Mutagenetix > Incidental Mutations

Incidental Mutation 'R8301:Ebf2'

639286

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67233292-67430918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67238982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 134 (T134A)

Ref Sequence

ENSEMBL: ENSMUSP00000022637 (fasta)

Gene Model

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

AlphaFold

O08792

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022637
AA Change: T134A

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: T134A

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: T134A

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: T134A

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: T134A

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: T134A

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

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505	I374F	probably benign	Het
9430076C15Rik	A	G	6: 53,681,033	D116G	possibly damaging	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Sepn1	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	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
G1Funyon:Ebf2	UTSW	14	67238982	missense	possibly damaging	0.86
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
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
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
R8143:Ebf2	UTSW	14	67411937	nonsense	probably null
R8153:Ebf2	UTSW	14	67390465	missense	probably damaging	0.97
R8963:Ebf2	UTSW	14	67428105	missense	probably benign	0.34
R8978:Ebf2	UTSW	14	67424099	missense	probably benign
R9031:Ebf2	UTSW	14	67235145	missense	probably benign	0.01
R9409:Ebf2	UTSW	14	67235216	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTAGTGAGTGCAGTCCTG -3'
(R):5'- TAGCACATGAAACAGGGCC -3'

Sequencing Primer
(F):5'- AGGGGTGTCTCTCTTCATGTCAATTC -3'
(R):5'- TGAAACAGGGCCACCAGAGC -3'

Posted On

2020-07-28