Mutagenetix > Incidental Mutation

Incidental Mutation 'R9025:Ebf3'

686476

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

068854-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136795402-136916174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136914098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 131 (I131V)

Ref Sequence

ENSEMBL: ENSMUSP00000147829 (fasta)

Gene Model

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

AlphaFold

O08791

Predicted Effect

probably benign
Transcript: ENSMUST00000033378
AA Change: I131V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: I131V

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: I131V

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: I131V

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: I131V

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: I131V

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: I131V

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: I131V

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: ENSMUST00000210774
AA Change: I131V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

99% (80/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,534,545 (GRCm39)	N837K	possibly damaging	Het
Adam29	A	T	8: 56,325,196 (GRCm39)	C419*	probably null	Het
Adamts7	C	A	9: 90,067,848 (GRCm39)	S446*	probably null	Het
Ager	A	G	17: 34,819,594 (GRCm39)	R371G	probably damaging	Het
Apobr	T	A	7: 126,185,629 (GRCm39)	V380E	possibly damaging	Het
Arhgap26	T	C	18: 39,379,898 (GRCm39)	S105P		Het
Atrip	A	G	9: 108,902,906 (GRCm39)	F56S	probably damaging	Het
Bag2	T	C	1: 33,785,905 (GRCm39)	Y139C		Het
Bccip	C	T	7: 133,319,346 (GRCm39)	Q146*	probably null	Het
Btbd10	G	A	7: 112,951,031 (GRCm39)	R20W	possibly damaging	Het
Catsperd	T	A	17: 56,962,156 (GRCm39)	N443K	probably damaging	Het
Cdh26	G	A	2: 178,104,409 (GRCm39)	E265K	probably benign	Het
Cep76	T	C	18: 67,767,885 (GRCm39)	R216G	probably damaging	Het
Cgas	C	A	9: 78,349,787 (GRCm39)	V192L	probably benign	Het
Cnot1	T	A	8: 96,475,660 (GRCm39)	M1000L	probably benign	Het
Cyp1a1	A	G	9: 57,610,070 (GRCm39)	T495A	possibly damaging	Het
Cyp2w1	T	A	5: 139,342,470 (GRCm39)	M421K	probably benign	Het
Dlg5	T	C	14: 24,199,546 (GRCm39)	T1453A	probably benign	Het
Dnah5	G	T	15: 28,409,412 (GRCm39)	W3610L	probably damaging	Het
Dnah9	T	C	11: 65,896,651 (GRCm39)	D2391G	probably damaging	Het
Dnajc10	G	A	2: 80,179,637 (GRCm39)	G724R	probably damaging	Het
Dst	T	A	1: 34,227,585 (GRCm39)	I1726N	possibly damaging	Het
Dync2h1	A	T	9: 7,139,462 (GRCm39)	L1391*	probably null	Het
Dzank1	T	C	2: 144,318,012 (GRCm39)	S718G	probably benign	Het
E230025N22Rik	T	C	18: 36,819,890 (GRCm39)	D300G	probably damaging	Het
Eif3g	T	C	9: 20,807,426 (GRCm39)	I131V	probably benign	Het
Eppk1	T	A	15: 75,990,503 (GRCm39)	Q2126L	possibly damaging	Het
Fam83h	T	C	15: 75,874,182 (GRCm39)	R1052G	probably benign	Het
Fry	A	T	5: 150,219,273 (GRCm39)		probably benign	Het
Ggt6	C	T	11: 72,328,123 (GRCm39)	H208Y	possibly damaging	Het
Gm15821	T	A	17: 34,433,235 (GRCm39)	E28V	unknown	Het
Gprin2	T	C	14: 33,916,957 (GRCm39)	Q271R	probably damaging	Het
Gsdmd	T	C	15: 75,739,053 (GRCm39)	F477L	probably benign	Het
Hes7	T	C	11: 69,013,782 (GRCm39)	S214P	probably benign	Het
Hmcn2	A	G	2: 31,347,967 (GRCm39)	H4871R	possibly damaging	Het
Il15ra	G	A	2: 11,723,233 (GRCm39)	V86I	possibly damaging	Het
Il17rb	C	A	14: 29,724,857 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnab2	T	C	4: 152,491,635 (GRCm39)	Y63C	probably damaging	Het
Kctd17	A	T	15: 78,314,282 (GRCm39)	Y84F	probably damaging	Het
Lama1	T	A	17: 68,119,491 (GRCm39)	V2656E		Het
Lama2	T	C	10: 26,860,367 (GRCm39)	N3040S	probably benign	Het
Ldha	C	T	7: 46,500,433 (GRCm39)	R173C	unknown	Het
Lig1	A	G	7: 13,037,746 (GRCm39)	I665M	probably damaging	Het
Lipe	G	A	7: 25,083,923 (GRCm39)	A412V	probably damaging	Het
Lrrc63	T	C	14: 75,322,284 (GRCm39)	T607A	probably benign	Het
Majin	G	A	19: 6,263,427 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,758,175 (GRCm39)	L335P	probably benign	Het
Map3k9	A	G	12: 81,819,507 (GRCm39)	L249P	probably damaging	Het
Muc5b	G	T	7: 141,426,209 (GRCm39)	D4769Y	probably damaging	Het
Myh9	T	C	15: 77,653,192 (GRCm39)	T1382A	probably benign	Het
Nedd4l	T	A	18: 65,311,995 (GRCm39)	D407E	probably damaging	Het
Ngp	A	G	9: 110,251,451 (GRCm39)	I160V	possibly damaging	Het
Nmrk1	A	G	19: 18,617,156 (GRCm39)		probably benign	Het
Nnmt	C	A	9: 48,503,461 (GRCm39)	K188N	probably damaging	Het
Nup153	T	A	13: 46,837,709 (GRCm39)	Q1171L	probably benign	Het
Oplah	T	A	15: 76,187,417 (GRCm39)	E556V	probably benign	Het
Or9g3	T	G	2: 85,589,879 (GRCm39)	L280F	possibly damaging	Het
Otog	A	G	7: 45,937,520 (GRCm39)	D1743G	probably benign	Het
Otogl	T	C	10: 107,613,432 (GRCm39)	Y2011C	probably damaging	Het
Pbx4	C	T	8: 70,317,097 (GRCm39)	P118L	probably benign	Het
Plekha6	T	A	1: 133,212,999 (GRCm39)	S757T	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Polr3a	C	T	14: 24,519,479 (GRCm39)	S643N	probably damaging	Het
Pwp1	T	A	10: 85,718,745 (GRCm39)	L304Q	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,644,736 (GRCm39)	F350L	probably benign	Het
Safb2	T	C	17: 56,873,614 (GRCm39)	E683G	probably damaging	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Serpina3k	A	G	12: 104,307,230 (GRCm39)	E154G	probably damaging	Het
Sgsm3	T	A	15: 80,892,182 (GRCm39)	V250D	probably damaging	Het
Slit1	T	A	19: 41,612,968 (GRCm39)	I851F	probably benign	Het
Spag4	G	A	2: 155,910,424 (GRCm39)	G350E	probably damaging	Het
Sult2a7	A	T	7: 14,225,755 (GRCm39)	L77Q	probably damaging	Het
Tbc1d2	T	A	4: 46,607,062 (GRCm39)	T783S	probably damaging	Het
Thoc6	T	C	17: 23,888,862 (GRCm39)	E182G		Het
Tmem132a	A	T	19: 10,837,525 (GRCm39)	I595N	probably damaging	Het
Trim69	A	G	2: 122,003,771 (GRCm39)	N240S	probably benign	Het
Ush1c	A	T	7: 45,846,614 (GRCm39)		probably benign	Het
Wnk4	T	G	11: 101,153,641 (GRCm39)	Y234*	probably null	Het
Zfp943	A	G	17: 22,211,321 (GRCm39)	N136D	possibly damaging	Het
Znhit2	G	A	19: 6,111,669 (GRCm39)	R138H	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
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
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'- AGCAACCGGTCCATTTATTCC -3'
(R):5'- TAGGCAGACTTCTTACACCTTC -3'

Sequencing Primer
(F):5'- GATCCATTTGTCAGTCTGCT -3'
(R):5'- GACTTCTTACACCTTCATATGGGAAC -3'

Posted On

2021-10-11