Mutagenetix > Incidental Mutation

Incidental Mutation 'R0044:Ebf2'

32906

Institutional Source

Beutler Lab

Gene Symbol

Ebf2

Ensembl Gene

ENSMUSG00000022053

Gene Name

early B cell factor 2

Synonyms

O/E-3, D14Ggc1e, Mmot1

MMRRC Submission

038338-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R0044 (G1)

Quality Score

178

Status

Validated (trace)

Chromosome

Chromosomal Location

67470741-67668367 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 67548417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022637] [ENSMUST00000176029] [ENSMUST00000176161]

AlphaFold

O08792

Predicted Effect

probably benign
Transcript: ENSMUST00000022637

SMART Domains

Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053

Domain	Start	End	E-Value	Type
IPT	252	336	9.09e-8	SMART
HLH	337	386	3.39e-1	SMART
internal_repeat_1	388	412	2.68e-6	PROSPERO
low complexity region	454	484	N/A	INTRINSIC
low complexity region	512	531	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100448

Predicted Effect

probably benign
Transcript: ENSMUST00000176029

SMART Domains

Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053

Domain	Start	End	E-Value	Type
Pfam:COE1_DBD	16	246	2.3e-145	PFAM
IPT	252	336	9.09e-8	SMART
HLH	337	386	3.39e-1	SMART
internal_repeat_1	388	412	2.68e-6	PROSPERO
low complexity region	454	484	N/A	INTRINSIC
low complexity region	512	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176161

SMART Domains

Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053

Domain	Start	End	E-Value	Type
IPT	252	336	9.09e-8	SMART
HLH	337	386	3.39e-1	SMART
internal_repeat_1	388	412	2.68e-6	PROSPERO
low complexity region	454	484	N/A	INTRINSIC
low complexity region	512	531	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants show decreased viability, impaired olfactory neuron projection, and impaired mating, more so in male mice. Mice homozygous for another knock-out allele exhibit narcolepsy-cataplexy syndrome and decreased orexinergic neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,219,698 (GRCm39)	R50S	probably damaging	Het
Actn2	G	T	13: 12,290,013 (GRCm39)	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,053,641 (GRCm39)	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,876,018 (GRCm39)	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,776,834 (GRCm39)	M447L	probably damaging	Het
Asxl1	C	T	2: 153,242,129 (GRCm39)	T893I	probably benign	Het
Atp11b	T	A	3: 35,866,401 (GRCm39)	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,724,599 (GRCm39)		probably benign	Het
Capn1	T	A	19: 6,064,373 (GRCm39)	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,279,138 (GRCm39)	L190H	probably damaging	Het
Cfap54	T	C	10: 92,871,295 (GRCm39)	I594V	probably null	Het
Cpsf1	A	G	15: 76,483,753 (GRCm39)	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,153,815 (GRCm39)	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,168,116 (GRCm39)	Y386D	probably damaging	Het
Degs2	T	C	12: 108,658,413 (GRCm39)	N189D	probably damaging	Het
Dido1	C	T	2: 180,303,612 (GRCm39)	A1431T	probably damaging	Het
Diras1	G	T	10: 80,857,972 (GRCm39)	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290 (GRCm39)	H41Q	possibly damaging	Het
Fcho2	A	G	13: 98,892,052 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,358,020 (GRCm39)	Y681*	probably null	Het
Gm10036	A	C	18: 15,965,873 (GRCm39)	K8T	probably benign	Het
Herc1	T	A	9: 66,355,457 (GRCm39)	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,302,520 (GRCm39)	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,715,170 (GRCm39)	C119S	probably benign	Het
Kif1b	A	G	4: 149,348,058 (GRCm39)		probably benign	Het
Kif6	T	C	17: 50,139,284 (GRCm39)		probably benign	Het
Lpin1	A	T	12: 16,618,530 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,357,899 (GRCm39)	I377V	probably benign	Het
Mavs	C	A	2: 131,083,944 (GRCm39)	T147N	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mreg	T	G	1: 72,201,534 (GRCm39)	T153P	probably damaging	Het
Naglu	T	C	11: 100,962,043 (GRCm39)	I172T	probably damaging	Het
Odad4	A	T	11: 100,457,827 (GRCm39)	I477F	probably damaging	Het
Ogdhl	T	C	14: 32,061,285 (GRCm39)	V492A	possibly damaging	Het
Or4a72	A	G	2: 89,405,974 (GRCm39)	I32T	possibly damaging	Het
Parvg	A	G	15: 84,222,083 (GRCm39)	E323G	probably benign	Het
Pgap1	A	G	1: 54,532,527 (GRCm39)	L664S	probably damaging	Het
Pgm2l1	A	G	7: 99,899,539 (GRCm39)	N51S	probably benign	Het
Pik3r6	A	G	11: 68,435,576 (GRCm39)	T609A	probably benign	Het
Plcb4	T	A	2: 135,813,776 (GRCm39)	V705E	probably damaging	Het
Plppr5	T	A	3: 117,465,538 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,120,989 (GRCm39)	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,004,566 (GRCm39)	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,402 (GRCm39)	I1655N	probably damaging	Het
Raf1	T	A	6: 115,600,476 (GRCm39)	D10V	probably benign	Het
Rexo1	T	A	10: 80,380,212 (GRCm39)	Q928L	probably benign	Het
Rpl7l1	A	C	17: 47,089,456 (GRCm39)		probably null	Het
Rrm2b	A	G	15: 37,953,932 (GRCm39)	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,321,113 (GRCm39)		probably null	Het
Sgtb	A	G	13: 104,265,768 (GRCm39)	T93A	probably benign	Het
Sigirr	G	T	7: 140,672,226 (GRCm39)		probably null	Het
Slc16a7	T	C	10: 125,063,951 (GRCm39)	D462G	probably benign	Het
Slc25a30	C	T	14: 76,007,089 (GRCm39)	A85T	probably benign	Het
Spata24	A	G	18: 35,789,887 (GRCm39)	S167P	probably damaging	Het
Spock3	C	T	8: 63,597,041 (GRCm39)	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,247,289 (GRCm39)	I581T	possibly damaging	Het
Syn2	A	T	6: 115,112,108 (GRCm39)	M23L	unknown	Het
Synrg	G	A	11: 83,900,007 (GRCm39)	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,314,327 (GRCm39)		probably benign	Het
Tnfaip3	C	A	10: 18,887,374 (GRCm39)	M50I	probably damaging	Het
Topbp1	T	A	9: 103,202,972 (GRCm39)	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,494,003 (GRCm39)	V321G	probably benign	Het
Ubr2	A	G	17: 47,303,911 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,164,369 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,269,281 (GRCm39)		probably benign	Het
Vmn2r100	A	T	17: 19,742,441 (GRCm39)	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,695,379 (GRCm39)	L43H	probably damaging	Het
Wnk1	G	T	6: 120,014,110 (GRCm39)	R162S	probably damaging	Het
Xkr9	G	A	1: 13,754,286 (GRCm39)	W93*	probably null	Het
Zfp804b	G	T	5: 6,819,655 (GRCm39)	P1136H	probably damaging	Het

Other mutations in Ebf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Ebf2	APN	14	67,476,927 (GRCm39)	missense	probably damaging	1.00
IGL01808:Ebf2	APN	14	67,651,932 (GRCm39)	missense	probably benign	0.01
IGL02087:Ebf2	APN	14	67,665,545 (GRCm39)	missense	probably benign	0.03
IGL02094:Ebf2	APN	14	67,472,689 (GRCm39)	missense	possibly damaging	0.80
IGL02270:Ebf2	APN	14	67,476,402 (GRCm39)	missense	probably damaging	1.00
IGL03222:Ebf2	APN	14	67,649,441 (GRCm39)	splice site	probably null
IGL03390:Ebf2	APN	14	67,661,558 (GRCm39)	missense	probably benign	0.19
G1Funyon:Ebf2	UTSW	14	67,476,431 (GRCm39)	missense	possibly damaging	0.86
R0062:Ebf2	UTSW	14	67,475,989 (GRCm39)	splice site	probably benign
R0062:Ebf2	UTSW	14	67,475,989 (GRCm39)	splice site	probably benign
R0069:Ebf2	UTSW	14	67,647,499 (GRCm39)	missense	probably damaging	0.99
R0069:Ebf2	UTSW	14	67,647,499 (GRCm39)	missense	probably damaging	0.99
R0505:Ebf2	UTSW	14	67,609,185 (GRCm39)	nonsense	probably null
R2103:Ebf2	UTSW	14	67,625,391 (GRCm39)	missense	probably damaging	1.00
R2438:Ebf2	UTSW	14	67,625,391 (GRCm39)	missense	probably damaging	1.00
R3789:Ebf2	UTSW	14	67,476,942 (GRCm39)	critical splice donor site	probably null
R4153:Ebf2	UTSW	14	67,472,672 (GRCm39)	missense	probably damaging	1.00
R4348:Ebf2	UTSW	14	67,476,871 (GRCm39)	missense	probably damaging	0.99
R4793:Ebf2	UTSW	14	67,647,531 (GRCm39)	missense	probably damaging	1.00
R4991:Ebf2	UTSW	14	67,627,106 (GRCm39)	missense	possibly damaging	0.87
R5164:Ebf2	UTSW	14	67,627,970 (GRCm39)	missense	possibly damaging	0.94
R5222:Ebf2	UTSW	14	67,551,043 (GRCm39)	intron	probably benign
R5227:Ebf2	UTSW	14	67,484,518 (GRCm39)	missense	probably damaging	0.99
R5459:Ebf2	UTSW	14	67,472,650 (GRCm39)	missense	probably benign	0.34
R5622:Ebf2	UTSW	14	67,628,007 (GRCm39)	missense	possibly damaging	0.91
R6035:Ebf2	UTSW	14	67,476,423 (GRCm39)	missense	probably damaging	1.00
R6035:Ebf2	UTSW	14	67,476,423 (GRCm39)	missense	probably damaging	1.00
R6265:Ebf2	UTSW	14	67,661,509 (GRCm39)	missense	probably benign	0.00
R6893:Ebf2	UTSW	14	67,475,008 (GRCm39)	missense	probably benign	0.22
R7078:Ebf2	UTSW	14	67,661,407 (GRCm39)	missense	probably benign
R7394:Ebf2	UTSW	14	67,474,975 (GRCm39)	missense	probably damaging	0.99
R7449:Ebf2	UTSW	14	67,647,469 (GRCm39)	missense	probably damaging	0.99
R7652:Ebf2	UTSW	14	67,628,016 (GRCm39)	critical splice donor site	probably null
R7724:Ebf2	UTSW	14	67,661,489 (GRCm39)	missense	probably damaging	1.00
R8143:Ebf2	UTSW	14	67,649,386 (GRCm39)	nonsense	probably null
R8153:Ebf2	UTSW	14	67,627,914 (GRCm39)	missense	probably damaging	0.97
R8301:Ebf2	UTSW	14	67,476,431 (GRCm39)	missense	possibly damaging	0.86
R8963:Ebf2	UTSW	14	67,665,554 (GRCm39)	missense	probably benign	0.34
R8978:Ebf2	UTSW	14	67,661,548 (GRCm39)	missense	probably benign
R9031:Ebf2	UTSW	14	67,472,594 (GRCm39)	missense	probably benign	0.01
R9409:Ebf2	UTSW	14	67,472,665 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCACTTCCTTGTTGATTCCAGGAC -3'
(R):5'- CCCTGTGCTTCTGAGAACAGAGAAC -3'

Sequencing Primer
(F):5'- gacgcttaccacaacccc -3'
(R):5'- gatttgcacgcccacac -3'

Posted On

2013-05-09