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: 0.850) question?

Stock #

R0230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44617317-45008091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44996122 bp (GRCm38)

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
9530053A07Rik	T	A	7: 28,156,825	H2012Q	probably damaging	Het
Amy1	T	C	3: 113,558,430	D371G	probably benign	Het
Asrgl1	T	A	19: 9,118,519		probably benign	Het
Asxl3	T	A	18: 22,452,326		probably benign	Het
B3galnt1	T	C	3: 69,575,340	N196S	possibly damaging	Het
Bbof1	A	G	12: 84,425,204	H74R	probably damaging	Het
Bpifb9b	C	T	2: 154,317,075	T504M	probably damaging	Het
Cdk12	T	G	11: 98,203,991	S208R	probably damaging	Het
Cdk5r1	T	C	11: 80,477,750	L81P	probably damaging	Het
Chrd	T	C	16: 20,733,275	L43P	probably benign	Het
Col6a4	A	C	9: 106,072,366	M690R	probably benign	Het
Cyp39a1	A	T	17: 43,732,012	R418W	probably damaging	Het
Dars2	C	T	1: 161,062,787	V162M	probably benign	Het
Dixdc1	C	T	9: 50,695,507	V270M	possibly damaging	Het
Dnah11	C	A	12: 117,983,056	E1194*	probably null	Het
Dnah7b	T	C	1: 46,219,348	S1900P	probably damaging	Het
Dnah9	C	T	11: 65,855,315	E3991K	probably damaging	Het
Dsp	A	T	13: 38,197,705	I2210F	probably benign	Het
Enam	G	A	5: 88,489,655		probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Epc1	T	C	18: 6,440,168	D579G	probably damaging	Het
Ephb3	A	T	16: 21,220,775	I426F	probably damaging	Het
Fam135b	T	G	15: 71,446,037	I1359L	probably benign	Het
Gm16519	T	C	17: 70,929,133	S26P	probably benign	Het
Gm17622	T	A	13: 96,491,086		probably null	Het
Gpat2	G	A	2: 127,435,845	V764I	possibly damaging	Het
Gpx4	G	A	10: 80,055,004	A81T	probably benign	Het
Gss	C	A	2: 155,578,406	R83L	probably damaging	Het
Hcls1	C	A	16: 36,937,854	Q36K	probably damaging	Het
Hepacam2	A	G	6: 3,463,336	V438A	probably benign	Het
Hnf4a	T	C	2: 163,559,085	F184S	probably damaging	Het
Katnal1	T	A	5: 148,918,650	D90V	possibly damaging	Het
Kcnt2	A	G	1: 140,246,345	D30G	probably benign	Het
Kyat1	T	C	2: 30,194,075	E11G	probably benign	Het
Lefty1	T	A	1: 180,937,014	V168E	probably damaging	Het
Map2k6	C	T	11: 110,496,455	P218S	probably damaging	Het
Mlkl	C	G	8: 111,315,062	K415N	probably benign	Het
Myh7	A	T	14: 54,973,933	M1593K	probably benign	Het
Myo19	T	A	11: 84,893,333	C186S	possibly damaging	Het
Ngp	T	C	9: 110,420,001	L47P	probably damaging	Het
Nkiras1	A	G	14: 18,280,185	N192S	probably benign	Het
Olfr1044	T	C	2: 86,171,542	I92V	probably benign	Het
Olfr134	A	G	17: 38,175,950	I289V	probably damaging	Het
Olfr346	G	A	2: 36,688,616	V205M	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pdcd6ip	A	G	9: 113,685,293		probably benign	Het
Pde4b	T	C	4: 102,597,510	Y186H	probably benign	Het
Pex7	A	G	10: 19,904,585	V101A	possibly damaging	Het
Phldb3	G	A	7: 24,612,579	R106Q	probably benign	Het
Plxnc1	A	G	10: 94,799,347	V1339A	probably benign	Het
Proser1	A	G	3: 53,478,962	N755S	probably damaging	Het
Ptpn13	A	G	5: 103,527,131	D658G	probably damaging	Het
Rassf8	A	C	6: 145,819,974		probably benign	Het
Rfc4	G	A	16: 23,114,099	Q363*	probably null	Het
Rxfp1	T	C	3: 79,644,975	N673S	probably damaging	Het
Scn7a	T	C	2: 66,726,284	E319G	probably damaging	Het
Scnn1g	A	G	7: 121,746,761		probably benign	Het
Scube2	C	T	7: 109,824,764		probably null	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc6a13	A	G	6: 121,324,303	N184D	probably benign	Het
Slco1a5	T	A	6: 142,236,328		probably benign	Het
Slf1	T	A	13: 77,112,748		probably benign	Het
Smarca4	G	A	9: 21,700,872	V1518I	probably damaging	Het
Smyd3	A	G	1: 179,423,428		probably benign	Het
Sox5	A	G	6: 144,209,338	F11L	probably benign	Het
Spag17	T	C	3: 100,106,827	S2139P	probably benign	Het
Spice1	A	T	16: 44,365,576		probably benign	Het
Sptan1	T	A	2: 30,010,692		probably benign	Het
Srebf2	T	A	15: 82,182,085	N571K	probably damaging	Het
Tbl3	A	G	17: 24,701,333	L670P	probably damaging	Het
Tmem45a2	A	G	16: 57,046,996	V114A	possibly damaging	Het
Tmigd3	A	G	3: 105,918,737	N132D	possibly damaging	Het
Ttn	T	C	2: 76,737,434	D19378G	probably damaging	Het
Ugcg	C	A	4: 59,189,739	Y32*	probably null	Het
Ush2a	C	T	1: 188,850,104	P3788L	probably damaging	Het
Usp22	T	A	11: 61,159,197		probably benign	Het
Xaf1	T	C	11: 72,306,555		probably benign	Het
Zbtb41	C	T	1: 139,446,935	T711I	probably damaging	Het
Zfp457	T	C	13: 67,294,116	T132A	possibly damaging	Het
Zfp64	T	G	2: 168,912,230		probably benign	Het

Other mutations in Ebf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Ebf1	APN	11	44,869,100 (GRCm38)	missense	probably damaging	1.00
IGL02228:Ebf1	APN	11	44,972,912 (GRCm38)	missense	probably damaging	1.00
IGL02430:Ebf1	APN	11	44,924,576 (GRCm38)	critical splice donor site	probably null
Befuddled	UTSW	11	44,632,775 (GRCm38)	missense	probably damaging	0.98
Catastrophic	UTSW	11	44,883,885 (GRCm38)	missense	probably damaging	1.00
Crabapple	UTSW	11	44,883,839 (GRCm38)	missense	probably damaging	1.00
Crater_lake	UTSW	11	44,972,908 (GRCm38)	nonsense	probably null
ebby	UTSW	11	44,883,814 (GRCm38)	missense	probably damaging	1.00
Oregano	UTSW	11	44,869,169 (GRCm38)	missense	probably damaging	1.00
Oregano2	UTSW	11	44,990,504 (GRCm38)	splice site	probably null
Realtor	UTSW	11	44,620,547 (GRCm38)	missense	probably benign	0.05
Vie	UTSW	11	44,972,915 (GRCm38)	missense	probably damaging	1.00
R0102:Ebf1	UTSW	11	44,991,455 (GRCm38)	missense	probably benign	0.02
R0102:Ebf1	UTSW	11	44,991,455 (GRCm38)	missense	probably benign	0.02
R0141:Ebf1	UTSW	11	44,908,000 (GRCm38)	missense	probably damaging	1.00
R0243:Ebf1	UTSW	11	44,869,088 (GRCm38)	splice site	probably benign
R0268:Ebf1	UTSW	11	44,643,413 (GRCm38)	missense	probably damaging	0.96
R0414:Ebf1	UTSW	11	44,924,470 (GRCm38)	nonsense	probably null
R0648:Ebf1	UTSW	11	44,991,510 (GRCm38)	missense	probably damaging	0.99
R0765:Ebf1	UTSW	11	44,869,160 (GRCm38)	missense	probably damaging	0.97
R1055:Ebf1	UTSW	11	44,632,775 (GRCm38)	missense	probably damaging	0.98
R1432:Ebf1	UTSW	11	45,004,706 (GRCm38)	splice site	probably benign
R1713:Ebf1	UTSW	11	44,924,566 (GRCm38)	missense	probably damaging	1.00
R1749:Ebf1	UTSW	11	44,908,008 (GRCm38)	missense	possibly damaging	0.68
R1989:Ebf1	UTSW	11	44,621,966 (GRCm38)	missense	probably damaging	0.97
R2405:Ebf1	UTSW	11	44,991,522 (GRCm38)	missense	probably damaging	0.98
R3110:Ebf1	UTSW	11	44,643,398 (GRCm38)	splice site	probably benign
R4538:Ebf1	UTSW	11	44,907,995 (GRCm38)	missense	probably benign	0.07
R4666:Ebf1	UTSW	11	44,991,557 (GRCm38)	missense	probably damaging	0.99
R4855:Ebf1	UTSW	11	44,972,908 (GRCm38)	nonsense	probably null
R4904:Ebf1	UTSW	11	44,869,169 (GRCm38)	missense	probably damaging	1.00
R5137:Ebf1	UTSW	11	44,991,468 (GRCm38)	missense	probably damaging	1.00
R5569:Ebf1	UTSW	11	44,992,401 (GRCm38)	missense	possibly damaging	0.82
R5849:Ebf1	UTSW	11	44,990,504 (GRCm38)	splice site	probably null
R5940:Ebf1	UTSW	11	44,621,221 (GRCm38)	missense	probably damaging	1.00
R5989:Ebf1	UTSW	11	44,996,171 (GRCm38)	missense	probably damaging	1.00
R6170:Ebf1	UTSW	11	44,883,885 (GRCm38)	missense	probably damaging	1.00
R6512:Ebf1	UTSW	11	44,992,341 (GRCm38)	missense	probably damaging	1.00
R6747:Ebf1	UTSW	11	44,883,814 (GRCm38)	missense	probably damaging	1.00
R7031:Ebf1	UTSW	11	44,621,968 (GRCm38)	missense	possibly damaging	0.95
R7042:Ebf1	UTSW	11	44,991,511 (GRCm38)	missense	probably damaging	0.99
R8065:Ebf1	UTSW	11	44,620,547 (GRCm38)	missense	probably benign	0.05
R8067:Ebf1	UTSW	11	44,620,547 (GRCm38)	missense	probably benign	0.05
R8125:Ebf1	UTSW	11	44,972,915 (GRCm38)	missense	probably damaging	1.00
R8413:Ebf1	UTSW	11	44,643,447 (GRCm38)	missense	possibly damaging	0.92
R8863:Ebf1	UTSW	11	44,883,839 (GRCm38)	missense	probably damaging	1.00
R9178:Ebf1	UTSW	11	45,004,721 (GRCm38)	missense	probably benign	0.20
R9178:Ebf1	UTSW	11	44,992,449 (GRCm38)	missense	probably benign	0.04
R9511:Ebf1	UTSW	11	44,924,566 (GRCm38)	missense	probably benign	0.03
R9603:Ebf1	UTSW	11	44,618,179 (GRCm38)	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