Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Ebf1'

162327

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

039487-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44508144-44898918 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 44895533 bp (GRCm39)

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,217,361 (GRCm39)		probably null	Het
9130401M01Rik	A	T	15: 57,892,256 (GRCm39)	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,887,771 (GRCm39)	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,920,198 (GRCm39)	I9F	probably damaging	Het
Acap2	A	T	16: 30,929,901 (GRCm39)	S386T	probably damaging	Het
Acsm2	A	T	7: 119,172,798 (GRCm39)	I138F	possibly damaging	Het
Agl	T	C	3: 116,540,342 (GRCm39)	Y1424C	probably damaging	Het
Aoc1l1	T	A	6: 48,952,588 (GRCm39)	F171Y	probably damaging	Het
Apc2	T	C	10: 80,148,183 (GRCm39)	V1079A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Armc8	C	T	9: 99,405,185 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,588,476 (GRCm39)	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,893,001 (GRCm39)	A720V	probably damaging	Het
Chka	T	C	19: 3,924,809 (GRCm39)		probably benign	Het
Clcc1	T	C	3: 108,575,418 (GRCm39)	I165T	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dip2c	C	A	13: 9,603,340 (GRCm39)	P297Q	probably damaging	Het
Dnah17	A	T	11: 117,914,153 (GRCm39)	W4429R	probably damaging	Het
Dram2	T	C	3: 106,478,082 (GRCm39)	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,698,770 (GRCm39)	N78S	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epm2a	T	A	10: 11,266,587 (GRCm39)	Y111N	probably damaging	Het
Gm773	T	C	X: 55,247,377 (GRCm39)	T52A	probably benign	Het
Gpam	C	A	19: 55,067,693 (GRCm39)	M483I	probably damaging	Het
Gpr12	T	C	5: 146,520,235 (GRCm39)	H229R	probably damaging	Het
Gpr149	T	C	3: 62,438,439 (GRCm39)	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hells	T	A	19: 38,945,628 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,372,751 (GRCm39)	N3102K	probably benign	Het
Herc3	A	T	6: 58,893,827 (GRCm39)	T968S	possibly damaging	Het
Ift88	A	G	14: 57,674,736 (GRCm39)	Y69C	probably benign	Het
Incenp	G	A	19: 9,862,890 (GRCm39)	T388M	unknown	Het
Jrkl	A	G	9: 13,245,337 (GRCm39)	F108S	probably benign	Het
Khdc1a	A	G	1: 21,420,542 (GRCm39)	E54G	possibly damaging	Het
Kif6	T	A	17: 49,927,728 (GRCm39)	F58L	probably damaging	Het
Klk14	T	C	7: 43,344,342 (GRCm39)	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,655,319 (GRCm39)	M19T	probably benign	Het
Llgl1	G	T	11: 60,599,380 (GRCm39)	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,276,898 (GRCm39)	V33A	probably benign	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mgam	T	A	6: 40,733,301 (GRCm39)	M692K	probably damaging	Het
Mmp28	C	T	11: 83,333,765 (GRCm39)	R392H	probably damaging	Het
Mpdz	G	A	4: 81,210,788 (GRCm39)	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,433,310 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,866 (GRCm39)	N504S	probably benign	Het
Msmo1	A	G	8: 65,180,650 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,961,403 (GRCm39)	E571G	probably benign	Het
Myh14	T	C	7: 44,265,723 (GRCm39)	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,613,332 (GRCm39)	C824R	probably damaging	Het
Ncapd3	C	T	9: 26,981,168 (GRCm39)		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,163,622 (GRCm39)		probably null	Het
Nos1	C	T	5: 118,087,684 (GRCm39)		probably benign	Het
Notch3	T	C	17: 32,383,198 (GRCm39)	S47G	probably benign	Het
Npsr1	A	G	9: 24,221,371 (GRCm39)	Y122C	probably damaging	Het
Or10ak12	T	C	4: 118,666,435 (GRCm39)	M209V	probably benign	Het
Or1j11	C	T	2: 36,311,655 (GRCm39)	L82F	probably damaging	Het
Or5a1	G	T	19: 12,097,603 (GRCm39)	R158S	possibly damaging	Het
Or6c1b	C	T	10: 129,272,807 (GRCm39)	T42I	probably damaging	Het
Or6k2	T	A	1: 173,986,483 (GRCm39)	V48E	possibly damaging	Het
Or8b9	T	A	9: 37,766,548 (GRCm39)	L145M	possibly damaging	Het
Otog	G	T	7: 45,950,007 (GRCm39)	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,350,425 (GRCm39)	V191A	probably benign	Het
Pip	A	G	6: 41,826,852 (GRCm39)	M66V	probably benign	Het
Plxna2	C	T	1: 194,449,771 (GRCm39)	R830C	probably benign	Het
Prkca	A	T	11: 107,830,346 (GRCm39)	V248E	probably benign	Het
Prmt7	T	A	8: 106,963,916 (GRCm39)	L253*	probably null	Het
Prrc2a	G	T	17: 35,372,888 (GRCm39)		probably benign	Het
Rasgrf1	A	G	9: 89,894,853 (GRCm39)	D1091G	probably benign	Het
Rbm7	C	A	9: 48,401,245 (GRCm39)	G161V	probably benign	Het
Scn1a	A	T	2: 66,152,773 (GRCm39)	I736N	probably damaging	Het
Skint6	A	G	4: 112,726,721 (GRCm39)		probably benign	Het
Slc22a2	C	T	17: 12,803,195 (GRCm39)	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stam2	A	G	2: 52,604,821 (GRCm39)		probably benign	Het
Stk40	T	C	4: 126,030,626 (GRCm39)	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,845,331 (GRCm39)	N121D	probably damaging	Het
Tbc1d32	A	G	10: 55,893,758 (GRCm39)	Y1272H	probably damaging	Het
Thoc2l	T	C	5: 104,665,970 (GRCm39)	F164S	probably damaging	Het
Tmem131l	T	C	3: 83,836,021 (GRCm39)	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,524,657 (GRCm39)	Y266C	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Twf2	T	A	9: 106,092,012 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,926,635 (GRCm39)	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc5a	A	G	13: 55,152,285 (GRCm39)		probably benign	Het
Vmn2r85	T	C	10: 130,261,155 (GRCm39)	N394S	possibly damaging	Het
Wrn	A	T	8: 33,809,169 (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
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
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'- TCTGAGGCTGCAACTTTCCCAATG -3'
(R):5'- TTAACCAACACCCTGCTCTGGC -3'

Sequencing Primer
(F):5'- GTTTAGGATACCCTGTTAGAGACAC -3'
(R):5'- GTCGGTGATTTTGTTTAAAAATCTGC -3'

Posted On

2014-03-14