Mutagenetix > Incidental Mutations

Incidental Mutation 'R4991:Ebf2'

386220

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

042585-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R4991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67233292-67430918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67389657 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 265 (T265S)

Ref Sequence

ENSEMBL: ENSMUSP00000135500 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022637
AA Change: T265S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: T265S

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

possibly damaging
Transcript: ENSMUST00000176029
AA Change: T265S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: T265S

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

possibly damaging
Transcript: ENSMUST00000176161
AA Change: T265S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: T265S

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: ENSMUST00000176841

Meta Mutation Damage Score

0.6812

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 55,773,465	T665K	probably benign	Het
Adgrf3	C	T	5: 30,199,148	V369M	probably benign	Het
Als2	T	C	1: 59,207,768	K571E	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Asb14	T	C	14: 26,915,058	S586P	probably damaging	Het
Chmp4b	A	G	2: 154,692,625	E187G	probably benign	Het
Cox6b2	T	C	7: 4,752,161	D38G	probably damaging	Het
Cpm	G	A	10: 117,668,103	C138Y	probably damaging	Het
Csmd3	G	T	15: 48,001,478	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,377,800	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,084,583	N506K	probably damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Gm13212	C	A	4: 145,622,334	Q114K	probably benign	Het
Gm14548	T	G	7: 3,895,572	Q292H	probably benign	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm19684	A	G	17: 36,127,472		probably benign	Het
Gm29106	T	C	1: 118,178,391	M37T	probably benign	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hdac5	T	A	11: 102,205,624	E252D	probably damaging	Het
Ifitm3	A	T	7: 141,010,459	F63I	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,274,848	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,232,756	D418G	probably benign	Het
Kif1a	T	C	1: 93,078,808	T46A	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lca5l	T	C	16: 96,159,732	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847	S348A	probably benign	Het
Mog	T	C	17: 37,017,489		probably null	Het
Mtmr7	A	G	8: 40,554,345	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,901,140	K134E	probably benign	Het
Nbeal2	C	T	9: 110,638,767	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,469,127	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Olfr1031	A	G	2: 85,992,287	M157V	probably damaging	Het
Olfr1447	T	G	19: 12,901,451	T110P	probably damaging	Het
Olfr313	T	C	11: 58,817,718	S237P	probably damaging	Het
Osgin1	A	G	8: 119,445,289	E274G	probably damaging	Het
Otof	G	A	5: 30,394,181	R343W	probably damaging	Het
Pcdha9	A	T	18: 36,998,345	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Samd4	A	T	14: 47,074,010	S262C	probably damaging	Het
Snap91	T	C	9: 86,790,154		probably null	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
St3gal4	A	G	9: 35,053,136	V190A	possibly damaging	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Tmem201	A	T	4: 149,728,155	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,869,724	S60P	probably benign	Het
Trpa1	T	C	1: 14,910,746	Y144C	probably benign	Het
U90926	G	A	5: 92,210,020	P91S	probably benign	Het
Utp20	G	T	10: 88,746,934	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,076,527	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,751,130	L237S	probably damaging	Het
Washc5	A	G	15: 59,344,080	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,456,618		probably null	Het
Zfp212	G	A	6: 47,926,862	R127H	probably damaging	Het
Zfp740	G	T	15: 102,208,279		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
R4153:Ebf2	UTSW	14	67235223	missense	probably damaging	1.00
R4348:Ebf2	UTSW	14	67239422	missense	probably damaging	0.99
R4793:Ebf2	UTSW	14	67410082	missense	probably damaging	1.00
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
R7078:Ebf2	UTSW	14	67423958	missense	probably benign
R7394:Ebf2	UTSW	14	67237526	missense	probably damaging	0.99
R7449:Ebf2	UTSW	14	67410020	missense	probably damaging	0.99
R7652:Ebf2	UTSW	14	67390567	critical splice donor site	probably null
R7724:Ebf2	UTSW	14	67424040	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACATAATGGCCAACTCATTAGGC -3'
(R):5'- TGCTTCACCAGGAACCACTG -3'

Sequencing Primer
(F):5'- GGCCAACTCATTAGGCTTTAATG -3'
(R):5'- TGGTTCCCCCAGCCCAAAAG -3'

Posted On

2016-05-10