Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.909) 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

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]

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		probably null	Het
Acyp1	C	T	12: 85,278,905	V107I	probably null	Het
Aftph	T	C	11: 20,726,144		probably null	Het
Agtpbp1	A	T	13: 59,544,353		probably null	Het
Arhgap15	C	A	2: 44,116,677	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634		probably null	Het
Birc3	A	G	9: 7,860,261		probably null	Het
Cav2	A	T	6: 17,286,951	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Cox4i1	T	C	8: 120,673,230	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595	I8F	unknown	Het
Foxb2	C	A	19: 16,872,833	E270*	probably null	Het
Gclc	A	T	9: 77,788,245	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437	Q61L	probably benign	Het
Met	A	C	6: 17,571,467	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648		probably null	Het
Peg10	A	G	6: 4,757,137		probably benign	Het
Pms2	C	T	5: 143,925,419	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046		probably benign	Het
Prob1	G	A	18: 35,655,154	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Homo
Sec23ip	A	G	7: 128,752,849		silent	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180		probably null	Het
Slc6a18	C	A	13: 73,677,991		probably benign	Het
Snw1	T	C	12: 87,464,710	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395		probably null	Het
Spire2	C	T	8: 123,356,846	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650		probably null	Het
Vmn2r114	A	T	17: 23,309,876	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302		probably null	Het
Zcchc24	T	C	14: 25,757,033	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894	K2050R	probably 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
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
R3110:Ebf1	UTSW	11	44643398	splice site	probably benign
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
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

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