Mutagenetix > Incidental Mutation

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

067789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) 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 (GRCm38)	I374F	probably benign	Het
Ak9	G	A	10: 41,424,716 (GRCm38)	V1108I		Het
Aldh16a1	C	T	7: 45,141,982 (GRCm38)	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580 (GRCm38)		probably benign	Het
Antxr2	T	G	5: 97,977,679 (GRCm38)	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833 (GRCm38)	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659 (GRCm38)	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930 (GRCm38)	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204 (GRCm38)	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441 (GRCm38)		probably benign	Het
Calm1	A	G	12: 100,205,685 (GRCm38)	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043 (GRCm38)	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659 (GRCm38)	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074 (GRCm38)	I617T	possibly damaging	Het
Creb5	A	G	6: 53,681,033 (GRCm38)	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991 (GRCm38)	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597 (GRCm38)	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577 (GRCm38)	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111 (GRCm38)		probably benign	Het
Echdc2	A	T	4: 108,172,909 (GRCm38)	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407 (GRCm38)	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284 (GRCm38)	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889 (GRCm38)	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346 (GRCm38)	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545 (GRCm38)	G265D		Het
Igsf9b	T	G	9: 27,334,739 (GRCm38)		probably benign	Het
Ints6	A	G	14: 62,702,453 (GRCm38)	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120 (GRCm38)	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151 (GRCm38)		probably null	Het
Kalrn	G	T	16: 34,357,100 (GRCm38)	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488 (GRCm38)	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131 (GRCm38)	N74S	probably benign	Het
Neb	T	C	2: 52,288,835 (GRCm38)	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493 (GRCm38)	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626 (GRCm38)	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073 (GRCm38)	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564 (GRCm38)	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840 (GRCm38)	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026 (GRCm38)	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183 (GRCm38)	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062 (GRCm38)	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631 (GRCm38)	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687 (GRCm38)	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175 (GRCm38)	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819 (GRCm38)	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895 (GRCm38)	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764 (GRCm38)	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185 (GRCm38)		probably benign	Het
Prl7b1	A	C	13: 27,602,772 (GRCm38)	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981 (GRCm38)	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102 (GRCm38)		probably benign	Het
Psg18	A	T	7: 18,353,377 (GRCm38)	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794 (GRCm38)	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742 (GRCm38)	S1491T		Het
Rsf1	T	C	7: 97,661,925 (GRCm38)	S621P		Het
Runx1	C	A	16: 92,605,656 (GRCm38)	*466L	probably null	Het
Samd4	A	G	14: 47,016,678 (GRCm38)	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519 (GRCm38)	C241Y	probably benign	Het
Selenon	T	C	4: 134,551,414 (GRCm38)		probably benign	Het
Setx	C	T	2: 29,145,690 (GRCm38)	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366 (GRCm38)	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691 (GRCm38)	N833I	probably damaging	Het
Slc1a4	T	C	11: 20,332,286 (GRCm38)	R63G	probably damaging	Het
Tmeff2	G	T	1: 51,181,837 (GRCm38)	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492 (GRCm38)	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878 (GRCm38)	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567 (GRCm38)	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006 (GRCm38)	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568 (GRCm38)	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302 (GRCm38)	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879 (GRCm38)	H481Q	probably damaging	Het

Other mutations in Ebf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Ebf2	APN	14	67,239,478 (GRCm38)	missense	probably damaging	1.00
IGL01808:Ebf2	APN	14	67,414,483 (GRCm38)	missense	probably benign	0.01
IGL02087:Ebf2	APN	14	67,428,096 (GRCm38)	missense	probably benign	0.03
IGL02094:Ebf2	APN	14	67,235,240 (GRCm38)	missense	possibly damaging	0.80
IGL02270:Ebf2	APN	14	67,238,953 (GRCm38)	missense	probably damaging	1.00
IGL03222:Ebf2	APN	14	67,411,992 (GRCm38)	splice site	probably null
IGL03390:Ebf2	APN	14	67,424,109 (GRCm38)	missense	probably benign	0.19
G1Funyon:Ebf2	UTSW	14	67,238,982 (GRCm38)	missense	possibly damaging	0.86
R0044:Ebf2	UTSW	14	67,310,968 (GRCm38)	intron	probably benign
R0062:Ebf2	UTSW	14	67,238,540 (GRCm38)	splice site	probably benign
R0062:Ebf2	UTSW	14	67,238,540 (GRCm38)	splice site	probably benign
R0069:Ebf2	UTSW	14	67,410,050 (GRCm38)	missense	probably damaging	0.99
R0069:Ebf2	UTSW	14	67,410,050 (GRCm38)	missense	probably damaging	0.99
R0505:Ebf2	UTSW	14	67,371,736 (GRCm38)	nonsense	probably null
R2103:Ebf2	UTSW	14	67,387,942 (GRCm38)	missense	probably damaging	1.00
R2438:Ebf2	UTSW	14	67,387,942 (GRCm38)	missense	probably damaging	1.00
R3789:Ebf2	UTSW	14	67,239,493 (GRCm38)	critical splice donor site	probably null
R4153:Ebf2	UTSW	14	67,235,223 (GRCm38)	missense	probably damaging	1.00
R4348:Ebf2	UTSW	14	67,239,422 (GRCm38)	missense	probably damaging	0.99
R4793:Ebf2	UTSW	14	67,410,082 (GRCm38)	missense	probably damaging	1.00
R4991:Ebf2	UTSW	14	67,389,657 (GRCm38)	missense	possibly damaging	0.87
R5164:Ebf2	UTSW	14	67,390,521 (GRCm38)	missense	possibly damaging	0.94
R5222:Ebf2	UTSW	14	67,313,594 (GRCm38)	intron	probably benign
R5227:Ebf2	UTSW	14	67,247,069 (GRCm38)	missense	probably damaging	0.99
R5459:Ebf2	UTSW	14	67,235,201 (GRCm38)	missense	probably benign	0.34
R5622:Ebf2	UTSW	14	67,390,558 (GRCm38)	missense	possibly damaging	0.91
R6035:Ebf2	UTSW	14	67,238,974 (GRCm38)	missense	probably damaging	1.00
R6035:Ebf2	UTSW	14	67,238,974 (GRCm38)	missense	probably damaging	1.00
R6265:Ebf2	UTSW	14	67,424,060 (GRCm38)	missense	probably benign	0.00
R6893:Ebf2	UTSW	14	67,237,559 (GRCm38)	missense	probably benign	0.22
R7078:Ebf2	UTSW	14	67,423,958 (GRCm38)	missense	probably benign
R7394:Ebf2	UTSW	14	67,237,526 (GRCm38)	missense	probably damaging	0.99
R7449:Ebf2	UTSW	14	67,410,020 (GRCm38)	missense	probably damaging	0.99
R7652:Ebf2	UTSW	14	67,390,567 (GRCm38)	critical splice donor site	probably null
R7724:Ebf2	UTSW	14	67,424,040 (GRCm38)	missense	probably damaging	1.00
R8143:Ebf2	UTSW	14	67,411,937 (GRCm38)	nonsense	probably null
R8153:Ebf2	UTSW	14	67,390,465 (GRCm38)	missense	probably damaging	0.97
R8963:Ebf2	UTSW	14	67,428,105 (GRCm38)	missense	probably benign	0.34
R8978:Ebf2	UTSW	14	67,424,099 (GRCm38)	missense	probably benign
R9031:Ebf2	UTSW	14	67,235,145 (GRCm38)	missense	probably benign	0.01
R9409:Ebf2	UTSW	14	67,235,216 (GRCm38)	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