Mutagenetix > Incidental Mutation

Incidental Mutation 'R8868:E2f3'

676103

Institutional Source

Beutler Lab

Gene Symbol

E2f3

Ensembl Gene

ENSMUSG00000016477

Gene Name

E2F transcription factor 3

Synonyms

E2F3b, E2f3a

MMRRC Submission

068683-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8868 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30090558-30170046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30095301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 329 (I329N)

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: I329N

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

SMART Domains

Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: I329N

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: I212N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222730
AA Change: I206N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	T	A	9: 26,890,544 (GRCm39)	N255Y	probably damaging	Het
Accsl	A	C	2: 93,696,490 (GRCm39)	L36R	probably benign	Het
Acvr2a	T	A	2: 48,763,469 (GRCm39)	V171E	probably benign	Het
Adgrl3	A	G	5: 81,794,451 (GRCm39)	I491V	probably benign	Het
Ak9	G	A	10: 41,193,842 (GRCm39)		probably null	Het
Ak9	G	T	10: 41,258,869 (GRCm39)	E789*	probably null	Het
Akr1c19	T	A	13: 4,293,070 (GRCm39)	N275K	probably benign	Het
Alg1	A	G	16: 5,061,557 (GRCm39)	H398R	probably benign	Het
Apol11a	T	A	15: 77,401,209 (GRCm39)	I232N	probably damaging	Het
Cacnb2	A	G	2: 14,989,080 (GRCm39)	I437V	probably benign	Het
Catsper4	A	G	4: 133,954,417 (GRCm39)		probably null	Het
Cdhr17	G	A	5: 17,028,152 (GRCm39)	G449D	probably benign	Het
Crnn	T	C	3: 93,055,609 (GRCm39)	C132R	probably benign	Het
Cyp4a14	T	A	4: 115,348,553 (GRCm39)	H337L	probably damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dclre1b	T	C	3: 103,710,654 (GRCm39)	N419S	probably benign	Het
Dip2c	A	G	13: 9,625,503 (GRCm39)	D621G	possibly damaging	Het
Dmwd	T	A	7: 18,814,694 (GRCm39)	L448Q	probably damaging	Het
Dnajc13	G	A	9: 104,042,987 (GRCm39)	H1922Y	probably benign	Het
Eml2	G	A	7: 18,927,988 (GRCm39)	V266M	probably benign	Het
Entpd2	A	G	2: 25,289,725 (GRCm39)	T376A	probably benign	Het
Flnb	A	G	14: 7,908,671 (GRCm38)	T1350A	probably benign	Het
Fmnl2	A	G	2: 53,016,077 (GRCm39)	E999G	unknown	Het
Hivep1	A	G	13: 42,312,407 (GRCm39)	Q1549R	possibly damaging	Het
Hps6	G	A	19: 45,992,446 (GRCm39)	V128M	possibly damaging	Het
Ifi27l2a	T	C	12: 103,402,899 (GRCm39)	S66P	possibly damaging	Het
Ikbip	T	C	10: 90,932,187 (GRCm39)	V277A	possibly damaging	Het
Ints8	T	C	4: 11,230,488 (GRCm39)	E451G	probably benign	Het
Itih2	A	T	2: 10,132,600 (GRCm39)	S64T	probably benign	Het
Kcnc4	T	A	3: 107,355,452 (GRCm39)	E332V	probably damaging	Het
Krt23	T	C	11: 99,374,567 (GRCm39)		probably benign	Het
Lrpprc	C	A	17: 85,078,920 (GRCm39)	G265C	probably damaging	Het
Nav1	G	T	1: 135,512,943 (GRCm39)	A39E	probably benign	Het
Ogfod1	G	T	8: 94,773,906 (GRCm39)	D103Y	probably damaging	Het
Or7g20	T	G	9: 18,946,778 (GRCm39)	Y120D	probably damaging	Het
Or8b55	G	A	9: 38,727,285 (GRCm39)	C162Y	probably damaging	Het
Or8g37	A	G	9: 39,731,252 (GRCm39)	T106A	probably benign	Het
Ppp1r3a	A	T	6: 14,755,014 (GRCm39)	S78T	probably damaging	Het
Rnf148	A	T	6: 23,654,540 (GRCm39)	V152E	probably damaging	Het
Sdf2	A	T	11: 78,136,970 (GRCm39)	H50L	probably damaging	Het
Sec1	T	A	7: 45,328,700 (GRCm39)	M116L	probably benign	Het
Sema6d	T	C	2: 124,496,114 (GRCm39)	S53P	probably damaging	Het
Siae	A	G	9: 37,528,132 (GRCm39)	Y35C	probably damaging	Het
Slc18b1	A	T	10: 23,686,751 (GRCm39)	Y189F	probably damaging	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Strn4	G	A	7: 16,560,570 (GRCm39)	E241K	probably benign	Het
Svep1	A	G	4: 58,135,578 (GRCm39)	I510T	possibly damaging	Het
Svop	T	C	5: 114,170,854 (GRCm39)	D395G	probably damaging	Het
Tbc1d14	A	C	5: 36,728,888 (GRCm39)	S159R	probably damaging	Het
Tex50	T	A	1: 160,984,848 (GRCm39)	I131F	possibly damaging	Het
Tssk1	A	G	16: 17,712,884 (GRCm39)	K223R	probably benign	Het
Ttc3	A	G	16: 94,252,002 (GRCm39)	I1565V	probably benign	Het
Ttn	A	T	2: 76,541,938 (GRCm39)	F33683I	possibly damaging	Het
Ttn	T	C	2: 76,783,470 (GRCm39)	M887V	unknown	Het
Usp45	G	A	4: 21,815,399 (GRCm39)		probably null	Het
Wdr47	C	T	3: 108,498,841 (GRCm39)		probably benign	Het
Xirp1	A	G	9: 119,846,871 (GRCm39)	S671P	probably benign	Het
Zbtb18	A	G	1: 177,274,682 (GRCm39)	D5G	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp260	T	G	7: 29,804,914 (GRCm39)	Y271*	probably null	Het
Zfp369	T	A	13: 65,445,082 (GRCm39)	S742T	possibly damaging	Het
Zfp786	A	T	6: 47,802,015 (GRCm39)	D87E	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
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
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'- GGAAAACCCTTCTCCATGCC -3'
(R):5'- TAAAGAAGACGTGGACACCC -3'

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

Posted On

2021-07-15