Mutagenetix > Incidental Mutation

Incidental Mutation 'R0230:Ebf1'

34065

Institutional Source

Beutler Lab

Gene Symbol

Ebf1

Ensembl Gene

ENSMUSG00000057098

Gene Name

early B cell factor 1

Synonyms

Olf1, O/E-1, Olf-1

MMRRC Submission

038473-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R0230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44508144-44898918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44886949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 556 (S556G)

Ref Sequence

ENSEMBL: ENSMUSP00000080020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081265] [ENSMUST00000101326] [ENSMUST00000109268]

AlphaFold

Q07802

PDB Structure

DNA binding domain of Early B-cell Factor 1 (Ebf1) bound to DNA (crystal form II) [X-RAY DIFFRACTION]
DNA binding domain of Early B-cell Factor 1 (Ebf1) bound to DNA (Crystal form I) [X-RAY DIFFRACTION]
Early B-cell Factor 1 (Ebf1) bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000081265
AA Change: S556G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: S556G

Domain	Start	End	E-Value	Type
IPT	261	345	7.38e-8	SMART
HLH	346	395	5.4e-2	SMART
low complexity region	526	544	N/A	INTRINSIC
low complexity region	564	575	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101326
AA Change: S557G

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

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: S557G

Domain	Start	End	E-Value	Type
Pfam:COE1_DBD	17	247	8e-150	PFAM
IPT	262	346	7.38e-8	SMART
HLH	347	396	5.4e-2	SMART
low complexity region	527	545	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109268
AA Change: S549G

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

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: S549G

Domain	Start	End	E-Value	Type
IPT	254	338	7.38e-8	SMART
HLH	339	388	5.4e-2	SMART
low complexity region	519	537	N/A	INTRINSIC
low complexity region	557	568	N/A	INTRINSIC

Meta Mutation Damage Score

0.4466

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

100% (83/83)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy1	T	C	3: 113,352,079 (GRCm39)	D371G	probably benign	Het
Asrgl1	T	A	19: 9,095,883 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,585,383 (GRCm39)		probably benign	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,471,978 (GRCm39)	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,158,995 (GRCm39)	T504M	probably damaging	Het
Cdk12	T	G	11: 98,094,817 (GRCm39)	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,368,576 (GRCm39)	L81P	probably damaging	Het
Chrd	T	C	16: 20,552,025 (GRCm39)	L43P	probably benign	Het
Col6a4	A	C	9: 105,949,565 (GRCm39)	M690R	probably benign	Het
Cyp39a1	A	T	17: 44,042,903 (GRCm39)	R418W	probably damaging	Het
Dars2	C	T	1: 160,890,357 (GRCm39)	V162M	probably benign	Het
Dixdc1	C	T	9: 50,606,807 (GRCm39)	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,946,791 (GRCm39)	E1194*	probably null	Het
Dnah7b	T	C	1: 46,258,508 (GRCm39)	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,746,141 (GRCm39)	E3991K	probably damaging	Het
Dsp	A	T	13: 38,381,681 (GRCm39)	I2210F	probably benign	Het
Enam	G	A	5: 88,637,514 (GRCm39)		probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Epc1	T	C	18: 6,440,168 (GRCm39)	D579G	probably damaging	Het
Ephb3	A	T	16: 21,039,525 (GRCm39)	I426F	probably damaging	Het
Fam135b	T	G	15: 71,317,886 (GRCm39)	I1359L	probably benign	Het
Fcgbpl1	T	A	7: 27,856,250 (GRCm39)	H2012Q	probably damaging	Het
Gm16519	T	C	17: 71,236,128 (GRCm39)	S26P	probably benign	Het
Gm17622	T	A	13: 96,627,594 (GRCm39)		probably null	Het
Gpat2	G	A	2: 127,277,765 (GRCm39)	V764I	possibly damaging	Het
Gpx4	G	A	10: 79,890,838 (GRCm39)	A81T	probably benign	Het
Gss	C	A	2: 155,420,326 (GRCm39)	R83L	probably damaging	Het
Hcls1	C	A	16: 36,758,216 (GRCm39)	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336 (GRCm39)	V438A	probably benign	Het
Hnf4a	T	C	2: 163,401,005 (GRCm39)	F184S	probably damaging	Het
Katnal1	T	A	5: 148,855,460 (GRCm39)	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,174,083 (GRCm39)	D30G	probably benign	Het
Kyat1	T	C	2: 30,084,087 (GRCm39)	E11G	probably benign	Het
Lefty1	T	A	1: 180,764,579 (GRCm39)	V168E	probably damaging	Het
Map2k6	C	T	11: 110,387,281 (GRCm39)	P218S	probably damaging	Het
Mlkl	C	G	8: 112,041,694 (GRCm39)	K415N	probably benign	Het
Myh7	A	T	14: 55,211,390 (GRCm39)	M1593K	probably benign	Het
Myo19	T	A	11: 84,784,159 (GRCm39)	C186S	possibly damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185 (GRCm38)	N192S	probably benign	Het
Or1j17	G	A	2: 36,578,628 (GRCm39)	V205M	probably benign	Het
Or2n1	A	G	17: 38,486,841 (GRCm39)	I289V	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8u9	T	C	2: 86,001,886 (GRCm39)	I92V	probably benign	Het
Pdcd6ip	A	G	9: 113,514,361 (GRCm39)		probably benign	Het
Pde4b	T	C	4: 102,454,707 (GRCm39)	Y186H	probably benign	Het
Pex7	A	G	10: 19,780,331 (GRCm39)	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,635,209 (GRCm39)	V1339A	probably benign	Het
Proser1	A	G	3: 53,386,383 (GRCm39)	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,674,997 (GRCm39)	D658G	probably damaging	Het
Rassf8	A	C	6: 145,765,700 (GRCm39)		probably benign	Het
Rfc4	G	A	16: 22,932,849 (GRCm39)	Q363*	probably null	Het
Rxfp1	T	C	3: 79,552,282 (GRCm39)	N673S	probably damaging	Het
Scn7a	T	C	2: 66,556,628 (GRCm39)	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,345,984 (GRCm39)		probably benign	Het
Scube2	C	T	7: 109,423,971 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,301,262 (GRCm39)	N184D	probably benign	Het
Slco1a5	T	A	6: 142,182,054 (GRCm39)		probably benign	Het
Slf1	T	A	13: 77,260,867 (GRCm39)		probably benign	Het
Smarca4	G	A	9: 21,612,168 (GRCm39)	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,250,993 (GRCm39)		probably benign	Het
Sox5	A	G	6: 144,155,064 (GRCm39)	F11L	probably benign	Het
Spag17	T	C	3: 100,014,143 (GRCm39)	S2139P	probably benign	Het
Spice1	A	T	16: 44,185,939 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,900,704 (GRCm39)		probably benign	Het
Srebf2	T	A	15: 82,066,286 (GRCm39)	N571K	probably damaging	Het
Tbl3	A	G	17: 24,920,307 (GRCm39)	L670P	probably damaging	Het
Tmem45a2	A	G	16: 56,867,359 (GRCm39)	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,826,053 (GRCm39)	N132D	possibly damaging	Het
Ttn	T	C	2: 76,567,778 (GRCm39)	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739 (GRCm39)	Y32*	probably null	Het
Ush2a	C	T	1: 188,582,301 (GRCm39)	P3788L	probably damaging	Het
Usp22	T	A	11: 61,050,023 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,197,381 (GRCm39)		probably benign	Het
Zbtb41	C	T	1: 139,374,673 (GRCm39)	T711I	probably damaging	Het
Zfp457	T	C	13: 67,442,180 (GRCm39)	T132A	possibly damaging	Het
Zfp64	T	G	2: 168,754,150 (GRCm39)		probably benign	Het

Other mutations in Ebf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Ebf1	APN	11	44,759,927 (GRCm39)	missense	probably damaging	1.00
IGL02228:Ebf1	APN	11	44,863,739 (GRCm39)	missense	probably damaging	1.00
IGL02430:Ebf1	APN	11	44,815,403 (GRCm39)	critical splice donor site	probably null
Befuddled	UTSW	11	44,523,602 (GRCm39)	missense	probably damaging	0.98
Catastrophic	UTSW	11	44,774,712 (GRCm39)	missense	probably damaging	1.00
Crabapple	UTSW	11	44,774,666 (GRCm39)	missense	probably damaging	1.00
Crater_lake	UTSW	11	44,863,735 (GRCm39)	nonsense	probably null
ebby	UTSW	11	44,774,641 (GRCm39)	missense	probably damaging	1.00
Oregano	UTSW	11	44,759,996 (GRCm39)	missense	probably damaging	1.00
Oregano2	UTSW	11	44,881,331 (GRCm39)	splice site	probably null
Realtor	UTSW	11	44,511,374 (GRCm39)	missense	probably benign	0.05
Vie	UTSW	11	44,863,742 (GRCm39)	missense	probably damaging	1.00
R0102:Ebf1	UTSW	11	44,882,282 (GRCm39)	missense	probably benign	0.02
R0102:Ebf1	UTSW	11	44,882,282 (GRCm39)	missense	probably benign	0.02
R0141:Ebf1	UTSW	11	44,798,827 (GRCm39)	missense	probably damaging	1.00
R0243:Ebf1	UTSW	11	44,759,915 (GRCm39)	splice site	probably benign
R0268:Ebf1	UTSW	11	44,534,240 (GRCm39)	missense	probably damaging	0.96
R0414:Ebf1	UTSW	11	44,815,297 (GRCm39)	nonsense	probably null
R0648:Ebf1	UTSW	11	44,882,337 (GRCm39)	missense	probably damaging	0.99
R0765:Ebf1	UTSW	11	44,759,987 (GRCm39)	missense	probably damaging	0.97
R1055:Ebf1	UTSW	11	44,523,602 (GRCm39)	missense	probably damaging	0.98
R1432:Ebf1	UTSW	11	44,895,533 (GRCm39)	splice site	probably benign
R1713:Ebf1	UTSW	11	44,815,393 (GRCm39)	missense	probably damaging	1.00
R1749:Ebf1	UTSW	11	44,798,835 (GRCm39)	missense	possibly damaging	0.68
R1989:Ebf1	UTSW	11	44,512,793 (GRCm39)	missense	probably damaging	0.97
R2405:Ebf1	UTSW	11	44,882,349 (GRCm39)	missense	probably damaging	0.98
R3110:Ebf1	UTSW	11	44,534,225 (GRCm39)	splice site	probably benign
R4538:Ebf1	UTSW	11	44,798,822 (GRCm39)	missense	probably benign	0.07
R4666:Ebf1	UTSW	11	44,882,384 (GRCm39)	missense	probably damaging	0.99
R4855:Ebf1	UTSW	11	44,863,735 (GRCm39)	nonsense	probably null
R4904:Ebf1	UTSW	11	44,759,996 (GRCm39)	missense	probably damaging	1.00
R5137:Ebf1	UTSW	11	44,882,295 (GRCm39)	missense	probably damaging	1.00
R5569:Ebf1	UTSW	11	44,883,228 (GRCm39)	missense	possibly damaging	0.82
R5849:Ebf1	UTSW	11	44,881,331 (GRCm39)	splice site	probably null
R5940:Ebf1	UTSW	11	44,512,048 (GRCm39)	missense	probably damaging	1.00
R5989:Ebf1	UTSW	11	44,886,998 (GRCm39)	missense	probably damaging	1.00
R6170:Ebf1	UTSW	11	44,774,712 (GRCm39)	missense	probably damaging	1.00
R6512:Ebf1	UTSW	11	44,883,168 (GRCm39)	missense	probably damaging	1.00
R6747:Ebf1	UTSW	11	44,774,641 (GRCm39)	missense	probably damaging	1.00
R7031:Ebf1	UTSW	11	44,512,795 (GRCm39)	missense	possibly damaging	0.95
R7042:Ebf1	UTSW	11	44,882,338 (GRCm39)	missense	probably damaging	0.99
R8065:Ebf1	UTSW	11	44,511,374 (GRCm39)	missense	probably benign	0.05
R8067:Ebf1	UTSW	11	44,511,374 (GRCm39)	missense	probably benign	0.05
R8125:Ebf1	UTSW	11	44,863,742 (GRCm39)	missense	probably damaging	1.00
R8413:Ebf1	UTSW	11	44,534,274 (GRCm39)	missense	possibly damaging	0.92
R8863:Ebf1	UTSW	11	44,774,666 (GRCm39)	missense	probably damaging	1.00
R9178:Ebf1	UTSW	11	44,895,548 (GRCm39)	missense	probably benign	0.20
R9178:Ebf1	UTSW	11	44,883,276 (GRCm39)	missense	probably benign	0.04
R9511:Ebf1	UTSW	11	44,815,393 (GRCm39)	missense	probably benign	0.03
R9603:Ebf1	UTSW	11	44,509,006 (GRCm39)	start codon destroyed	probably null	0.07

Predicted Primers

PCR Primer
(F):5'- TGCCCAAGAATGGTCAACAGCAG -3'
(R):5'- TGAGTGACCTACTTCAGGGGAAGG -3'

Sequencing Primer
(F):5'- AGAGTAGCCAGGTCAGACCTC -3'
(R):5'- ATAGTGTTCTCCAGCAAGGC -3'

Posted On

2013-05-09