Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Ebf2'

577594

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

045524-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67233292-67430918 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67410020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 339 (N339K)

Ref Sequence

ENSEMBL: ENSMUSP00000022637 (fasta)

Gene Model

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

AlphaFold

O08792

Predicted Effect

probably damaging
Transcript: ENSMUST00000022637
AA Change: N339K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: N339K

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 damaging
Transcript: ENSMUST00000176029
AA Change: N339K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: N339K

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: N339K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: N339K

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: 99.7%
20x: 99.0%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Krt39	C	A	11: 99,518,061	C303F	probably benign	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly 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
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
R8301:Ebf2	UTSW	14	67238982	missense	possibly damaging	0.86
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'- GATGGAGACTTACCACACATCC -3'
(R):5'- AAGCATAGCCAGTTTCAAAGC -3'

Sequencing Primer
(F):5'- TGTCAACAACATAATCCCCT -3'
(R):5'- GATTTGCTGAGTGTCGAC -3'

Posted On

2019-10-07