Mutagenetix > Incidental Mutation

Incidental Mutation 'R6170:Ebf1'

490398

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: 0.903) question?

Stock #

R6170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44617317-45008091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44883885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 236 (N236K)

Ref Sequence

ENSEMBL: ENSMUSP00000099857 (fasta)

Gene Model

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

AlphaFold

Q07802

Predicted Effect

probably damaging
Transcript: ENSMUST00000081265
AA Change: N236K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: N236K

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: N236K

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

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: N236K

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: N236K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: N236K

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

0.7195

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,572	S90R	probably benign	Het
4930430A15Rik	A	G	2: 111,227,948	Y167H	probably benign	Het
4930523C07Rik	C	A	1: 160,075,173	N4K	possibly damaging	Het
5430419D17Rik	A	T	7: 131,174,487		probably null	Het
Adgrl2	A	G	3: 148,823,009	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,602,724	D94G	possibly damaging	Het
Anln	T	C	9: 22,368,497	N466D	probably benign	Het
Atp9b	T	A	18: 80,877,347	I231L	probably benign	Het
Bpifb3	T	A	2: 153,919,637	M2K	unknown	Het
Btbd3	T	C	2: 138,278,942	L12P	probably damaging	Het
Btnl6	T	A	17: 34,515,506	Y94F	probably damaging	Het
Cab39	T	A	1: 85,818,455	L19*	probably null	Het
Cacna2d2	A	G	9: 107,527,334	D1114G	probably damaging	Het
Cdh11	A	G	8: 102,634,810	V632A	probably benign	Het
Cemip	T	G	7: 83,947,230	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,966,443	P1522Q	unknown	Het
Colgalt1	C	T	8: 71,621,870	L409F	probably damaging	Het
Crtc2	A	G	3: 90,259,600	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,759,094	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,327,446	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,545,267	T242A	probably benign	Het
Ddah1	A	G	3: 145,891,506	D166G	probably benign	Het
Dmtn	T	C	14: 70,617,355	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,335,986	D607V	probably damaging	Het
Emc1	A	G	4: 139,366,378	T600A	probably benign	Het
Fam205a1	A	G	4: 42,849,345	V937A	probably benign	Het
Fbxo33	T	C	12: 59,204,649	N360S	probably benign	Het
Fbxw5	A	G	2: 25,503,603	D72G	possibly damaging	Het
Fhad1	T	A	4: 141,890,952	K1388*	probably null	Het
Fzd7	A	G	1: 59,483,845	M296V	probably benign	Het
Gdpd3	T	C	7: 126,771,164	I257T	probably benign	Het
Glt28d2	T	G	3: 85,871,941	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,811,144		probably benign	Het
Gm28729	A	G	9: 96,519,441	I98T	probably damaging	Het
Gm4924	C	T	10: 82,377,231	Q288*	probably null	Het
Gpr150	T	C	13: 76,056,557	M90V	probably damaging	Het
Ireb2	G	A	9: 54,887,372	V331I	probably benign	Het
Kdelc2	T	C	9: 53,399,742	V481A	possibly damaging	Het
Lpcat2b	A	T	5: 107,433,894	Y363F	probably benign	Het
Me2	T	C	18: 73,785,781	I410V	probably benign	Het
Naxe	T	C	3: 88,058,230	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,924,464	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,156,079	Y1149F	probably damaging	Het
Nrg1	A	G	8: 31,818,480	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,392,804	P64S	probably benign	Het
Pkd1l3	A	T	8: 109,623,179	T219S	unknown	Het
Plagl1	T	C	10: 13,127,231	L81P	probably damaging	Het
Polq	A	G	16: 37,045,812	Q457R	possibly damaging	Het
Ppargc1a	C	A	5: 51,473,911	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,370,437	D253G	probably benign	Het
Prl2c2	T	A	13: 13,002,172	N55Y	probably damaging	Het
Prlr	T	C	15: 10,328,849	F470S	probably benign	Het
Serpina12	T	C	12: 104,038,241	D44G	probably benign	Het
Sfxn1	T	G	13: 54,106,507	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,341,672	D224G	probably benign	Het
Slc30a7	A	G	3: 115,990,743	F123S	probably damaging	Het
Stox2	T	A	8: 47,192,020	M802L	probably benign	Het
Tmem150a	G	A	6: 72,356,745	R30H	probably benign	Het
Tmem210	G	A	2: 25,288,764		probably null	Het
Tor3a	T	C	1: 156,656,573	N269S	possibly damaging	Het
Trp63	A	C	16: 25,884,853	N423T	probably benign	Het
Vmn2r60	A	G	7: 42,135,621	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,957,140	I333V	probably benign	Het
Vwa7	C	A	17: 35,021,210	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,529,671		probably null	Het
Wdr31	A	G	4: 62,463,424	Y57H	probably damaging	Het
Zbtb44	T	A	9: 31,053,382	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,624,438	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,302,110	R184S	probably benign	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
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
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
R9603:Ebf1	UTSW	11	44618179	start codon destroyed	probably null	0.07

Predicted Primers

PCR Primer
(F):5'- GACGTGTACGACATAAGCACCAG -3'
(R):5'- TCAGAGGTGTTCAATGGGAC -3'

Sequencing Primer
(F):5'- CGACATAAGCACCAGTTATTATGTG -3'
(R):5'- GGGACACTCAAAATTTGTAACAATAG -3'

Posted On

2017-10-10