mutagenetix > Incidental Mutations

Incidental Mutation 'R8520:Ebf3'

658593

Institutional Source

Beutler Lab

Gene Symbol

Ebf3

Ensembl Gene

ENSMUSG00000010476

Gene Name

early B cell factor 3

Synonyms

Olf-1/EBF-like 2, O/E-2, 3110018A08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137193673-137314445 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 137201124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033378] [ENSMUST00000106118] [ENSMUST00000168203] [ENSMUST00000169486] [ENSMUST00000209578] [ENSMUST00000210774]

AlphaFold

O08791

Predicted Effect

probably null
Transcript: ENSMUST00000033378

SMART Domains

Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476

Domain	Start	End	E-Value	Type
low complexity region	94	106	N/A	INTRINSIC
IPT	253	337	2.09e-7	SMART
HLH	338	387	1.43e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106118

SMART Domains

Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476

Domain	Start	End	E-Value	Type
Pfam:COE1_DBD	17	247	2.6e-151	PFAM
IPT	262	346	2.09e-7	SMART
HLH	347	396	1.43e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168203

SMART Domains

Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476

Domain	Start	End	E-Value	Type
low complexity region	94	106	N/A	INTRINSIC
IPT	253	337	2.09e-7	SMART
HLH	338	387	1.43e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169486

SMART Domains

Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476

Domain	Start	End	E-Value	Type
low complexity region	94	106	N/A	INTRINSIC
IPT	253	337	2.09e-7	SMART
HLH	338	387	1.43e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000209578

Predicted Effect

probably null
Transcript: ENSMUST00000210774

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutant mice die perinatally and exhibit impaired olfactory neuron projection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160	V191A	probably benign	Het
Ankrd52	T	C	10: 128,389,490	L911P	probably damaging	Het
C5ar1	A	G	7: 16,248,151	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520		probably null	Het
Dlec1	T	C	9: 119,112,209	S276P	probably benign	Het
Dnah14	T	A	1: 181,653,638	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,579,451	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470	G208*	probably null	Het
Fbn2	A	T	18: 58,038,198		probably null	Het
Fbxo27	A	G	7: 28,693,342	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734		probably null	Het
Nanog	A	T	6: 122,713,516	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,174,755	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,170	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,814,840	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,549,862	M9T	probably benign	Het
Sord	G	A	2: 122,256,942	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172		probably null	Het
Topbp1	T	A	9: 103,308,977		probably null	Het
Tst	T	C	15: 78,405,253	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211	Y61F	probably benign	Het

Other mutations in Ebf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Ebf3	APN	7	137225896	splice site	probably benign
IGL01938:Ebf3	APN	7	137309318	missense	probably damaging	1.00
IGL02076:Ebf3	APN	7	137231301	missense	possibly damaging	0.61
IGL02260:Ebf3	APN	7	137206190	missense	probably damaging	1.00
IGL02303:Ebf3	APN	7	137309365	missense	probably benign	0.01
IGL02828:Ebf3	APN	7	137307518	missense	probably damaging	0.98
IGL03211:Ebf3	APN	7	137231304	missense	probably benign	0.21
R0885:Ebf3	UTSW	7	137225884	missense	probably benign	0.10
R0962:Ebf3	UTSW	7	137225203	missense	probably damaging	0.99
R1166:Ebf3	UTSW	7	137313167	splice site	probably benign
R1255:Ebf3	UTSW	7	137225212	missense	probably benign	0.35
R1804:Ebf3	UTSW	7	137200521	missense	possibly damaging	0.89
R4298:Ebf3	UTSW	7	137225229	missense	possibly damaging	0.95
R4393:Ebf3	UTSW	7	137225157	missense	probably damaging	0.99
R5061:Ebf3	UTSW	7	137313559	missense	possibly damaging	0.57
R5880:Ebf3	UTSW	7	137198638	missense	probably benign	0.04
R6024:Ebf3	UTSW	7	137200535	missense	probably damaging	1.00
R6109:Ebf3	UTSW	7	137206226	missense	probably damaging	1.00
R6634:Ebf3	UTSW	7	137201160	missense	probably damaging	0.99
R6958:Ebf3	UTSW	7	137199265	missense	possibly damaging	0.66
R6997:Ebf3	UTSW	7	137225265	missense	probably damaging	0.97
R7578:Ebf3	UTSW	7	137313532	missense	probably damaging	1.00
R7771:Ebf3	UTSW	7	137309363	missense	probably damaging	1.00
R8133:Ebf3	UTSW	7	137313143	missense	probably damaging	1.00
R8185:Ebf3	UTSW	7	137225878	missense	possibly damaging	0.87
R8356:Ebf3	UTSW	7	137199187	missense	probably benign	0.41
R8456:Ebf3	UTSW	7	137199187	missense	probably benign	0.41
R9025:Ebf3	UTSW	7	137312369	missense	possibly damaging	0.94
R9086:Ebf3	UTSW	7	137199265	missense	possibly damaging	0.66
RF022:Ebf3	UTSW	7	137313942	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACCTGCTACTGAGTACTATGG -3'
(R):5'- GCCTTTCAGAGAGTTCATGGC -3'

Sequencing Primer
(F):5'- CTGCTACTGAGTACTATGGAACTTC -3'
(R):5'- CTTTCAGAGAGTTCATGGCAGAGG -3'

Posted On

2021-01-18