Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Ebf1'

435548

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

043126-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44508144-44898918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44883228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 489 (M489V)

Ref Sequence

ENSEMBL: ENSMUSP00000099857 (fasta)

Gene Model

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

AlphaFold

Q07802

Predicted Effect

probably benign
Transcript: ENSMUST00000081265
AA Change: M488V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: M488V

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

possibly damaging
Transcript: ENSMUST00000101326
AA Change: M489V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: M489V

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

possibly damaging
Transcript: ENSMUST00000109268
AA Change: M481V

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: M481V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Ackr3	A	G	1: 90,142,563 (GRCm39)	T341A	probably benign	Het
Acox3	A	G	5: 35,760,377 (GRCm39)	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 26,992,845 (GRCm39)	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007 (GRCm39)	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,460,206 (GRCm39)	D495V	probably damaging	Het
Atm	A	T	9: 53,427,750 (GRCm39)	Y453*	probably null	Het
Atpaf2	A	T	11: 60,307,706 (GRCm39)	W11R	probably damaging	Het
Bhmt1b	A	C	18: 87,775,392 (GRCm39)	Y305S	probably damaging	Het
Capn1	T	A	19: 6,063,690 (GRCm39)	T129S	probably benign	Het
Catspere2	A	T	1: 177,939,162 (GRCm39)	K678N	possibly damaging	Het
Cdh17	A	G	4: 11,816,990 (GRCm39)	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892 (GRCm39)	R69Q	probably damaging	Het
Cp	T	C	3: 20,033,041 (GRCm39)	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,386,975 (GRCm39)	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,342,838 (GRCm39)	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,617,388 (GRCm39)	T317A	probably benign	Het
Dsp	C	T	13: 38,376,628 (GRCm39)	T1471I	probably benign	Het
Enpp3	T	C	10: 24,654,719 (GRCm39)	D230G	probably damaging	Het
Eri3	T	C	4: 117,506,553 (GRCm39)	M294T	possibly damaging	Het
Fat1	T	A	8: 45,492,873 (GRCm39)	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,757,123 (GRCm39)	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,946,799 (GRCm39)	D199G	probably benign	Het
Glce	A	G	9: 61,977,485 (GRCm39)	V133A	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hk1	A	G	10: 62,122,220 (GRCm39)	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,330,555 (GRCm39)	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,419,476 (GRCm39)	A43S	probably damaging	Het
Inf2	A	G	12: 112,568,113 (GRCm39)	I222V	possibly damaging	Het
Kmo	T	A	1: 175,482,688 (GRCm39)	N337K	probably benign	Het
Mcf2l	C	T	8: 13,055,481 (GRCm39)	R611W	probably damaging	Het
Mipep	A	T	14: 61,040,383 (GRCm39)	H301L	probably damaging	Het
Mprip	A	T	11: 59,651,789 (GRCm39)	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,239,759 (GRCm39)	T56A	probably benign	Het
Mtmr14	G	A	6: 113,217,246 (GRCm39)	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,372,679 (GRCm39)	W4056R	probably damaging	Het
Myl2	A	T	5: 122,244,783 (GRCm39)	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,180,792 (GRCm39)	D727V	probably damaging	Het
Or10s1	A	G	9: 39,985,593 (GRCm39)	M1V	probably null	Het
Or1e22	A	T	11: 73,377,518 (GRCm39)	I44N	probably damaging	Het
Or2ag12	A	T	7: 106,277,690 (GRCm39)	M1K	probably null	Het
Or56b1b	T	A	7: 108,164,772 (GRCm39)	M77L	probably benign	Het
Or9s18	A	G	13: 65,300,793 (GRCm39)	T252A	possibly damaging	Het
Pabpc1l	C	T	2: 163,885,474 (GRCm39)	T409I	probably benign	Het
Pcgf1	C	T	6: 83,056,686 (GRCm39)	R81*	probably null	Het
Pcgf2	A	G	11: 97,583,193 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Plin4	T	C	17: 56,409,147 (GRCm39)	T1358A	probably benign	Het
Pomgnt1	T	C	4: 116,013,164 (GRCm39)	S423P	probably damaging	Het
Prep	G	A	10: 44,973,533 (GRCm39)	V214I	probably benign	Het
Ptger1	T	C	8: 84,394,961 (GRCm39)		probably null	Het
Pus7	C	T	5: 23,953,832 (GRCm39)	G415D	probably benign	Het
Rbm44	C	T	1: 91,096,460 (GRCm39)	P940S	probably damaging	Het
Ripor1	A	T	8: 106,344,147 (GRCm39)	D427V	probably damaging	Het
Rp1	A	G	1: 4,415,460 (GRCm39)	I1884T	probably damaging	Het
Rpl15-ps6	T	C	15: 52,341,624 (GRCm39)		noncoding transcript	Het
Serinc2	T	C	4: 130,172,272 (GRCm39)	R7G	probably benign	Het
Serpina6	A	C	12: 103,620,719 (GRCm39)	F10C	possibly damaging	Het
Skint5	T	A	4: 113,545,903 (GRCm39)		probably null	Het
Slc66a3	T	A	12: 17,045,629 (GRCm39)	I114F	possibly damaging	Het
Slc6a4	A	T	11: 76,914,081 (GRCm39)	I544F	possibly damaging	Het
Spdye4b	T	C	5: 143,188,176 (GRCm39)	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,497,755 (GRCm39)	V39D	probably damaging	Het
Thbs3	T	A	3: 89,126,770 (GRCm39)	Y295N	probably damaging	Het
Themis	G	A	10: 28,657,887 (GRCm39)	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,838,419 (GRCm39)	I1502N	probably benign	Het
Tmem43	T	A	6: 91,454,336 (GRCm39)	M41K	probably benign	Het
Tmprss6	A	C	15: 78,324,503 (GRCm39)	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,313,256 (GRCm39)	T140A	probably benign	Het
Uchl1	A	G	5: 66,844,216 (GRCm39)	E206G	probably damaging	Het
Vash2	A	G	1: 190,692,488 (GRCm39)	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,371,384 (GRCm39)	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,156 (GRCm39)	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,368,261 (GRCm39)	M244L	probably benign	Het
Vwa5b2	T	A	16: 20,414,089 (GRCm39)	H236Q	probably damaging	Het
Zfp652	C	T	11: 95,640,116 (GRCm39)	P14S	probably benign	Het
Zfp668	G	A	7: 127,466,995 (GRCm39)	R194*	probably null	Het
Zgrf1	G	T	3: 127,354,674 (GRCm39)	V98L	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
R0230:Ebf1	UTSW	11	44,886,949 (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
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'- GGAGATGTTCCTCCCTTACAC -3'
(R):5'- TCTCTGCTAGAGGGGATGGTAC -3'

Sequencing Primer
(F):5'- CCCCAGGTCTCCCACAGATG -3'
(R):5'- CCCAAGTTGAGGGTTGCAG -3'

Posted On

2016-10-24