Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Ebf2'

46649

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

038354-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R0062 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

67470741-67668367 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 67475989 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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177231

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	probably benign	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
R0044:Ebf2	UTSW	14	67,548,417 (GRCm39)	intron	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'- AGCGACTGAGCACCTTCCTTGAAC -3'
(R):5'- CACAGGACTGCACTCACTAGCTTTC -3'

Sequencing Primer
(F):5'- TGCCCTTTCTAAAGGACAGG -3'
(R):5'- TTTCTACCCTCCCAAGCACAG -3'

Posted On

2013-06-11