Mutagenetix > Incidental Mutation

Incidental Mutation 'R7705:E2f3'

594252

Institutional Source

Beutler Lab

Gene Symbol

E2f3

Ensembl Gene

ENSMUSG00000016477

Gene Name

E2F transcription factor 3

Synonyms

E2F3b, E2f3a

MMRRC Submission

045766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30090558-30170046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30169306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 116 (R116C)

Ref Sequence

ENSEMBL: ENSMUSP00000100012 (fasta)

Gene Model

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

AlphaFold

O35261

Predicted Effect

probably benign
Transcript: ENSMUST00000102948
AA Change: R116C

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: R116C

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 benign
Transcript: ENSMUST00000221536

Predicted Effect

probably benign
Transcript: ENSMUST00000222730

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	A	3: 59,784,168 (GRCm39)	A214T	probably benign	Het
Abcb9	G	T	5: 124,220,018 (GRCm39)	Y342*	probably null	Het
Acad9	C	T	3: 36,142,675 (GRCm39)	T470M	probably benign	Het
Ankmy2	A	G	12: 36,245,107 (GRCm39)	E379G	probably benign	Het
Cand1	A	G	10: 119,048,343 (GRCm39)		probably null	Het
Ccdc171	A	G	4: 83,476,193 (GRCm39)	T203A	possibly damaging	Het
Cpeb4	A	G	11: 31,822,327 (GRCm39)	T14A	probably damaging	Het
Cplane1	T	G	15: 8,211,736 (GRCm39)	F359V	probably damaging	Het
Crtap	A	T	9: 114,210,747 (GRCm39)	C276S	probably damaging	Het
Csf2rb2	T	C	15: 78,168,774 (GRCm39)	I794V	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	A	5: 122,007,736 (GRCm39)	M642L	probably benign	Het
Dpep1	T	C	8: 123,927,460 (GRCm39)	V338A	possibly damaging	Het
Dytn	A	G	1: 63,717,948 (GRCm39)	L29P	probably damaging	Het
Edc3	T	C	9: 57,647,197 (GRCm39)	V282A	probably benign	Het
Epha1	A	G	6: 42,339,602 (GRCm39)	V630A	probably damaging	Het
Erc1	A	G	6: 119,801,564 (GRCm39)	I151T	probably benign	Het
Fam83h	C	T	15: 75,875,699 (GRCm39)	R546H	probably damaging	Het
Fbxl14	A	T	6: 119,457,742 (GRCm39)	K308*	probably null	Het
Fbxw24	A	T	9: 109,437,516 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,976 (GRCm39)	M509K	probably benign	Het
Gpr139	T	C	7: 118,743,866 (GRCm39)	I240V	probably benign	Het
Herc1	G	T	9: 66,347,116 (GRCm39)	M1990I	possibly damaging	Het
Hmgcr	A	G	13: 96,793,231 (GRCm39)	I467T	probably benign	Het
Isl2	T	C	9: 55,449,685 (GRCm39)	F85L	probably benign	Het
Lat	T	C	7: 125,963,612 (GRCm39)	N197D	probably damaging	Het
Marchf1	T	C	8: 66,921,169 (GRCm39)	V282A	probably benign	Het
Meiosin	T	A	7: 18,835,044 (GRCm39)	D393V	unknown	Het
Mrpl9	A	G	3: 94,351,075 (GRCm39)	H85R	possibly damaging	Het
Mterf2	G	T	10: 84,956,381 (GRCm39)	A81E	probably damaging	Het
Mtr	A	G	13: 12,264,782 (GRCm39)	C107R	probably benign	Het
Nlrp4c	T	A	7: 6,075,635 (GRCm39)	V642E	probably damaging	Het
Or5b12b	A	G	19: 12,861,871 (GRCm39)	I209V	probably benign	Het
Or6c212	T	A	10: 129,559,018 (GRCm39)	I132F	probably benign	Het
Pdik1l	A	G	4: 134,006,804 (GRCm39)	S112P	unknown	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Rest	T	A	5: 77,416,119 (GRCm39)	L111Q	probably damaging	Het
Slc28a2b	A	C	2: 122,352,110 (GRCm39)		probably null	Het
Spg7	A	C	8: 123,800,617 (GRCm39)	D169A	possibly damaging	Het
Syt3	T	C	7: 44,042,083 (GRCm39)	V314A	possibly damaging	Het
Tbc1d20	G	C	2: 152,150,004 (GRCm39)	G144R	probably damaging	Het
Tlk1	A	T	2: 70,617,016 (GRCm39)		probably null	Het
Tmem147	T	G	7: 30,427,716 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,755,170 (GRCm39)	D401E	probably damaging	Het
Ulbp1	A	G	10: 7,395,685 (GRCm39)	S291P	unknown	Het
Usp19	A	G	9: 108,379,112 (GRCm39)	D1286G	possibly damaging	Het
Usp49	T	C	17: 47,989,873 (GRCm39)	F553L	probably damaging	Het
Zfp352	A	G	4: 90,113,512 (GRCm39)	T551A	possibly 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
R2496:E2f3	UTSW	13	30,095,289 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTGGTTCTCAAAGAGGGAC -3'
(R):5'- GCACGTACATCCAGATCCTC -3'

Sequencing Primer
(F):5'- TCCTCCCAACGTCCGCAG -3'
(R):5'- GTACATCCAGATCCTCACTACG -3'

Posted On

2019-11-12