Mutagenetix > Incidental Mutation

Incidental Mutation 'R4904:Ebf1'

378047

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

042507-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R4904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44617317-45008091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44869169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 211 (F211S)

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: F211S

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

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: F211S

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: F211S

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

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: F211S

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: F211S

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

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: F211S

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

0.9595

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

94% (82/87)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	G	4: 130,012,539	I920S	possibly damaging	Het
Afap1l1	A	G	18: 61,738,715	I556T	probably benign	Het
Ankfy1	C	A	11: 72,752,105	H665N	probably benign	Het
Aqp9	A	C	9: 71,162,403		probably benign	Het
Arhgap21	A	G	2: 20,850,061	S1497P	probably benign	Het
Armc7	A	G	11: 115,488,974	D166G	probably damaging	Het
Arrdc1	C	A	2: 24,926,664	V167F	possibly damaging	Het
AW822073	T	A	10: 58,223,487	R482*	probably null	Het
Col6a3	A	T	1: 90,801,442	I1259N	probably damaging	Het
Coq8a	C	T	1: 180,178,603	R207Q	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dcbld1	C	T	10: 52,319,970	Q425*	probably null	Het
Def8	A	G	8: 123,461,480	N445D	probably damaging	Het
Dicer1	C	T	12: 104,713,066	V551I	probably benign	Het
Dst	A	T	1: 34,169,798	T800S	probably damaging	Het
Dtl	A	T	1: 191,568,345	C136S	probably damaging	Het
Duox1	T	A	2: 122,320,864	Y310N	probably damaging	Het
Gm44501	A	T	17: 40,578,993	I133F	possibly damaging	Het
Gm6625	T	C	8: 89,146,751		noncoding transcript	Het
Golgb1	A	T	16: 36,893,386	D243V	probably damaging	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Gtf2a1l	G	A	17: 88,690,043		probably null	Het
Herc2	T	C	7: 56,157,486	F2471L	probably damaging	Het
Hfe	A	T	13: 23,708,054	I109N	probably damaging	Het
Hrg	A	G	16: 22,951,250	E43G	probably benign	Het
Hspa1a	T	C	17: 34,970,451	D492G	probably damaging	Het
Itgb8	T	C	12: 119,170,871	D487G	probably benign	Het
Jag1	A	G	2: 137,087,142	V798A	probably damaging	Het
Kcnq5	A	G	1: 21,424,100	V501A	probably damaging	Het
Kntc1	T	C	5: 123,778,333	V743A	possibly damaging	Het
Ly86	G	T	13: 37,415,520	V126F	possibly damaging	Het
Med26	A	T	8: 72,496,847	L136H	probably damaging	Het
Mpp3	T	C	11: 102,000,587	D575G	probably benign	Het
Myoc	G	A	1: 162,639,425	M54I	probably benign	Het
Nlrp1c-ps	A	G	11: 71,242,628		noncoding transcript	Het
Olfr111	A	G	17: 37,530,631	Y218C	probably damaging	Het
Olfr1418	C	T	19: 11,855,867	V29M	possibly damaging	Het
Olfr574	A	G	7: 102,949,065	Y190C	probably damaging	Het
Pak7	A	T	2: 136,083,347	D678E	probably benign	Het
Pcdhb12	T	C	18: 37,437,856	V685A	possibly damaging	Het
Pcdhga2	A	G	18: 37,669,879	T259A	possibly damaging	Het
Pde6a	A	T	18: 61,265,034	M702L	probably benign	Het
Pigq	A	G	17: 25,931,060		probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Ptch1	A	C	13: 63,523,004	I904S	probably damaging	Het
Rflnb	A	T	11: 76,022,138	C141*	probably null	Het
Rilpl1	C	A	5: 124,514,744		probably null	Het
Rpgrip1	T	C	14: 52,121,087	S217P	possibly damaging	Het
Rpgrip1	A	T	14: 52,160,129	I1292F	probably damaging	Het
Sema3a	A	C	5: 13,581,098	Y534S	probably damaging	Het
Sez6	A	G	11: 77,975,254	Y736C	probably damaging	Het
Shank1	G	T	7: 44,334,040		probably benign	Het
Slc45a4	G	A	15: 73,586,842	S294F	probably benign	Het
Slc9a8	A	G	2: 167,471,396	I393V	possibly damaging	Het
Sod1	T	A	16: 90,222,844	F46Y	probably damaging	Het
Sult1b1	T	C	5: 87,535,053	D11G	probably benign	Het
Syn3	T	G	10: 86,467,086	K68N	possibly damaging	Het
Taar8c	C	T	10: 24,101,249	V222I	probably benign	Het
Tbx20	T	C	9: 24,758,833	K235E	probably damaging	Het
Tcaf3	C	A	6: 42,593,997	E274*	probably null	Het
Tll1	A	T	8: 64,070,199	M493K	probably benign	Het
Tmem236	T	A	2: 14,195,992	S123T	probably benign	Het
Trim33	T	C	3: 103,331,647	V647A	possibly damaging	Het
Tspear	T	A	10: 77,869,655	Y296N	possibly damaging	Het
Vps13d	T	C	4: 145,155,445	K1187E	probably damaging	Het
Xpot	C	T	10: 121,617,178	V52I	probably benign	Het
Zdhhc3	A	T	9: 123,100,387	V61E	probably damaging	Het
Zfp955a	A	T	17: 33,242,188	C323*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTGGGATGCAATATCAAGC -3'
(R):5'- AGATTGCAGAGATGCCTGGG -3'

Sequencing Primer
(F):5'- CCACCCTGAGTTTTGCAGGAAAG -3'
(R):5'- GGACCAGTAGCCTCACCTG -3'

Posted On

2016-04-15