Mutagenetix > Incidental Mutation

Incidental Mutation 'R7578:Ebf3'

586584

Institutional Source

Beutler Lab

Gene Symbol

Ebf3

Ensembl Gene

ENSMUSG00000010476

Gene Name

early B cell factor 3

Synonyms

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

MMRRC Submission

045663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7578 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136795402-136916174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136915261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 93 (V93M)

Ref Sequence

ENSEMBL: ENSMUSP00000147829 (fasta)

Gene Model

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

AlphaFold

O08791

Predicted Effect

probably damaging
Transcript: ENSMUST00000033378
AA Change: V93M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: V93M

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 damaging
Transcript: ENSMUST00000106118
AA Change: V93M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: V93M

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 damaging
Transcript: ENSMUST00000168203
AA Change: V93M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: V93M

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 damaging
Transcript: ENSMUST00000169486
AA Change: V93M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: V93M

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 damaging
Transcript: ENSMUST00000210774
AA Change: V93M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5645

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,120,343 (GRCm39)	V165E	probably damaging	Het
1700025G04Rik	T	G	1: 151,796,841 (GRCm39)	T75P	probably benign	Het
4930516K23Rik	T	C	7: 103,708,104 (GRCm39)	E235G	probably benign	Het
Adam15	A	G	3: 89,251,499 (GRCm39)	C449R	probably damaging	Het
Adam24	T	C	8: 41,133,294 (GRCm39)	V254A	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Aldh1a1	A	C	19: 20,595,366 (GRCm39)	R98S	probably damaging	Het
Alg9	A	G	9: 50,700,835 (GRCm39)	I202V	probably benign	Het
Anks1b	G	A	10: 89,885,789 (GRCm39)	E162K	probably damaging	Het
Atp6v1b2	A	G	8: 69,556,128 (GRCm39)	T268A	probably benign	Het
Atxn1	C	T	13: 45,720,834 (GRCm39)	V354I	probably benign	Het
B3galt1	A	G	2: 67,948,896 (GRCm39)	T204A	probably damaging	Het
Catsperb	T	A	12: 101,554,544 (GRCm39)	I746K	probably benign	Het
Cdh23	G	A	10: 60,243,186 (GRCm39)	T1063M	probably benign	Het
Cherp	G	A	8: 73,218,102 (GRCm39)	R543C		Het
Cldn20	A	G	17: 3,583,274 (GRCm39)	D149G	probably damaging	Het
Clk2	A	G	3: 89,083,807 (GRCm39)	Q474R	probably benign	Het
Cp	A	G	3: 20,043,262 (GRCm39)	T1017A	possibly damaging	Het
Cyp2c39	T	C	19: 39,499,400 (GRCm39)	L29P	probably damaging	Het
Eef1akmt1	T	A	14: 57,787,328 (GRCm39)	M183L	probably damaging	Het
Fhip1a	G	T	3: 85,573,205 (GRCm39)	L915I	probably damaging	Het
Filip1l	A	G	16: 57,333,645 (GRCm39)	E146G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,293 (GRCm39)	S283G	possibly damaging	Het
Fras1	A	T	5: 96,832,296 (GRCm39)	Y1543F	probably damaging	Het
Garin2	T	C	12: 78,762,275 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gjd3	A	G	11: 98,873,301 (GRCm39)	V181A	probably damaging	Het
Gm49368	T	A	7: 127,711,430 (GRCm39)	C711*	probably null	Het
Gtf3c2	A	G	5: 31,330,341 (GRCm39)	S210P	probably benign	Het
Herc2	A	G	7: 55,784,548 (GRCm39)	Y1404C	probably benign	Het
Il22ra2	T	A	10: 19,507,372 (GRCm39)	D128E	probably benign	Het
Itgav	T	A	2: 83,578,219 (GRCm39)	D113E	probably benign	Het
Kcnd3	A	G	3: 105,366,933 (GRCm39)	M268V	probably benign	Het
Kirrel3	G	T	9: 34,850,408 (GRCm39)	G19V	probably damaging	Het
Klf17	T	G	4: 117,617,916 (GRCm39)	Y147S	possibly damaging	Het
Leng1	C	T	7: 3,668,382 (GRCm39)	R22H	probably damaging	Het
Lysmd4	T	A	7: 66,876,037 (GRCm39)	Y233*	probably null	Het
Lyzl6	A	G	11: 103,525,832 (GRCm39)	V96A	probably benign	Het
Mki67	T	C	7: 135,302,644 (GRCm39)	T797A	possibly damaging	Het
Nuf2	G	T	1: 169,332,097 (GRCm39)	H399Q	probably benign	Het
Nuggc	T	C	14: 65,885,623 (GRCm39)	V766A	probably damaging	Het
Oas1c	A	T	5: 120,940,244 (GRCm39)	D307E	probably damaging	Het
Odad2	A	T	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Or10aa3	T	A	1: 173,878,266 (GRCm39)	M109K	possibly damaging	Het
Or6c5b	T	C	10: 129,245,544 (GRCm39)	I103T	probably damaging	Het
P4ha3	T	C	7: 99,943,121 (GRCm39)	Y169H	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,417,585 (GRCm39)	D2522G	probably damaging	Het
Prickle2	T	C	6: 92,388,271 (GRCm39)	D433G	probably benign	Het
Ptcd3	A	G	6: 71,885,691 (GRCm39)	S12P	probably benign	Het
Ptpn23	T	A	9: 110,216,676 (GRCm39)	Q1060L	probably benign	Het
Rai14	G	T	15: 10,574,914 (GRCm39)	N710K	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Satb2	A	G	1: 56,910,943 (GRCm39)	V234A	probably benign	Het
Scg2	T	C	1: 79,414,612 (GRCm39)	Q37R	probably damaging	Het
Slc35e3	A	T	10: 117,576,484 (GRCm39)	S230T	probably damaging	Het
Slc39a2	T	C	14: 52,132,873 (GRCm39)	V272A	probably damaging	Het
Smg7	T	A	1: 152,721,181 (GRCm39)	Y677F	probably damaging	Het
Spinkl	A	G	18: 44,301,213 (GRCm39)	Y42H	probably damaging	Het
Srsf6	T	C	2: 162,774,782 (GRCm39)	F102L	probably benign	Het
Sstr3	T	C	15: 78,424,717 (GRCm39)	E10G	probably benign	Het
Tekt3	A	T	11: 62,985,486 (GRCm39)	I431F	probably damaging	Het
Trio	C	T	15: 27,855,025 (GRCm39)	R778H	possibly damaging	Het
Ush2a	T	A	1: 188,282,110 (GRCm39)	V1875D	probably damaging	Het
Vmn2r29	A	C	7: 7,234,441 (GRCm39)	I815S	probably damaging	Het
Vmn2r78	A	T	7: 86,603,552 (GRCm39)	K577*	probably null	Het
Vps26c	A	C	16: 94,299,928 (GRCm39)	N275K	probably damaging	Het
Yes1	G	A	5: 32,802,430 (GRCm39)	R115Q	probably benign	Het

Other mutations in Ebf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Ebf3	APN	7	136,827,625 (GRCm39)	splice site	probably benign
IGL01938:Ebf3	APN	7	136,911,047 (GRCm39)	missense	probably damaging	1.00
IGL02076:Ebf3	APN	7	136,833,030 (GRCm39)	missense	possibly damaging	0.61
IGL02260:Ebf3	APN	7	136,807,919 (GRCm39)	missense	probably damaging	1.00
IGL02303:Ebf3	APN	7	136,911,094 (GRCm39)	missense	probably benign	0.01
IGL02828:Ebf3	APN	7	136,909,247 (GRCm39)	missense	probably damaging	0.98
IGL03211:Ebf3	APN	7	136,833,033 (GRCm39)	missense	probably benign	0.21
R0885:Ebf3	UTSW	7	136,827,613 (GRCm39)	missense	probably benign	0.10
R0962:Ebf3	UTSW	7	136,826,932 (GRCm39)	missense	probably damaging	0.99
R1166:Ebf3	UTSW	7	136,914,896 (GRCm39)	splice site	probably benign
R1255:Ebf3	UTSW	7	136,826,941 (GRCm39)	missense	probably benign	0.35
R1804:Ebf3	UTSW	7	136,802,250 (GRCm39)	missense	possibly damaging	0.89
R4298:Ebf3	UTSW	7	136,826,958 (GRCm39)	missense	possibly damaging	0.95
R4393:Ebf3	UTSW	7	136,826,886 (GRCm39)	missense	probably damaging	0.99
R5061:Ebf3	UTSW	7	136,915,288 (GRCm39)	missense	possibly damaging	0.57
R5880:Ebf3	UTSW	7	136,800,367 (GRCm39)	missense	probably benign	0.04
R6024:Ebf3	UTSW	7	136,802,264 (GRCm39)	missense	probably damaging	1.00
R6109:Ebf3	UTSW	7	136,807,955 (GRCm39)	missense	probably damaging	1.00
R6634:Ebf3	UTSW	7	136,802,889 (GRCm39)	missense	probably damaging	0.99
R6958:Ebf3	UTSW	7	136,800,994 (GRCm39)	missense	possibly damaging	0.66
R6997:Ebf3	UTSW	7	136,826,994 (GRCm39)	missense	probably damaging	0.97
R7771:Ebf3	UTSW	7	136,911,092 (GRCm39)	missense	probably damaging	1.00
R8133:Ebf3	UTSW	7	136,914,872 (GRCm39)	missense	probably damaging	1.00
R8185:Ebf3	UTSW	7	136,827,607 (GRCm39)	missense	possibly damaging	0.87
R8356:Ebf3	UTSW	7	136,800,916 (GRCm39)	missense	probably benign	0.41
R8456:Ebf3	UTSW	7	136,800,916 (GRCm39)	missense	probably benign	0.41
R8520:Ebf3	UTSW	7	136,802,853 (GRCm39)	critical splice donor site	probably null
R9025:Ebf3	UTSW	7	136,914,098 (GRCm39)	missense	possibly damaging	0.94
R9086:Ebf3	UTSW	7	136,800,994 (GRCm39)	missense	possibly damaging	0.66
R9679:Ebf3	UTSW	7	136,832,964 (GRCm39)	missense	possibly damaging	0.67
RF022:Ebf3	UTSW	7	136,915,671 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAGTTGTTCGGCCCTTG -3'
(R):5'- TCAGGAGAATATTCCGCGC -3'

Sequencing Primer
(F):5'- ACTCGGACCCCATGCGCGGGCACCAA -3'
(R):5'- AGAATATTCCGCGCGGGGG -3'

Posted On

2019-10-24