Mutagenetix > Incidental Mutation

Incidental Mutation 'R2496:E2f3'

251223

Institutional Source

Beutler Lab

Gene Symbol

E2f3

Ensembl Gene

ENSMUSG00000016477

Gene Name

E2F transcription factor 3

Synonyms

E2F3b, E2f3a

MMRRC Submission

040410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30090558-30170046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30095289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 333 (S333N)

Ref Sequence

ENSEMBL: ENSMUSP00000100012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102948] [ENSMUST00000221536] [ENSMUST00000222730]

AlphaFold

O35261

Predicted Effect

probably damaging
Transcript: ENSMUST00000102948
AA Change: S333N

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

SMART Domains

Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: S333N

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
low complexity region	37	51	N/A	INTRINSIC
low complexity region	106	124	N/A	INTRINSIC
low complexity region	155	168	N/A	INTRINSIC
E2F_TDP	170	235	3.53e-35	SMART
Pfam:E2F_CC-MB	251	344	5.1e-38	PFAM
low complexity region	417	430	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000221536
AA Change: S216N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000222730
AA Change: S210N

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lethality prior to adulthood but otherwise appear normal. Mouse embryonic fibroblast cells from mice homozygous for a null allele are defective in cell cycle progression and exhibit reduced proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,761,065 (GRCm39)	W1926R	probably damaging	Het
Arhgef25	T	C	10: 127,023,063 (GRCm39)	T106A	probably benign	Het
Baz1b	G	A	5: 135,239,629 (GRCm39)	R243Q	probably damaging	Het
Cdhr3	A	G	12: 33,099,068 (GRCm39)	Y508H	probably benign	Het
Cyp2d9	T	A	15: 82,336,680 (GRCm39)	W10R	probably damaging	Het
Dmxl1	A	G	18: 50,013,858 (GRCm39)	T1549A	possibly damaging	Het
Dnah8	A	T	17: 31,070,705 (GRCm39)	R4464W	probably damaging	Het
Dpp4	G	A	2: 62,217,477 (GRCm39)	T40M	possibly damaging	Het
Dync1h1	A	G	12: 110,607,654 (GRCm39)	H2723R	possibly damaging	Het
Fam120a	G	T	13: 49,121,069 (GRCm39)	A79E	probably damaging	Het
Fat3	A	G	9: 15,877,399 (GRCm39)	S3405P	probably benign	Het
Gaa	T	C	11: 119,174,531 (GRCm39)	S793P	possibly damaging	Het
Galc	A	C	12: 98,193,540 (GRCm39)	F350V	probably damaging	Het
Garre1	A	G	7: 33,955,916 (GRCm39)	V391A	possibly damaging	Het
Gm136	A	G	4: 34,746,541 (GRCm39)	C157R	probably damaging	Het
Gm3327	A	C	14: 44,363,720 (GRCm39)	N108T	unknown	Het
H2-M10.2	A	G	17: 36,596,771 (GRCm39)	Y102H	possibly damaging	Het
Hmcn1	A	T	1: 150,490,972 (GRCm39)	D4192E	probably benign	Het
Hpse2	A	C	19: 43,001,482 (GRCm39)		probably null	Het
Idh3a	T	C	9: 54,510,633 (GRCm39)	V362A	probably benign	Het
Kdm7a	A	T	6: 39,147,697 (GRCm39)		probably null	Het
Krt6b	A	G	15: 101,588,216 (GRCm39)	V148A	probably damaging	Het
Lrba	G	A	3: 86,439,394 (GRCm39)	R1977H	probably damaging	Het
Magi2	A	T	5: 19,883,750 (GRCm39)	Y134F	probably benign	Het
Mamdc4	T	C	2: 25,455,914 (GRCm39)	Y801C	probably damaging	Het
Maml1	T	C	11: 50,149,371 (GRCm39)	T790A	probably benign	Het
Map3k19	A	G	1: 127,750,823 (GRCm39)	Y843H	probably damaging	Het
Mdfic	A	T	6: 15,741,041 (GRCm39)	H45L	possibly damaging	Het
Mlx	C	T	11: 100,979,080 (GRCm39)	T87I	probably benign	Het
Mms22l	T	A	4: 24,521,269 (GRCm39)	I382K	probably benign	Het
Mtf1	A	G	4: 124,732,697 (GRCm39)	N585S	probably benign	Het
Mylk2	C	T	2: 152,755,588 (GRCm39)	P251S	probably damaging	Het
Myorg	A	G	4: 41,499,165 (GRCm39)	V155A	probably benign	Het
Nox4	A	T	7: 86,955,958 (GRCm39)	T157S	probably benign	Het
Oas2	A	T	5: 120,886,682 (GRCm39)	H161Q	probably benign	Het
Obscn	A	T	11: 58,994,268 (GRCm39)	V1563E	probably damaging	Het
Or2n1b	T	C	17: 38,460,322 (GRCm39)	V281A	possibly damaging	Het
Or55b3	T	C	7: 102,126,354 (GRCm39)	K241R	probably damaging	Het
Or6c203	A	C	10: 129,009,966 (GRCm39)	F308C	probably benign	Het
Pcdhb11	T	A	18: 37,555,375 (GRCm39)	I235N	probably benign	Het
Pcsk5	A	T	19: 17,443,522 (GRCm39)	C1212*	probably null	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rsph4a	A	T	10: 33,784,094 (GRCm39)	I239L	possibly damaging	Het
Setx	A	G	2: 29,034,813 (GRCm39)	I433V	probably benign	Het
Smyd4	T	C	11: 75,281,927 (GRCm39)	S467P	probably benign	Het
Snai2	A	T	16: 14,523,866 (GRCm39)	H10L	possibly damaging	Het
Snw1	T	C	12: 87,497,589 (GRCm39)	I467V	probably benign	Het
Stab1	A	T	14: 30,883,420 (GRCm39)	C301S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,342 (GRCm39)		probably null	Het
Tmem70	C	A	1: 16,735,575 (GRCm39)	P15Q	probably benign	Het
Tmem87a	T	C	2: 120,224,859 (GRCm39)	E134G	probably damaging	Het
Ubr4	C	T	4: 139,200,516 (GRCm39)		probably benign	Het
Ugt2b37	C	T	5: 87,402,569 (GRCm39)	V21M	probably damaging	Het
Ugt2b38	T	A	5: 87,569,551 (GRCm39)	I259F	probably damaging	Het
Zfp804a	T	A	2: 82,066,188 (GRCm39)	L53Q	probably damaging	Het

Other mutations in E2f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:E2f3	APN	13	30,102,687 (GRCm39)	missense	probably damaging	1.00
IGL00774:E2f3	APN	13	30,102,687 (GRCm39)	missense	probably damaging	1.00
IGL02541:E2f3	APN	13	30,100,827 (GRCm39)	critical splice donor site	probably null
IGL02669:E2f3	APN	13	30,100,974 (GRCm39)	missense	probably benign	0.00
IGL03119:E2f3	APN	13	30,169,348 (GRCm39)	missense	probably benign	0.21
Crumble	UTSW	13	30,095,301 (GRCm39)	missense	probably damaging	1.00
Hillside	UTSW	13	30,102,652 (GRCm39)	missense	probably damaging	1.00
Slippery	UTSW	13	30,102,568 (GRCm39)	missense	possibly damaging	0.94
R0830:E2f3	UTSW	13	30,169,543 (GRCm39)	missense	probably benign	0.02
R0948:E2f3	UTSW	13	30,169,516 (GRCm39)	missense	probably damaging	0.99
R1442:E2f3	UTSW	13	30,102,652 (GRCm39)	missense	probably damaging	1.00
R1813:E2f3	UTSW	13	30,104,159 (GRCm39)	missense	probably damaging	0.97
R4715:E2f3	UTSW	13	30,095,258 (GRCm39)	missense	probably damaging	1.00
R5202:E2f3	UTSW	13	30,102,619 (GRCm39)	missense	probably damaging	1.00
R5902:E2f3	UTSW	13	30,169,250 (GRCm39)	unclassified	probably benign
R6796:E2f3	UTSW	13	30,102,568 (GRCm39)	missense	possibly damaging	0.94
R7546:E2f3	UTSW	13	30,094,112 (GRCm39)	missense	probably damaging	0.98
R7705:E2f3	UTSW	13	30,169,306 (GRCm39)	missense	probably benign	0.39
R7779:E2f3	UTSW	13	30,102,598 (GRCm39)	missense	probably damaging	0.99
R8354:E2f3	UTSW	13	30,169,787 (GRCm39)	unclassified	probably benign
R8518:E2f3	UTSW	13	30,097,453 (GRCm39)	missense	probably damaging	0.98
R8868:E2f3	UTSW	13	30,095,301 (GRCm39)	missense	probably damaging	1.00
R9017:E2f3	UTSW	13	30,097,478 (GRCm39)	missense	probably damaging	1.00
R9041:E2f3	UTSW	13	30,093,939 (GRCm39)	missense	probably damaging	0.97
R9272:E2f3	UTSW	13	30,102,629 (GRCm39)	missense	probably damaging	1.00
R9336:E2f3	UTSW	13	30,095,239 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGGAAAACCCTTCTCCATGC -3'
(R):5'- GCTAAAGAAGACGTGGACACCC -3'

Sequencing Primer
(F):5'- ATGCCTTCCTTTTTAAACACCGTG -3'
(R):5'- TGAGAATGGCCACAGACTCTC -3'

Posted On

2014-12-04