Mutagenetix > Incidental Mutation

Incidental Mutation 'R5622:Ebf2'

441648

Institutional Source

Beutler Lab

Gene Symbol

Ebf2

Ensembl Gene

ENSMUSG00000022053

Gene Name

early B cell factor 2

Synonyms

O/E-3, D14Ggc1e, Mmot1

MMRRC Submission

043161-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R5622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67470741-67668367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67628007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 334 (I334T)

Ref Sequence

ENSEMBL: ENSMUSP00000135500 (fasta)

Gene Model

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

AlphaFold

O08792

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022637
AA Change: I334T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: I334T

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: I334T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: I334T

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: I334T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: I334T

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

0.3213

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,546,642 (GRCm39)	S320T	probably benign	Het
Alg8	T	A	7: 97,036,006 (GRCm39)		probably benign	Het
Anp32b	G	A	4: 46,469,930 (GRCm39)	E202K	unknown	Het
Apcdd1	A	G	18: 63,069,973 (GRCm39)		probably null	Het
Apobec2	A	G	17: 48,730,444 (GRCm39)	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959 (GRCm39)	C79S	probably benign	Het
Atp1a2	A	T	1: 172,118,994 (GRCm39)		probably benign	Het
B2m	A	T	2: 121,981,471 (GRCm39)	N62I	probably damaging	Het
Borcs5	T	C	6: 134,663,086 (GRCm39)		probably null	Het
Ccn1	A	G	3: 145,355,075 (GRCm39)	L60P	probably damaging	Het
Cdk11b	A	G	4: 155,714,674 (GRCm39)	K127E	probably damaging	Het
Cep170	T	C	1: 176,563,433 (GRCm39)	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,466,219 (GRCm39)	S190A	probably benign	Het
Cryba4	T	C	5: 112,398,990 (GRCm39)	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,535,299 (GRCm39)	V87G	probably damaging	Het
Dcaf8	A	G	1: 172,013,965 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,404,500 (GRCm39)	S2681P	probably benign	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Deptor	T	A	15: 55,044,428 (GRCm39)	I198N	probably damaging	Het
F5	A	G	1: 164,020,134 (GRCm39)	R870G	probably benign	Het
Flg2	A	C	3: 93,109,871 (GRCm39)	H633P	unknown	Het
Gm11938	T	A	11: 99,494,119 (GRCm39)		probably null	Het
Gm6370	A	G	5: 146,430,708 (GRCm39)	T298A	probably benign	Het
H60b	C	A	10: 22,159,441 (GRCm39)		probably benign	Het
Hsbp1	A	G	8: 120,071,324 (GRCm39)	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,524 (GRCm39)	D266E	possibly damaging	Het
Ift172	T	C	5: 31,440,426 (GRCm39)	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,368,371 (GRCm39)	Q4L	probably benign	Het
Krt5	T	C	15: 101,617,470 (GRCm39)	D421G	probably damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Me3	A	G	7: 89,445,871 (GRCm39)	D196G	probably damaging	Het
Mfsd12	T	A	10: 81,199,461 (GRCm39)	V451E	probably null	Het
Mib1	A	G	18: 10,794,503 (GRCm39)	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,015,244 (GRCm39)	N679I	probably benign	Het
Myt1	A	G	2: 181,438,915 (GRCm39)	T146A	probably benign	Het
Neb	T	A	2: 52,160,281 (GRCm39)	H2244L	probably damaging	Het
Or51l4	T	C	7: 103,404,376 (GRCm39)	T139A	probably damaging	Het
Or5b21	A	C	19: 12,839,663 (GRCm39)	I175L	probably benign	Het
Or5p81	C	T	7: 108,267,289 (GRCm39)	T222I	probably benign	Het
Pabpc4	A	G	4: 123,185,524 (GRCm39)		probably null	Het
Padi1	C	A	4: 140,552,266 (GRCm39)	V393L	probably damaging	Het
Pax2	A	T	19: 44,806,905 (GRCm39)	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,581,078 (GRCm39)	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,906,172 (GRCm39)	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,793,014 (GRCm39)	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,545,210 (GRCm39)	S630R	probably damaging	Het
Prrt2	A	T	7: 126,618,937 (GRCm39)	V176D	probably benign	Het
Prss1l	A	C	6: 41,373,084 (GRCm39)	N119H	probably damaging	Het
Prss42	T	C	9: 110,628,490 (GRCm39)		probably null	Het
Rhoq	A	G	17: 87,304,459 (GRCm39)	R197G	probably benign	Het
Rin2	A	T	2: 145,702,299 (GRCm39)	T332S	probably benign	Het
Rnps1-ps	C	T	6: 7,982,605 (GRCm39)		noncoding transcript	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,900,700 (GRCm39)	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,517,693 (GRCm39)	R497Q	probably damaging	Het
Slf1	T	C	13: 77,198,090 (GRCm39)	K728R	probably benign	Het
Tiparp	T	G	3: 65,454,946 (GRCm39)	S364A	probably benign	Het
Tph1	G	A	7: 46,296,969 (GRCm39)	Q409*	probably null	Het
Trp73	A	T	4: 154,145,049 (GRCm39)	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,793,332 (GRCm39)	R103*	probably null	Het
Vmn2r75	T	A	7: 85,797,702 (GRCm39)	I704F	probably benign	Het
Wdr76	A	G	2: 121,348,216 (GRCm39)	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,648,928 (GRCm39)	S735C	probably damaging	Het
Zfp383	G	A	7: 29,611,615 (GRCm39)	V32M	probably damaging	Het
Zfp810	T	A	9: 22,190,392 (GRCm39)	Y172F	probably benign	Het

Other mutations in Ebf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Ebf2	APN	14	67,476,927 (GRCm39)	missense	probably damaging	1.00
IGL01808:Ebf2	APN	14	67,651,932 (GRCm39)	missense	probably benign	0.01
IGL02087:Ebf2	APN	14	67,665,545 (GRCm39)	missense	probably benign	0.03
IGL02094:Ebf2	APN	14	67,472,689 (GRCm39)	missense	possibly damaging	0.80
IGL02270:Ebf2	APN	14	67,476,402 (GRCm39)	missense	probably damaging	1.00
IGL03222:Ebf2	APN	14	67,649,441 (GRCm39)	splice site	probably null
IGL03390:Ebf2	APN	14	67,661,558 (GRCm39)	missense	probably benign	0.19
G1Funyon:Ebf2	UTSW	14	67,476,431 (GRCm39)	missense	possibly damaging	0.86
R0044:Ebf2	UTSW	14	67,548,417 (GRCm39)	intron	probably benign
R0062:Ebf2	UTSW	14	67,475,989 (GRCm39)	splice site	probably benign
R0062:Ebf2	UTSW	14	67,475,989 (GRCm39)	splice site	probably benign
R0069:Ebf2	UTSW	14	67,647,499 (GRCm39)	missense	probably damaging	0.99
R0069:Ebf2	UTSW	14	67,647,499 (GRCm39)	missense	probably damaging	0.99
R0505:Ebf2	UTSW	14	67,609,185 (GRCm39)	nonsense	probably null
R2103:Ebf2	UTSW	14	67,625,391 (GRCm39)	missense	probably damaging	1.00
R2438:Ebf2	UTSW	14	67,625,391 (GRCm39)	missense	probably damaging	1.00
R3789:Ebf2	UTSW	14	67,476,942 (GRCm39)	critical splice donor site	probably null
R4153:Ebf2	UTSW	14	67,472,672 (GRCm39)	missense	probably damaging	1.00
R4348:Ebf2	UTSW	14	67,476,871 (GRCm39)	missense	probably damaging	0.99
R4793:Ebf2	UTSW	14	67,647,531 (GRCm39)	missense	probably damaging	1.00
R4991:Ebf2	UTSW	14	67,627,106 (GRCm39)	missense	possibly damaging	0.87
R5164:Ebf2	UTSW	14	67,627,970 (GRCm39)	missense	possibly damaging	0.94
R5222:Ebf2	UTSW	14	67,551,043 (GRCm39)	intron	probably benign
R5227:Ebf2	UTSW	14	67,484,518 (GRCm39)	missense	probably damaging	0.99
R5459:Ebf2	UTSW	14	67,472,650 (GRCm39)	missense	probably benign	0.34
R6035:Ebf2	UTSW	14	67,476,423 (GRCm39)	missense	probably damaging	1.00
R6035:Ebf2	UTSW	14	67,476,423 (GRCm39)	missense	probably damaging	1.00
R6265:Ebf2	UTSW	14	67,661,509 (GRCm39)	missense	probably benign	0.00
R6893:Ebf2	UTSW	14	67,475,008 (GRCm39)	missense	probably benign	0.22
R7078:Ebf2	UTSW	14	67,661,407 (GRCm39)	missense	probably benign
R7394:Ebf2	UTSW	14	67,474,975 (GRCm39)	missense	probably damaging	0.99
R7449:Ebf2	UTSW	14	67,647,469 (GRCm39)	missense	probably damaging	0.99
R7652:Ebf2	UTSW	14	67,628,016 (GRCm39)	critical splice donor site	probably null
R7724:Ebf2	UTSW	14	67,661,489 (GRCm39)	missense	probably damaging	1.00
R8143:Ebf2	UTSW	14	67,649,386 (GRCm39)	nonsense	probably null
R8153:Ebf2	UTSW	14	67,627,914 (GRCm39)	missense	probably damaging	0.97
R8301:Ebf2	UTSW	14	67,476,431 (GRCm39)	missense	possibly damaging	0.86
R8963:Ebf2	UTSW	14	67,665,554 (GRCm39)	missense	probably benign	0.34
R8978:Ebf2	UTSW	14	67,661,548 (GRCm39)	missense	probably benign
R9031:Ebf2	UTSW	14	67,472,594 (GRCm39)	missense	probably benign	0.01
R9409:Ebf2	UTSW	14	67,472,665 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGAAGCAGTGACCTCTTTC -3'
(R):5'- GTTGCCATAGCCATCAACAGAC -3'

Sequencing Primer
(F):5'- CAGAAGCAGTGACCTCTTTCTTTGG -3'
(R):5'- GACCATGCAGAAGTTTCTCAGGTC -3'

Posted On

2016-11-08