Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Ebf1'

263836

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

040584-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44617317-45008091 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 44643398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104891 (fasta)

Gene Model

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

AlphaFold

Q07802

Predicted Effect

probably benign
Transcript: ENSMUST00000081265

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098

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 benign
Transcript: ENSMUST00000101326

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098

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 benign
Transcript: ENSMUST00000109268

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149997

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Ebf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Ebf1	APN	11	44869100	missense	probably damaging	1.00
IGL02228:Ebf1	APN	11	44972912	missense	probably damaging	1.00
IGL02430:Ebf1	APN	11	44924576	critical splice donor site	probably null
Befuddled	UTSW	11	44632775	missense	probably damaging	0.98
Catastrophic	UTSW	11	44883885	missense	probably damaging	1.00
Crabapple	UTSW	11	44883839	missense	probably damaging	1.00
Crater_lake	UTSW	11	44972908	nonsense	probably null
ebby	UTSW	11	44883814	missense	probably damaging	1.00
Oregano	UTSW	11	44869169	missense	probably damaging	1.00
Oregano2	UTSW	11	44990504	splice site	probably null
Realtor	UTSW	11	44620547	missense	probably benign	0.05
Vie	UTSW	11	44972915	missense	probably damaging	1.00
R0102:Ebf1	UTSW	11	44991455	missense	probably benign	0.02
R0102:Ebf1	UTSW	11	44991455	missense	probably benign	0.02
R0141:Ebf1	UTSW	11	44908000	missense	probably damaging	1.00
R0230:Ebf1	UTSW	11	44996122	missense	probably damaging	1.00
R0243:Ebf1	UTSW	11	44869088	splice site	probably benign
R0268:Ebf1	UTSW	11	44643413	missense	probably damaging	0.96
R0414:Ebf1	UTSW	11	44924470	nonsense	probably null
R0648:Ebf1	UTSW	11	44991510	missense	probably damaging	0.99
R0765:Ebf1	UTSW	11	44869160	missense	probably damaging	0.97
R1055:Ebf1	UTSW	11	44632775	missense	probably damaging	0.98
R1432:Ebf1	UTSW	11	45004706	splice site	probably benign
R1713:Ebf1	UTSW	11	44924566	missense	probably damaging	1.00
R1749:Ebf1	UTSW	11	44908008	missense	possibly damaging	0.68
R1989:Ebf1	UTSW	11	44621966	missense	probably damaging	0.97
R2405:Ebf1	UTSW	11	44991522	missense	probably damaging	0.98
R4538:Ebf1	UTSW	11	44907995	missense	probably benign	0.07
R4666:Ebf1	UTSW	11	44991557	missense	probably damaging	0.99
R4855:Ebf1	UTSW	11	44972908	nonsense	probably null
R4904:Ebf1	UTSW	11	44869169	missense	probably damaging	1.00
R5137:Ebf1	UTSW	11	44991468	missense	probably damaging	1.00
R5569:Ebf1	UTSW	11	44992401	missense	possibly damaging	0.82
R5849:Ebf1	UTSW	11	44990504	splice site	probably null
R5940:Ebf1	UTSW	11	44621221	missense	probably damaging	1.00
R5989:Ebf1	UTSW	11	44996171	missense	probably damaging	1.00
R6170:Ebf1	UTSW	11	44883885	missense	probably damaging	1.00
R6512:Ebf1	UTSW	11	44992341	missense	probably damaging	1.00
R6747:Ebf1	UTSW	11	44883814	missense	probably damaging	1.00
R7031:Ebf1	UTSW	11	44621968	missense	possibly damaging	0.95
R7042:Ebf1	UTSW	11	44991511	missense	probably damaging	0.99
R8065:Ebf1	UTSW	11	44620547	missense	probably benign	0.05
R8067:Ebf1	UTSW	11	44620547	missense	probably benign	0.05
R8125:Ebf1	UTSW	11	44972915	missense	probably damaging	1.00
R8413:Ebf1	UTSW	11	44643447	missense	possibly damaging	0.92
R8863:Ebf1	UTSW	11	44883839	missense	probably damaging	1.00
R9178:Ebf1	UTSW	11	44992449	missense	probably benign	0.04
R9178:Ebf1	UTSW	11	45004721	missense	probably benign	0.20
R9511:Ebf1	UTSW	11	44924566	missense	probably benign	0.03
R9603:Ebf1	UTSW	11	44618179	start codon destroyed	probably null	0.07

Predicted Primers

PCR Primer
(F):5'- GGCCATTAACCCCTAAGTGACC -3'
(R):5'- AATCACAATCTCTCGGCGG -3'

Sequencing Primer
(F):5'- GTGACCCAAATAGAGTTTTCTGTCC -3'
(R):5'- CGCAGTGTAAGTCAGGACC -3'

Posted On

2015-02-05