Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Ebf3'

541580

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

045009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136795402-136916174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136800994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 455 (T455A)

Ref Sequence

ENSEMBL: ENSMUSP00000033378 (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: T455A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: T455A

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 benign
Transcript: ENSMUST00000106118
AA Change: T455A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: T455A

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 benign
Transcript: ENSMUST00000168203
AA Change: T455A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: T455A

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 benign
Transcript: ENSMUST00000169486
AA Change: T455A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: T455A

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 benign
Transcript: ENSMUST00000209578
AA Change: T248A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210774
AA Change: T464A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,649,558 (GRCm39)	D159G	probably benign	Het
Ahnak	A	G	19: 8,992,579 (GRCm39)	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,784,604 (GRCm39)	A144V	probably damaging	Het
Bhmt1b	G	A	18: 87,775,046 (GRCm39)	E190K	probably benign	Het
Ccdc14	T	C	16: 34,511,176 (GRCm39)	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,179,731 (GRCm39)	V243I	probably benign	Het
Cdk12	A	T	11: 98,132,525 (GRCm39)	I985F	unknown	Het
Cfap65	T	C	1: 74,971,058 (GRCm39)	T87A	possibly damaging	Het
Cilp2	G	A	8: 70,335,190 (GRCm39)	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cpa6	C	T	1: 10,665,913 (GRCm39)	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,112,402 (GRCm39)	I115V	probably benign	Het
Dnah11	G	T	12: 117,897,544 (GRCm39)	P3562Q	probably damaging	Het
Dnah9	A	G	11: 65,967,167 (GRCm39)	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,571,067 (GRCm39)	Q69R	probably benign	Het
Eif2ak3	T	A	6: 70,869,667 (GRCm39)	C785S	probably benign	Het
Elk4	T	A	1: 131,945,570 (GRCm39)	F149L	probably damaging	Het
Fgf14	A	G	14: 124,914,009 (GRCm39)	W41R	probably benign	Het
Fmnl1	T	A	11: 103,062,140 (GRCm39)	M1K	probably null	Het
Foxk2	A	T	11: 121,190,563 (GRCm39)	Q568L	probably benign	Het
Fryl	T	G	5: 73,231,272 (GRCm39)	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,282,744 (GRCm39)	I75V	probably damaging	Het
Gm3233	T	A	10: 77,595,369 (GRCm39)		probably benign	Het
Gnb1	G	T	4: 155,627,651 (GRCm39)		probably null	Het
Gphn	G	T	12: 78,727,073 (GRCm39)	V662L	possibly damaging	Het
Il3	A	C	11: 54,157,937 (GRCm39)	V47G	probably benign	Het
Iqgap3	A	G	3: 88,020,673 (GRCm39)	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,216,698 (GRCm39)	S90P	unknown	Het
Lars1	C	T	18: 42,369,704 (GRCm39)	V394I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp10	A	G	14: 54,707,278 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Lzts2	G	T	19: 45,012,582 (GRCm39)		probably benign	Het
Msantd2	A	G	9: 37,434,753 (GRCm39)	E331G	probably damaging	Het
Myo15a	G	A	11: 60,394,451 (GRCm39)	G1218S	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nhp2	A	G	11: 51,513,934 (GRCm39)	T118A	probably benign	Het
Nup155	A	G	15: 8,176,638 (GRCm39)	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,237,566 (GRCm39)	C230S	probably damaging	Het
Or12d13	T	C	17: 37,647,308 (GRCm39)	I272V	probably benign	Het
Or51g2	A	G	7: 102,623,091 (GRCm39)	L36P	possibly damaging	Het
Or5w8	T	C	2: 87,688,295 (GRCm39)	Y259H	probably damaging	Het
Pfkfb4	A	T	9: 108,839,615 (GRCm39)	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,143,091 (GRCm39)	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,542,543 (GRCm39)	Y8*	probably null	Het
Pramel20	A	T	4: 143,297,829 (GRCm39)	D83V	probably damaging	Het
Ptprb	T	A	10: 116,113,153 (GRCm39)	N44K	probably benign	Het
Sds	G	A	5: 120,619,537 (GRCm39)	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,364,065 (GRCm39)	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442 (GRCm39)	A636T	probably benign	Het
Slc27a1	C	T	8: 72,038,083 (GRCm39)	A577V	possibly damaging	Het
Spata13	A	T	14: 60,989,300 (GRCm39)	T319S	possibly damaging	Het
Styxl2	T	A	1: 165,935,565 (GRCm39)	D211V	probably damaging	Het
Tdrd3	A	G	14: 87,694,532 (GRCm39)	D29G	probably damaging	Het
Tex15	A	T	8: 34,060,899 (GRCm39)	I110L	probably benign	Het
Treml2	A	G	17: 48,615,180 (GRCm39)	T222A	probably damaging	Het
Trpd52l3	A	T	19: 29,981,546 (GRCm39)	L100F	probably damaging	Het
Ttf2	C	T	3: 100,853,248 (GRCm39)	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,404,144 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,235,855 (GRCm39)	T648A	probably benign	Het
Zfp641	C	T	15: 98,190,832 (GRCm39)	V71I	possibly 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
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
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'- AAACAGACACTTACTGCCGTAG -3'
(R):5'- TCGAAGCATGCTTTGGCTG -3'

Sequencing Primer
(F):5'- CGTAGGGAGAGTTAGCGGAG -3'
(R):5'- TAGATTCTCGGGGAAACC -3'

Posted On

2018-11-28