Mutagenetix > Incidental Mutation

Incidental Mutation 'R4821:Ebf4'

370203

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

042437-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R4821 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

130137089-130212401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130148965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 232 (M232I)

Ref Sequence

ENSEMBL: ENSMUSP00000105917 (fasta)

Gene Model

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

AlphaFold

Q8K4J2

Predicted Effect

probably benign
Transcript: ENSMUST00000110286
AA Change: M135I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
AA Change: M135I

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 benign
Transcript: ENSMUST00000110287
AA Change: M135I

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
AA Change: M135I

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 benign
Transcript: ENSMUST00000110288
AA Change: M232I

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
AA Change: M232I

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 benign
Transcript: ENSMUST00000126740
AA Change: M135I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
AA Change: M135I

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 benign
Transcript: ENSMUST00000140169
AA Change: M135I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134520
Gene: ENSMUSG00000053552
AA Change: M135I

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

0.1027

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (79/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,871 (GRCm39)	K150R	probably damaging	Het
Aak1	T	C	6: 86,827,171 (GRCm39)	V46A	probably damaging	Het
Abcb9	T	C	5: 124,228,212 (GRCm39)	T10A	probably benign	Het
Acaca	A	G	11: 84,185,813 (GRCm39)	D116G	possibly damaging	Het
Adam33	G	A	2: 130,903,115 (GRCm39)	P43L	probably benign	Het
Adamtsl2	T	A	2: 26,988,604 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,327,255 (GRCm39)		probably benign	Het
Art1	T	A	7: 101,756,385 (GRCm39)	L192Q	probably damaging	Het
Baalc	A	G	15: 38,796,575 (GRCm39)		probably benign	Het
Baz2a	A	G	10: 127,946,978 (GRCm39)	E164G	probably damaging	Het
Bcs1l	A	G	1: 74,631,144 (GRCm39)	I391V	probably benign	Het
Cacna1c	T	C	6: 118,673,386 (GRCm39)	T497A	probably damaging	Het
Cap2	C	A	13: 46,763,586 (GRCm39)	T164N	probably damaging	Het
Ccdc57	A	G	11: 120,751,225 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,904,338 (GRCm39)	N1120S	probably benign	Het
Cfap210	T	C	2: 69,612,452 (GRCm39)	E96G	possibly damaging	Het
Chd7	T	A	4: 8,844,706 (GRCm39)	V1605D	probably damaging	Het
Col12a1	A	T	9: 79,622,622 (GRCm39)		probably benign	Het
Commd3	T	C	2: 18,677,339 (GRCm39)	S22P	probably benign	Het
Cpd	T	C	11: 76,737,063 (GRCm39)	I244V	probably benign	Het
Cpeb2	C	A	5: 43,390,817 (GRCm39)		probably benign	Het
Cyp2c65	A	G	19: 39,060,635 (GRCm39)	D165G	probably damaging	Het
Ddx1	T	C	12: 13,289,148 (GRCm39)	Y152C	probably damaging	Het
Dennd4a	G	A	9: 64,804,531 (GRCm39)	C1290Y	possibly damaging	Het
Farp2	A	G	1: 93,502,192 (GRCm39)		probably null	Het
Frk	T	C	10: 34,360,233 (GRCm39)	V78A	probably benign	Het
Gm5799	A	G	14: 43,782,098 (GRCm39)	D90G	probably damaging	Het
Gpr45	C	G	1: 43,069,613 (GRCm39)		probably benign	Het
Hfm1	C	T	5: 107,002,606 (GRCm39)		probably null	Het
Igkv4-57-1	T	A	6: 69,521,387 (GRCm39)	D105V	probably damaging	Het
Impdh2-ps	A	G	8: 100,757,995 (GRCm39)		noncoding transcript	Het
Kctd4	G	A	14: 76,200,217 (GRCm39)	V63I	probably benign	Het
Lcn6	T	A	2: 25,570,822 (GRCm39)	L137M	probably damaging	Het
Lonrf1	T	C	8: 36,687,126 (GRCm39)	N737D	probably benign	Het
Mcu	C	T	10: 59,303,511 (GRCm39)	V109M	probably damaging	Het
Mecom	C	A	3: 30,039,500 (GRCm39)	K186N	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Mybpc1	T	C	10: 88,384,727 (GRCm39)	D533G	probably damaging	Het
Nae1	A	C	8: 105,246,416 (GRCm39)	C294G	probably damaging	Het
Ncapg2	T	G	12: 116,379,077 (GRCm39)	H190Q	probably damaging	Het
Nkx2-2	A	T	2: 147,027,763 (GRCm39)	L59Q	possibly damaging	Het
Nrxn3	C	T	12: 90,171,483 (GRCm39)	T295I	probably damaging	Het
Obscn	C	T	11: 58,897,652 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,931,293 (GRCm39)	M5781K	probably damaging	Het
Or11g24	A	G	14: 50,662,206 (GRCm39)	T77A	possibly damaging	Het
Or4k39	T	C	2: 111,239,570 (GRCm39)		noncoding transcript	Het
Or4z4	T	A	19: 12,076,110 (GRCm39)	M298L	probably benign	Het
Pcdhb6	C	A	18: 37,467,381 (GRCm39)	P101T	probably damaging	Het
Pot1b	A	G	17: 55,979,885 (GRCm39)	S324P	possibly damaging	Het
Potefam1	T	C	2: 111,034,490 (GRCm39)		probably null	Het
Ppcdc	C	T	9: 57,342,194 (GRCm39)	V43I	probably benign	Het
Prr13	A	T	15: 102,369,120 (GRCm39)		probably benign	Het
Rab10os	T	A	12: 3,287,322 (GRCm39)		noncoding transcript	Het
Rabgap1	T	C	2: 37,422,531 (GRCm39)	S595P	probably damaging	Het
Rap1gap	T	C	4: 137,439,440 (GRCm39)	S126P	probably damaging	Het
Rgs6	A	T	12: 83,114,185 (GRCm39)		probably null	Het
Slc5a6	T	A	5: 31,194,228 (GRCm39)	K610*	probably null	Het
Sun5	C	T	2: 153,711,386 (GRCm39)	V27I	probably benign	Het
Tmco5b	T	C	2: 113,120,102 (GRCm39)	I126T	probably benign	Het
Tmed7	G	A	18: 46,726,480 (GRCm39)	Q92*	probably null	Het
Trav7d-2	A	G	14: 52,921,885 (GRCm39)	D98G	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Ush2a	T	C	1: 188,485,848 (GRCm39)	V2986A	probably benign	Het
Usp33	T	C	3: 152,064,310 (GRCm39)	V58A	probably benign	Het
Vmn2r94	T	A	17: 18,477,293 (GRCm39)	M373L	probably benign	Het
Ywhaq	T	C	12: 21,467,512 (GRCm39)		probably benign	Het
Zbbx	G	A	3: 74,989,054 (GRCm39)	H345Y	possibly damaging	Het
Zfp346	G	T	13: 55,261,626 (GRCm39)		probably benign	Het
Zfp616	C	T	11: 73,975,033 (GRCm39)	A434V	probably benign	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	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
R3078:Ebf4	UTSW	2	130,148,419 (GRCm39)	missense	probably damaging	1.00
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'- GGTAAGCAAAGCCTGGGTAC -3'
(R):5'- TCCCCTTTGCAGTTAGTGATGATG -3'

Sequencing Primer
(F):5'- GTACCGCAGCATCCTGAGAC -3'
(R):5'- TTAGGCATGGTCCCTAGCCAATG -3'

Posted On

2016-02-04