Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02541:E2f3'

298257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E2f3

Ensembl Gene

ENSMUSG00000016477

Gene Name

E2F transcription factor 3

Synonyms

E2F3b, E2f3a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

30090558-30170046 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 30100827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152368 (fasta)

Gene Model

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

AlphaFold

O35261

Predicted Effect

probably null
Transcript: ENSMUST00000102948

SMART Domains

Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477

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

noncoding transcript
Transcript: ENSMUST00000146092

Predicted Effect

probably null
Transcript: ENSMUST00000221536

Predicted Effect

probably null
Transcript: ENSMUST00000222730

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,113,881 (GRCm39)	L917F	possibly damaging	Het
Abca6	A	T	11: 110,103,093 (GRCm39)	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,265 (GRCm39)	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,419,066 (GRCm39)	V968A	probably benign	Het
Bend7	T	C	2: 4,768,116 (GRCm39)		probably null	Het
Cadm2	C	A	16: 66,679,770 (GRCm39)	G21V	possibly damaging	Het
Cadm2	C	A	16: 66,679,771 (GRCm39)		probably null	Het
Camta1	G	A	4: 151,169,112 (GRCm39)	T1191I	probably benign	Het
Cep152	C	T	2: 125,447,274 (GRCm39)	A425T	probably damaging	Het
Cep95	C	A	11: 106,706,407 (GRCm39)	Q554K	probably damaging	Het
Cgref1	A	G	5: 31,091,502 (GRCm39)		probably null	Het
Clock	T	A	5: 76,410,519 (GRCm39)		probably null	Het
Cmc2	A	G	8: 117,620,883 (GRCm39)	F33L	probably benign	Het
Cnksr3	A	G	10: 7,085,073 (GRCm39)	V258A	probably damaging	Het
Col6a6	G	T	9: 105,609,415 (GRCm39)	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,988 (GRCm39)	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,569,943 (GRCm39)	V337I	probably benign	Het
Eif1ad	A	G	19: 5,418,445 (GRCm39)		probably benign	Het
Fam114a2	A	T	11: 57,390,627 (GRCm39)	D302E	probably benign	Het
Fign	T	C	2: 63,809,881 (GRCm39)	N463S	probably benign	Het
Fzr1	T	C	10: 81,205,867 (GRCm39)	T220A	probably damaging	Het
Gm14496	G	A	2: 181,642,186 (GRCm39)	R619Q	probably benign	Het
Gm9966	T	C	7: 95,607,991 (GRCm39)	I104T	unknown	Het
Itgb7	G	T	15: 102,131,892 (GRCm39)	H230Q	probably benign	Het
Kif7	T	C	7: 79,360,628 (GRCm39)	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,525,792 (GRCm39)	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,208,234 (GRCm39)	T160A	probably damaging	Het
Mrps9	T	C	1: 42,901,814 (GRCm39)		probably null	Het
Mynn	T	A	3: 30,665,752 (GRCm39)	H461Q	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Niban3	A	T	8: 72,055,426 (GRCm39)	T279S	probably benign	Het
Notch1	C	T	2: 26,358,515 (GRCm39)	D1439N	probably benign	Het
Or2ag2b	A	G	7: 106,417,809 (GRCm39)	E173G	probably benign	Het
Pals2	A	G	6: 50,160,707 (GRCm39)	I323V	probably benign	Het
Pcdhb3	A	T	18: 37,435,198 (GRCm39)	D388V	probably damaging	Het
Pold3	C	T	7: 99,732,879 (GRCm39)	G417S	probably damaging	Het
Pwwp3a	G	A	10: 80,064,273 (GRCm39)		probably null	Het
Rad17	A	G	13: 100,769,951 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,425,801 (GRCm39)	D5G	probably damaging	Het
Shank3	T	A	15: 89,385,613 (GRCm39)	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,685,123 (GRCm39)	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212 (GRCm39)		probably benign	Het
Snx18	A	T	13: 113,731,302 (GRCm39)	I564N	probably damaging	Het
Supt6	G	A	11: 78,117,744 (GRCm39)	R491C	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,764,032 (GRCm39)	D511E	probably benign	Het
Trio	A	G	15: 27,845,016 (GRCm39)		probably benign	Het
Trmt12	T	A	15: 58,745,651 (GRCm39)	W350R	probably benign	Het
Ttc1	T	C	11: 43,629,648 (GRCm39)	T173A	probably benign	Het
Ttc39d	C	A	17: 80,523,875 (GRCm39)	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534 (GRCm39)	E693V	possibly damaging	Het
Vamp2	G	T	11: 68,979,977 (GRCm39)	E16D	unknown	Het
Vmn2r-ps158	T	A	7: 42,673,092 (GRCm39)		probably benign	Het
Wdr70	C	T	15: 7,913,783 (GRCm39)	W622*	probably null	Het
Zfp28	C	T	7: 6,396,479 (GRCm39)	Q305*	probably null	Het
Zfp653	C	A	9: 21,967,079 (GRCm39)	R602L	probably damaging	Het
Zzef1	T	A	11: 72,763,475 (GRCm39)	V1374E	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
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
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

Posted On

2015-04-16