Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Ebf1'

530600

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

044864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44617317-45008091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44883814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 213 (V213F)

Ref Sequence

ENSEMBL: ENSMUSP00000104891 (fasta)

Gene Model

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

AlphaFold

Q07802

Predicted Effect

probably damaging
Transcript: ENSMUST00000081265
AA Change: V213F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: V213F

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: V213F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: V213F

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: V213F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: V213F

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

0.8929

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313 (GRCm38)		probably null	Het
Acyp1	C	T	12: 85,278,905 (GRCm38)	V107I	probably null	Het
Aftph	T	C	11: 20,726,144 (GRCm38)		probably null	Het
Agtpbp1	A	T	13: 59,544,353 (GRCm38)		probably null	Het
Arhgap15	C	A	2: 44,116,677 (GRCm38)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729 (GRCm38)	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493 (GRCm38)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634 (GRCm38)		probably null	Het
Birc3	A	G	9: 7,860,261 (GRCm38)		probably null	Het
Cav2	A	T	6: 17,286,951 (GRCm38)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667 (GRCm38)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854 (GRCm38)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380 (GRCm38)	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879 (GRCm38)	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450 (GRCm38)	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622 (GRCm38)		probably benign	Het
Cox4i1	T	C	8: 120,673,230 (GRCm38)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767 (GRCm38)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340 (GRCm38)	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302 (GRCm38)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088 (GRCm38)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062 (GRCm38)	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595 (GRCm38)	I8F	unknown	Het
Foxb2	C	A	19: 16,872,833 (GRCm38)	E270*	probably null	Het
Gclc	A	T	9: 77,788,245 (GRCm38)	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978 (GRCm38)	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268 (GRCm38)	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677 (GRCm38)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091 (GRCm38)	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437 (GRCm38)	Q61L	probably benign	Het
Met	A	C	6: 17,571,467 (GRCm38)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699 (GRCm38)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981 (GRCm38)	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419 (GRCm38)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381 (GRCm38)	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954 (GRCm38)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344 (GRCm38)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724 (GRCm38)	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641 (GRCm38)	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027 (GRCm38)	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648 (GRCm38)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm38)		probably benign	Het
Pms2	C	T	5: 143,925,419 (GRCm38)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187 (GRCm38)	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046 (GRCm38)		probably benign	Het
Prob1	G	A	18: 35,655,154 (GRCm38)	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263 (GRCm38)		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143 (GRCm38)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906 (GRCm38)		probably benign	Homo
Sec23ip	A	G	7: 128,752,849 (GRCm38)		silent	Het
Slc38a9	T	C	13: 112,690,180 (GRCm38)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180 (GRCm38)		probably null	Het
Slc6a18	C	A	13: 73,677,991 (GRCm38)		probably benign	Het
Snw1	T	C	12: 87,464,710 (GRCm38)	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731 (GRCm38)	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395 (GRCm38)		probably null	Het
Spire2	C	T	8: 123,356,846 (GRCm38)	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383 (GRCm38)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243 (GRCm38)	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262 (GRCm38)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521 (GRCm38)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264 (GRCm38)	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056 (GRCm38)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650 (GRCm38)		probably null	Het
Vmn2r114	A	T	17: 23,309,876 (GRCm38)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422 (GRCm38)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007 (GRCm38)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724 (GRCm38)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302 (GRCm38)		probably null	Het
Zcchc24	T	C	14: 25,757,033 (GRCm38)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm38)	K2050R	probably damaging	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
R0230:Ebf1	UTSW	11	44,996,122 (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
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'- AGCATCAAAAGCGTTCCACG -3'
(R):5'- ATCAGAGGTGTTCAATGGGAC -3'

Sequencing Primer
(F):5'- GCTGAAGACCCACTCATCAATAGTG -3'
(R):5'- GTCACAGTCACAAGTAGCAATG -3'

Posted On

2018-08-01