Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:E2f3'

660773

Institutional Source

Beutler Lab

Gene Symbol

E2f3

Ensembl Gene

ENSMUSG00000016477

Gene Name

E2F transcription factor 3

Synonyms

E2F3b, E2f3a

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8354 (G1)

Quality Score

70.0074

Status

Validated

Chromosome

Chromosomal Location

30090558-30170046 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 30169787 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 benign
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

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

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,676,297 (GRCm39)	S353R	probably damaging	Het
Ap1ar	T	C	3: 127,606,428 (GRCm39)		probably null	Het
Asxl1	C	A	2: 153,235,345 (GRCm39)	N213K	probably benign	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,401,334 (GRCm39)	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,233,414 (GRCm39)	V296I	probably benign	Het
Cldn5	A	G	16: 18,596,043 (GRCm39)	T100A	probably benign	Het
Ctnna1	C	A	18: 35,385,776 (GRCm39)	N802K	possibly damaging	Het
Dennd2b	G	A	7: 109,124,755 (GRCm39)	R675*	probably null	Het
Dip2c	A	G	13: 9,671,918 (GRCm39)	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,862,234 (GRCm39)	D203V	probably benign	Het
Dnajc13	A	G	9: 104,094,927 (GRCm39)	M585T	probably damaging	Het
Donson	G	T	16: 91,480,685 (GRCm39)	T262K	possibly damaging	Het
Fam110c	A	G	12: 31,125,178 (GRCm39)	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,242,027 (GRCm39)	T177P	probably damaging	Het
Gins3	C	T	8: 96,364,646 (GRCm39)	A132V	probably benign	Het
Glra3	T	A	8: 56,578,345 (GRCm39)	Y467*	probably null	Het
Gm7138	A	G	10: 77,612,444 (GRCm39)		probably benign	Het
Golim4	T	C	3: 75,802,308 (GRCm39)	E328G	probably damaging	Het
Habp2	T	A	19: 56,301,388 (GRCm39)	C270*	probably null	Het
Hecw2	A	G	1: 53,964,467 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,634,142 (GRCm39)	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,887,619 (GRCm39)	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,220,260 (GRCm39)	V57A	probably damaging	Het
Itpkb	G	A	1: 180,160,908 (GRCm39)	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,334,893 (GRCm39)	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,127,211 (GRCm39)	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,375,235 (GRCm39)	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Krt10	A	G	11: 99,280,086 (GRCm39)		probably benign	Het
Lgals3bp	T	A	11: 118,289,367 (GRCm39)	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,843 (GRCm39)	L293P	probably damaging	Het
Mical3	T	C	6: 120,950,381 (GRCm39)	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,169,224 (GRCm39)	R380L	probably damaging	Het
Msh5	A	G	17: 35,250,742 (GRCm39)	F469L	possibly damaging	Het
Ncam2	A	G	16: 81,309,847 (GRCm39)	T446A	probably benign	Het
Neurl4	A	G	11: 69,800,062 (GRCm39)	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,509,793 (GRCm39)	Y714H	possibly damaging	Het
Or5d43	T	C	2: 88,105,036 (GRCm39)	D119G	probably damaging	Het
Or8c17	T	C	9: 38,180,513 (GRCm39)	S235P	probably benign	Het
Pcnx2	T	C	8: 126,488,357 (GRCm39)	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,681,707 (GRCm39)	L1051Q	probably damaging	Het
Prkag2	T	A	5: 25,074,137 (GRCm39)	R283*	probably null	Het
Prrc1	T	A	18: 57,504,503 (GRCm39)	M238K	probably damaging	Het
Ptprj	T	C	2: 90,300,061 (GRCm39)	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,614 (GRCm39)	Y568C	probably damaging	Het
Rab36	G	A	10: 74,884,291 (GRCm39)	A114T	probably damaging	Het
Rfx7	T	C	9: 72,526,731 (GRCm39)	V1307A	probably benign	Het
Scaf1	A	C	7: 44,657,251 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,866 (GRCm39)	T440S	probably benign	Het
Setbp1	A	T	18: 78,900,598 (GRCm39)	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931 (GRCm39)	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313 (GRCm38)	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,222,753 (GRCm39)	H162R	probably benign	Het
Spata31f1e	T	A	4: 42,793,223 (GRCm39)	H303L	probably benign	Het
Strip2	G	A	6: 29,920,531 (GRCm39)		probably null	Het
Stx2	T	A	5: 129,071,932 (GRCm39)	I42L	probably benign	Het
Tas2r124	A	T	6: 132,732,410 (GRCm39)	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,115,070 (GRCm39)	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,766,181 (GRCm39)	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,018,439 (GRCm39)	T74A	possibly damaging	Het
Trim16	G	T	11: 62,727,587 (GRCm39)	R216L	probably benign	Het
Trmt10c	T	C	16: 55,854,870 (GRCm39)	K255R	probably benign	Het
Trpm2	A	T	10: 77,769,483 (GRCm39)	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,399,005 (GRCm39)	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928 (GRCm39)	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 78,984,710 (GRCm39)	I21F	probably benign	Het
Wdr11	T	C	7: 129,204,723 (GRCm39)	L176S	probably damaging	Het
Zfp992	A	G	4: 146,551,319 (GRCm39)	T347A	probably benign	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
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
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'- CTTTTGTCCATGGAGGCTGC -3'
(R):5'- CATTCATTGTCAGCAGCAGC -3'

Sequencing Primer
(F):5'- CATGGAGGCTGCAGCGG -3'
(R):5'- GGAGCCATTTTTCAGCTGCCG -3'

Posted On

2021-02-24