Mutagenetix > Incidental Mutation

Incidental Mutation 'R3843:E2f1'

277234

Institutional Source

Beutler Lab

Gene Symbol

E2f1

Ensembl Gene

ENSMUSG00000027490

Gene Name

E2F transcription factor 1

Synonyms

E2F-1

MMRRC Submission

040783-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R3843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154401327-154411812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154402748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 340 (S340P)

Ref Sequence

ENSEMBL: ENSMUSP00000000894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000000895] [ENSMUST00000103145] [ENSMUST00000109716] [ENSMUST00000125793]

AlphaFold

Q61501

Predicted Effect

probably benign
Transcript: ENSMUST00000000894
AA Change: S340P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490
AA Change: S340P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:E2F_TDP	77	142	1.1e-25	PFAM
low complexity region	156	173	N/A	INTRINSIC
low complexity region	273	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000000895

SMART Domains

Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	58	7.3e-8	PFAM
Pfam:EF-hand_5	32	57	4.6e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
coiled coil region	209	237	N/A	INTRINSIC
Pfam:ABM	252	327	4.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103145
AA Change: S385P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490
AA Change: S385P

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
E2F_TDP	122	187	1.63e-30	SMART
Pfam:E2F_CC-MB	201	294	2.2e-37	PFAM
low complexity region	318	340	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109716

SMART Domains

Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	59	6.9e-8	PFAM
Pfam:EF-hand_5	32	57	1.7e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
Pfam:ABM	232	303	2.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124382

Predicted Effect

probably benign
Transcript: ENSMUST00000125793

SMART Domains

Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
low complexity region	146	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149725

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (35/35)

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, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,495 (GRCm39)	Y168*	probably null	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Arid2	C	T	15: 96,249,721 (GRCm39)	T145I	possibly damaging	Het
Ccdc8	T	C	7: 16,729,039 (GRCm39)	V176A	probably damaging	Het
Cdhr1	G	T	14: 36,806,884 (GRCm39)	F440L	probably benign	Het
Ckap2	A	T	8: 22,665,774 (GRCm39)	N424K	probably damaging	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Dennd1b	C	A	1: 138,981,092 (GRCm39)	P102Q	probably damaging	Het
Eef1akmt2	C	T	7: 132,433,305 (GRCm39)	V134I	probably damaging	Het
Elp3	A	T	14: 65,802,932 (GRCm39)		probably null	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,450,002 (GRCm39)	Y1999H	probably benign	Het
Hectd4	G	T	5: 121,397,936 (GRCm39)	W288L	possibly damaging	Het
Hnf4g	G	A	3: 3,716,362 (GRCm39)	C262Y	probably benign	Het
Hrh4	A	G	18: 13,155,343 (GRCm39)	Y294C	possibly damaging	Het
Igkv5-39	C	A	6: 69,877,526 (GRCm39)	G77W	probably damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Kif26b	T	C	1: 178,755,742 (GRCm39)	L1952P	probably damaging	Het
Lgr4	C	T	2: 109,827,118 (GRCm39)		probably benign	Het
Nlrc3	G	A	16: 3,782,828 (GRCm39)	R194W	probably benign	Het
Nup214	T	C	2: 31,941,112 (GRCm39)	F547L	probably damaging	Het
Or5m3	A	G	2: 85,838,548 (GRCm39)	I143V	probably benign	Het
Pdp1	T	C	4: 11,961,961 (GRCm39)	K117E	probably benign	Het
Phtf2	G	A	5: 20,979,020 (GRCm39)	A31V	probably damaging	Het
Pip4p2	T	A	4: 14,886,553 (GRCm39)	Y42*	probably null	Het
Pkhd1	A	T	1: 20,628,947 (GRCm39)	C667S	probably benign	Het
Pnp2	T	A	14: 51,200,878 (GRCm39)	L121Q	probably null	Het
Ppfia1	C	T	7: 144,058,707 (GRCm39)	R698Q	probably benign	Het
Sidt1	A	T	16: 44,104,587 (GRCm39)	F275I	probably benign	Het
Slc50a1	A	T	3: 89,177,207 (GRCm39)	I70N	probably damaging	Het
Sytl2	C	G	7: 90,009,367 (GRCm39)	T123R	possibly damaging	Het
Tlk1	T	A	2: 70,579,671 (GRCm39)	T214S	probably benign	Het
Tmco3	A	G	8: 13,346,114 (GRCm39)		probably benign	Het
Trim71	T	C	9: 114,344,914 (GRCm39)	T335A	probably benign	Het
Zbtb47	T	A	9: 121,592,499 (GRCm39)	V273E	possibly damaging	Het

Other mutations in E2f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0666:E2f1	UTSW	2	154,402,849 (GRCm39)	missense	probably benign	0.01
R0674:E2f1	UTSW	2	154,406,029 (GRCm39)	missense	probably damaging	1.00
R1796:E2f1	UTSW	2	154,402,849 (GRCm39)	missense	probably benign	0.02
R3747:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3751:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3752:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3753:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3844:E2f1	UTSW	2	154,402,748 (GRCm39)	missense	probably benign	0.00
R3968:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3969:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R3970:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R4409:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R4700:E2f1	UTSW	2	154,405,942 (GRCm39)	missense	probably damaging	1.00
R5396:E2f1	UTSW	2	154,406,368 (GRCm39)	missense	probably benign	0.00
R5666:E2f1	UTSW	2	154,411,101 (GRCm39)	intron	probably benign
R6368:E2f1	UTSW	2	154,406,396 (GRCm39)	missense	possibly damaging	0.81
R9348:E2f1	UTSW	2	154,402,755 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTATTCCAATGAGGCAGGAAG -3'
(R):5'- TATTTGGCAGGCACTCATGG -3'

Sequencing Primer
(F):5'- AGACAGGTGGGCATCTCCAG -3'
(R):5'- ACTCATGGCAGCCCCTC -3'

Posted On

2015-04-06