Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:E2f2'

656447

Institutional Source

Beutler Lab

Gene Symbol

E2f2

Ensembl Gene

ENSMUSG00000018983

Gene Name

E2F transcription factor 2

Synonyms

MMRRC Submission

067686-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135899705-135923368 bp(+) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

A to G at 135911791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061721]

AlphaFold

P56931

Predicted Effect

silent
Transcript: ENSMUST00000061721

SMART Domains

Protein: ENSMUSP00000050047
Gene: ENSMUSG00000018983

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
E2F_TDP	131	196	2.93e-32	SMART
Pfam:E2F_CC-MB	212	306	3.1e-38	PFAM
low complexity region	348	376	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature death with signs of inflammatory and autoimmune disorders such as increased memory T cells, enlarged spleen, glomerulonephritis, inflammed liver, inflammed lung, increased double stranded DNA antibodies, hair loss, and erythema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,425 (GRCm39)	E5G	probably benign	Het
Adam23	T	C	1: 63,567,957 (GRCm39)	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,195,120 (GRCm39)	E512D	probably damaging	Het
Ahnak	A	T	19: 8,982,817 (GRCm39)	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,769,084 (GRCm39)	Q198L	probably benign	Het
Apcdd1	T	A	18: 63,066,974 (GRCm39)	H29Q	possibly damaging	Het
Cdh16	T	A	8: 105,341,811 (GRCm39)	K755*	probably null	Het
Cdk6	T	G	5: 3,440,685 (GRCm39)	F80V	probably benign	Het
Chd1	T	C	17: 17,607,804 (GRCm39)	S451P	probably benign	Het
Chd6	A	G	2: 160,799,002 (GRCm39)	L2361P	probably damaging	Het
Chst8	A	G	7: 34,447,579 (GRCm39)	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,072,627 (GRCm39)	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,659,343 (GRCm39)	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,657,865 (GRCm39)	V1903D	probably damaging	Het
Eif4g3	T	A	4: 137,898,429 (GRCm39)	S902T	possibly damaging	Het
Emid1	G	T	11: 5,084,353 (GRCm39)	A152D	probably benign	Het
Fer1l6	T	A	15: 58,432,345 (GRCm39)	N297K	possibly damaging	Het
Fes	T	C	7: 80,032,902 (GRCm39)	D281G	probably null	Het
Frmpd2	T	C	14: 33,224,934 (GRCm39)	V133A	probably benign	Het
Fry	A	G	5: 150,369,372 (GRCm39)	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,616,664 (GRCm39)		probably null	Het
Gm1527	A	G	3: 28,974,749 (GRCm39)	T521A	probably damaging	Het
Gpr141	T	A	13: 19,936,013 (GRCm39)	H254L	probably benign	Het
Gpr160	A	G	3: 30,950,096 (GRCm39)	E56G	probably benign	Het
Grid2ip	T	G	5: 143,367,695 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,481,382 (GRCm39)	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,743,102 (GRCm39)	T94A	probably damaging	Het
Inava	T	A	1: 136,153,215 (GRCm39)	N226Y	probably damaging	Het
Iqgap2	A	G	13: 95,772,078 (GRCm39)	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929 (GRCm39)	M856K	probably damaging	Het
Kirrel1	T	C	3: 86,995,309 (GRCm39)		probably benign	Het
Lad1	T	C	1: 135,755,500 (GRCm39)	S259P	probably damaging	Het
Lalba	A	T	15: 98,379,992 (GRCm39)	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,886,323 (GRCm39)	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,046,942 (GRCm39)	T665A	probably benign	Het
Ms4a20	T	A	19: 11,087,707 (GRCm39)	S75C	probably damaging	Het
Myh11	T	C	16: 14,041,867 (GRCm39)	I719V		Het
Nbl1	A	T	4: 138,812,832 (GRCm39)	C34S	probably damaging	Het
Ncapg	T	A	5: 45,844,730 (GRCm39)	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,487,816 (GRCm39)	T840A	possibly damaging	Het
Nrdc	T	C	4: 108,873,876 (GRCm39)	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,165,428 (GRCm39)	K395E	probably benign	Het
Nrip1	A	T	16: 76,088,949 (GRCm39)	N869K	possibly damaging	Het
Or2a14	T	A	6: 43,130,242 (GRCm39)	M1K	probably null	Het
Or4c12	A	G	2: 89,773,716 (GRCm39)	F248L	probably benign	Het
Or8s16	A	T	15: 98,210,546 (GRCm39)	M295K	probably benign	Het
Otub2	G	T	12: 103,369,161 (GRCm39)		probably null	Het
Paxbp1	T	C	16: 90,834,303 (GRCm39)	D161G	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Per2	T	A	1: 91,361,170 (GRCm39)	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,431,724 (GRCm39)	V571E	probably damaging	Het
Prr7	C	A	13: 55,620,735 (GRCm39)	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,073,169 (GRCm39)	T464S	possibly damaging	Het
Rapgef2	A	G	3: 78,993,325 (GRCm39)	V721A	probably benign	Het
Rfx1	A	T	8: 84,819,479 (GRCm39)	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,211,195 (GRCm39)	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,651,141 (GRCm39)		probably benign	Het
Slc25a31	T	C	3: 40,679,351 (GRCm39)	I272T	probably damaging	Het
Smpd1	T	C	7: 105,204,520 (GRCm39)	V133A	probably benign	Het
Sorl1	T	C	9: 41,925,777 (GRCm39)	D1185G	probably damaging	Het
Spag6	T	A	2: 18,750,301 (GRCm39)	L449H	probably benign	Het
Sptb	C	A	12: 76,668,036 (GRCm39)	R687L	probably benign	Het
Sptbn5	A	T	2: 119,877,616 (GRCm39)	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 65,416,972 (GRCm39)	I188V	probably benign	Het
Tmem253	G	A	14: 52,256,708 (GRCm39)	V194M	probably benign	Het
Tph1	A	G	7: 46,303,173 (GRCm39)		silent	Het
Trak1	A	G	9: 121,280,733 (GRCm39)	E374G	probably damaging	Het
Trpv1	A	T	11: 73,145,593 (GRCm39)		probably null	Het
Trub2	T	C	2: 29,667,725 (GRCm39)	H305R	probably benign	Het
Ttn	A	G	2: 76,747,768 (GRCm39)	V4427A	probably benign	Het
Vasn	A	G	16: 4,466,160 (GRCm39)	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,013,158 (GRCm39)	I70F	probably benign	Het
Vps13c	A	T	9: 67,862,262 (GRCm39)	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,307,588 (GRCm39)	M144I	probably benign	Het
Zfp273	T	A	13: 67,974,070 (GRCm39)	N399K	probably benign	Het
Zfp976	T	A	7: 42,262,125 (GRCm39)	T572S	unknown	Het
Zmym4	A	G	4: 126,798,360 (GRCm39)	C756R	probably damaging	Het

Other mutations in E2f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:E2f2	APN	4	135,907,728 (GRCm39)	nonsense	probably null
IGL02078:E2f2	APN	4	135,920,323 (GRCm39)	missense	probably damaging	1.00
IGL02112:E2f2	APN	4	135,920,145 (GRCm39)	missense	probably benign	0.08
IGL02123:E2f2	APN	4	135,900,159 (GRCm39)	missense	probably benign	0.00
R0398:E2f2	UTSW	4	135,907,855 (GRCm39)	missense	probably damaging	1.00
R1594:E2f2	UTSW	4	135,914,141 (GRCm39)	missense	possibly damaging	0.85
R4729:E2f2	UTSW	4	135,911,760 (GRCm39)	missense	probably damaging	0.99
R5092:E2f2	UTSW	4	135,914,248 (GRCm39)	missense	probably benign	0.04
R5184:E2f2	UTSW	4	135,911,751 (GRCm39)	missense	possibly damaging	0.95
R5462:E2f2	UTSW	4	135,900,224 (GRCm39)	missense	probably benign	0.06
R5987:E2f2	UTSW	4	135,900,245 (GRCm39)	missense	probably benign	0.00
R6237:E2f2	UTSW	4	135,905,796 (GRCm39)	missense	possibly damaging	0.48
R7678:E2f2	UTSW	4	135,920,137 (GRCm39)	nonsense	probably null
R8247:E2f2	UTSW	4	135,900,126 (GRCm39)	missense	possibly damaging	0.76
R9147:E2f2	UTSW	4	135,908,595 (GRCm39)	critical splice acceptor site	probably null
R9148:E2f2	UTSW	4	135,908,595 (GRCm39)	critical splice acceptor site	probably null
R9606:E2f2	UTSW	4	135,911,743 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTTTCAGGGATGGAAGGC -3'
(R):5'- TGTAAAACCAGAGATGCCCTCAG -3'

Sequencing Primer
(F):5'- GGCTTGTGCTATTCAAAGAACAGTC -3'
(R):5'- CAGGCTAGAACTTAGACTCCGTTG -3'

Posted On

2020-11-18