Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:Ebf3'

484719

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

044259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6109 (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 136807955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 363 (V363M)

Ref Sequence

ENSEMBL: ENSMUSP00000147829 (fasta)

Gene Model

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

AlphaFold

O08791

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033378
AA Change: V354M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: V354M

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

possibly damaging
Transcript: ENSMUST00000106118
AA Change: V354M

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: V354M

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

possibly damaging
Transcript: ENSMUST00000168203
AA Change: V354M

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: V354M

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

possibly damaging
Transcript: ENSMUST00000169486
AA Change: V354M

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: V354M

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: ENSMUST00000209578
AA Change: V147M

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209650

Predicted Effect

probably damaging
Transcript: ENSMUST00000210774
AA Change: V363M

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Acadm	A	G	3: 153,647,580 (GRCm39)	C20R	probably damaging	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Clpx	C	T	9: 65,207,234 (GRCm39)	T44I	probably benign	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Ctsw	T	C	19: 5,517,147 (GRCm39)	S62G	probably benign	Het
Dlk2	T	A	17: 46,612,623 (GRCm39)	Y109N	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
H2-D1	A	T	17: 35,482,913 (GRCm39)	I148F	probably damaging	Het
Hdac2	A	G	10: 36,862,385 (GRCm39)	D83G	probably null	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	probably damaging	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
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
R7578:Ebf3	UTSW	7	136,915,261 (GRCm39)	missense	probably damaging	1.00
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'- AAGCTGCCCATACCTGTTGG -3'
(R):5'- GGGTGTCTACTCCTTAAGGC -3'

Sequencing Primer
(F):5'- CCATACCTGTTGGCCTTGATATGG -3'
(R):5'- TGTCTACTCCTTAAGGCAGGGC -3'

Posted On

2017-08-16