Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Ebf4'

265276

Institutional Source

Beutler Lab

Gene Symbol

Ebf4

Ensembl Gene

ENSMUSG00000053552

Gene Name

early B cell factor 4

Synonyms

O/E-4, Olf-1/EBF-like 4

MMRRC Submission

040568-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R3078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130137089-130212401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130148419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 77 (D77N)

Ref Sequence

ENSEMBL: ENSMUSP00000105916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110286] [ENSMUST00000110287] [ENSMUST00000110288] [ENSMUST00000126740] [ENSMUST00000140169]

AlphaFold

Q8K4J2

Predicted Effect

probably damaging
Transcript: ENSMUST00000110286
AA Change: D77N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
AA Change: D77N

Domain	Start	End	E-Value	Type
IPT	255	339	1.09e-5	SMART
HLH	340	389	7.22e-1	SMART
internal_repeat_1	391	406	1.45e-5	PROSPERO
low complexity region	407	426	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
low complexity region	512	534	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110287
AA Change: D77N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
AA Change: D77N

Domain	Start	End	E-Value	Type
IPT	255	339	1.09e-5	SMART
HLH	340	389	7.22e-1	SMART
internal_repeat_1	391	406	1.25e-5	PROSPERO
low complexity region	407	426	N/A	INTRINSIC
low complexity region	462	480	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110288
AA Change: D174N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
AA Change: D174N

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
low complexity region	69	101	N/A	INTRINSIC
Pfam:COE1_DBD	114	345	3.6e-148	PFAM
IPT	352	436	1.09e-5	SMART
HLH	437	486	7.22e-1	SMART
internal_repeat_1	488	503	3.82e-7	PROSPERO
low complexity region	504	523	N/A	INTRINSIC
low complexity region	561	584	N/A	INTRINSIC
low complexity region	609	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126740
AA Change: D77N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
AA Change: D77N

Domain	Start	End	E-Value	Type
IPT	255	339	1.09e-5	SMART
HLH	340	389	7.22e-1	SMART
internal_repeat_1	391	406	1.27e-5	PROSPERO
low complexity region	407	426	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
low complexity region	512	534	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134728

Predicted Effect

probably damaging
Transcript: ENSMUST00000140169
AA Change: D77N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134520
Gene: ENSMUSG00000053552
AA Change: D77N

Domain	Start	End	E-Value	Type
IPT	255	339	1.09e-5	SMART
HLH	340	389	7.22e-1	SMART
internal_repeat_1	391	406	3.44e-5	PROSPERO
low complexity region	407	426	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC

Meta Mutation Damage Score

0.1772

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,306,764 (GRCm39)	I1981V	probably benign	Het
Actr3b	A	G	5: 26,027,440 (GRCm39)	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Alg10b	T	C	15: 90,112,139 (GRCm39)	S328P	probably benign	Het
C5ar2	G	A	7: 15,971,349 (GRCm39)	R193C	probably damaging	Het
Cct8	A	G	16: 87,285,765 (GRCm39)	V231A	possibly damaging	Het
Clca4a	C	T	3: 144,674,014 (GRCm39)	M240I	probably damaging	Het
Cmya5	A	T	13: 93,185,435 (GRCm39)	I3520N	probably damaging	Het
Dock6	G	T	9: 21,757,050 (GRCm39)		probably benign	Het
Dynlrb1	T	A	2: 155,091,865 (GRCm39)	I99N	probably damaging	Het
Fbxw10	C	T	11: 62,758,339 (GRCm39)		probably benign	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gm5499	T	C	17: 87,386,314 (GRCm39)		noncoding transcript	Het
Gm9913	A	G	2: 125,348,459 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,786,991 (GRCm39)	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,182,889 (GRCm39)	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,453,124 (GRCm39)		probably null	Het
Insyn2a	A	G	7: 134,519,750 (GRCm39)	I260T	probably benign	Het
Iqca1l	G	C	5: 24,751,664 (GRCm39)	T528S	probably benign	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Med28	A	G	5: 45,679,820 (GRCm39)	T68A	possibly damaging	Het
Meis1	A	T	11: 18,961,254 (GRCm39)	N206K	probably benign	Het
Mfsd14a	T	C	3: 116,441,566 (GRCm39)		probably benign	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Mto1	A	G	9: 78,365,310 (GRCm39)	Y413C	probably damaging	Het
Myo7b	T	C	18: 32,100,237 (GRCm39)	D1599G	probably benign	Het
Myoz1	T	C	14: 20,703,685 (GRCm39)		probably benign	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182 (GRCm39)	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,227,186 (GRCm39)	C274G	probably damaging	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or5ac22	A	T	16: 59,135,089 (GRCm39)	M227K	probably benign	Het
Phldb2	T	C	16: 45,645,373 (GRCm39)	T403A	probably benign	Het
Plaa	T	C	4: 94,458,042 (GRCm39)	I643V	probably benign	Het
Slc28a2b	T	C	2: 122,344,895 (GRCm39)	L167P	possibly damaging	Het
Stau1	T	C	2: 166,796,936 (GRCm39)	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922 (GRCm39)	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,042,053 (GRCm39)	I221V	probably benign	Het
Wdr93	T	C	7: 79,402,241 (GRCm39)	I180T	possibly damaging	Het
Whamm	G	C	7: 81,221,532 (GRCm39)	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,235,140 (GRCm39)	Y41*	probably null	Het

Other mutations in Ebf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02645:Ebf4	APN	2	130,203,761 (GRCm39)	missense	probably damaging	1.00
R0313:Ebf4	UTSW	2	130,148,707 (GRCm39)	splice site	probably benign
R1014:Ebf4	UTSW	2	130,207,388 (GRCm39)	missense	probably benign	0.05
R1542:Ebf4	UTSW	2	130,207,418 (GRCm39)	missense	probably benign	0.03
R1711:Ebf4	UTSW	2	130,200,751 (GRCm39)	missense	probably damaging	1.00
R2509:Ebf4	UTSW	2	130,148,482 (GRCm39)	nonsense	probably null
R4821:Ebf4	UTSW	2	130,148,965 (GRCm39)	missense	probably benign	0.37
R5974:Ebf4	UTSW	2	130,207,484 (GRCm39)	missense	probably damaging	0.99
R6084:Ebf4	UTSW	2	130,151,643 (GRCm39)	missense	probably damaging	1.00
R7102:Ebf4	UTSW	2	130,151,651 (GRCm39)	missense	probably benign	0.03
R9377:Ebf4	UTSW	2	130,148,775 (GRCm39)	missense	probably damaging	1.00
R9437:Ebf4	UTSW	2	130,202,005 (GRCm39)	missense	probably benign	0.06
X0028:Ebf4	UTSW	2	130,203,908 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACGCTTGGCATGTCAAAGTC -3'
(R):5'- AGGGTTCAGTGCCTTCAACC -3'

Sequencing Primer
(F):5'- TCAAAGTCTAGTCCTGGTCAGAGC -3'
(R):5'- ACACATCTACCATTTATCCACTCATC -3'

Posted On

2015-02-05