Mutagenetix > Incidental Mutations

Incidental Mutation 'R4153:Ebf2'

315009

Institutional Source

Beutler Lab

Gene Symbol

Ebf2

Ensembl Gene

ENSMUSG00000022053

Gene Name

early B cell factor 2

Synonyms

Mmot1, D14Ggc1e, O/E-3

MMRRC Submission

040997-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R4153 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67233292-67430918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67235223 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 30 (V30G)

Ref Sequence

ENSEMBL: ENSMUSP00000135500 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022637
AA Change: V30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: V30G

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: ENSMUST00000175861

Predicted Effect

probably damaging
Transcript: ENSMUST00000176029
AA Change: V30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: V30G

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 damaging
Transcript: ENSMUST00000176161
AA Change: V30G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: V30G

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

Meta Mutation Damage Score

0.118

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (53/55)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,193,173	V47A	probably benign	Het
4932414N04Rik	A	T	2: 68,668,597		probably benign	Het
Acat2	T	A	17: 12,952,266	H159L	possibly damaging	Het
Acsl5	A	G	19: 55,281,463	E253G	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Erlin1	T	A	19: 44,067,617	T60S	probably benign	Het
Fanca	A	G	8: 123,304,878	V358A	possibly damaging	Het
Fastkd3	T	C	13: 68,590,138	F602S	probably damaging	Het
Fras1	C	A	5: 96,776,735	N3678K	probably benign	Het
Gm5346	T	A	8: 43,626,527	Y220F	probably benign	Het
Gopc	T	C	10: 52,349,143	I277V	probably damaging	Het
Gpd2	A	G	2: 57,355,771	T438A	probably damaging	Het
Gzma	T	C	13: 113,096,268	K97E	possibly damaging	Het
Gzmn	T	A	14: 56,167,842	T62S	probably damaging	Het
Hip1	T	C	5: 135,412,706	E570G	probably damaging	Het
Hs3st6	T	C	17: 24,758,365	V273A	possibly damaging	Het
Jarid2	C	A	13: 44,910,426	S873R	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Mast2	T	C	4: 116,315,963	N548S	possibly damaging	Het
Mthfr	G	T	4: 148,051,475	R335L	probably damaging	Het
Ndst3	T	C	3: 123,672,227	Y32C	probably damaging	Het
Nwd1	T	C	8: 72,681,936	L808P	probably damaging	Het
Olfr681	A	T	7: 105,122,309	H284L	probably damaging	Het
Olfr690	T	C	7: 105,329,385	N269S	probably damaging	Het
Olfr965	A	C	9: 39,720,000	M258L	probably benign	Het
Pgk2	A	G	17: 40,208,258	V93A	probably damaging	Het
Pigk	G	A	3: 152,740,129	V126I	probably damaging	Het
Plcl2	A	T	17: 50,606,361	K133*	probably null	Het
Pofut2	A	G	10: 77,268,666	K426E	probably benign	Het
Rbpj	T	A	5: 53,649,447	H230Q	probably damaging	Het
Rnf213	A	G	11: 119,409,482	K269E	probably benign	Het
Shh	A	T	5: 28,457,949	I407N	probably damaging	Het
Sntg1	A	T	1: 8,583,345		probably null	Het
Svep1	A	T	4: 58,089,426	F1661Y	possibly damaging	Het
Tep1	G	A	14: 50,837,594	H1755Y	possibly damaging	Het
Thrap3	A	C	4: 126,173,442		probably null	Het
Thumpd1	C	T	7: 119,720,593	C50Y	probably damaging	Het
Tmem131	T	C	1: 36,808,793		probably benign	Het
Tnrc18	T	C	5: 142,765,992	D1368G	possibly damaging	Het
Tubd1	G	A	11: 86,549,470	G107S	probably damaging	Het
Ugt1a6a	A	G	1: 88,138,471		probably null	Het
Uty	A	G	Y: 1,158,327	V572A	possibly damaging	Het
Vmn1r171	A	G	7: 23,632,652	K89E	probably damaging	Het
Vmn2r100	AAAACAGGAGTATTGATTGGAAAC	AAAAC	17: 19,523,419		probably null	Het
Vmn2r106	A	G	17: 20,267,818	L773P	probably damaging	Het
Vps13b	T	A	15: 35,792,027		probably null	Het

Other mutations in Ebf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Ebf2	APN	14	67239478	missense	probably damaging	1.00
IGL01808:Ebf2	APN	14	67414483	missense	probably benign	0.01
IGL02087:Ebf2	APN	14	67428096	missense	probably benign	0.03
IGL02094:Ebf2	APN	14	67235240	missense	possibly damaging	0.80
IGL02270:Ebf2	APN	14	67238953	missense	probably damaging	1.00
IGL03222:Ebf2	APN	14	67411992	splice site	probably null
IGL03390:Ebf2	APN	14	67424109	missense	probably benign	0.19
R0044:Ebf2	UTSW	14	67310968	intron	probably benign
R0062:Ebf2	UTSW	14	67238540	splice site	probably benign
R0062:Ebf2	UTSW	14	67238540	splice site	probably benign
R0069:Ebf2	UTSW	14	67410050	missense	probably damaging	0.99
R0069:Ebf2	UTSW	14	67410050	missense	probably damaging	0.99
R0505:Ebf2	UTSW	14	67371736	nonsense	probably null
R2103:Ebf2	UTSW	14	67387942	missense	probably damaging	1.00
R2438:Ebf2	UTSW	14	67387942	missense	probably damaging	1.00
R3789:Ebf2	UTSW	14	67239493	critical splice donor site	probably null
R4348:Ebf2	UTSW	14	67239422	missense	probably damaging	0.99
R4793:Ebf2	UTSW	14	67410082	missense	probably damaging	1.00
R4991:Ebf2	UTSW	14	67389657	missense	possibly damaging	0.87
R5164:Ebf2	UTSW	14	67390521	missense	possibly damaging	0.94
R5222:Ebf2	UTSW	14	67313594	intron	probably benign
R5227:Ebf2	UTSW	14	67247069	missense	probably damaging	0.99
R5459:Ebf2	UTSW	14	67235201	missense	probably benign	0.34
R5622:Ebf2	UTSW	14	67390558	missense	possibly damaging	0.91
R6035:Ebf2	UTSW	14	67238974	missense	probably damaging	1.00
R6035:Ebf2	UTSW	14	67238974	missense	probably damaging	1.00
R6265:Ebf2	UTSW	14	67424060	missense	probably benign	0.00
R6893:Ebf2	UTSW	14	67237559	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TTTGGAGAACACCATTTGCTG -3'
(R):5'- AGTTCAGAAACTACAGTGTCGAC -3'

Sequencing Primer
(F):5'- CTGGCAGCATTGGAGAGTG -3'
(R):5'- TCGACTGCGGGAAAAGGGTTC -3'

Posted On

2015-05-14