Incidental Mutation 'R3751:E2f1'
ID 271196
Institutional Source Beutler Lab
Gene Symbol E2f1
Ensembl Gene ENSMUSG00000027490
Gene Name E2F transcription factor 1
Synonyms E2F-1
MMRRC Submission 040736-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R3751 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 154401327-154411812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 154405942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 144 (G144R)
Ref Sequence ENSEMBL: ENSMUSP00000099434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000103145]
AlphaFold Q61501
Predicted Effect probably damaging
Transcript: ENSMUST00000000894
AA Change: G99R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490
AA Change: G99R

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000103145
AA Change: G144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490
AA Change: G144R

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6284 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 93% (43/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G T 7: 12,289,973 (GRCm39) R183I probably benign Het
BC016579 A T 16: 45,453,361 (GRCm39) probably null Het
BC051665 A T 13: 60,931,145 (GRCm39) F258I probably damaging Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Ccdc125 A G 13: 100,814,459 (GRCm39) D13G possibly damaging Het
Ceacam18 T A 7: 43,291,372 (GRCm39) H271Q probably damaging Het
Cep104 A G 4: 154,066,213 (GRCm39) Y137C probably damaging Het
Clca3a1 A G 3: 144,724,424 (GRCm39) V212A probably benign Het
Clca3a2 A T 3: 144,777,216 (GRCm39) M885K probably benign Het
Col6a4 G T 9: 105,949,313 (GRCm39) T774N probably damaging Het
D430041D05Rik T C 2: 104,085,403 (GRCm39) T1049A possibly damaging Het
Dlk1 A G 12: 109,426,239 (GRCm39) I276V probably benign Het
Efcab9 T C 11: 32,477,420 (GRCm39) H34R probably benign Het
Erc1 T A 6: 119,801,921 (GRCm39) H32L probably damaging Het
Ezh2 T C 6: 47,532,998 (GRCm39) I141M possibly damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Itpr1 T A 6: 108,326,641 (GRCm39) I121N probably damaging Het
Krtap17-1 A T 11: 99,884,481 (GRCm39) C95* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Man2c1 A G 9: 57,048,058 (GRCm39) Y748C probably damaging Het
Map4 A G 9: 109,867,742 (GRCm39) probably benign Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Mtmr9 A G 14: 63,780,997 (GRCm39) L31P probably damaging Het
Myo5c A G 9: 75,183,284 (GRCm39) Q886R probably damaging Het
Nhsl3 A G 4: 129,118,115 (GRCm39) probably benign Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or6c38 T A 10: 128,929,175 (GRCm39) I223F probably damaging Het
Or7h8 C T 9: 20,124,556 (GRCm39) L304F probably damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pdgfd A T 9: 6,337,447 (GRCm39) probably benign Het
Ppm1k T G 6: 57,501,845 (GRCm39) E106A probably benign Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Rnf214 A C 9: 45,778,901 (GRCm39) I581S probably damaging Het
Scaf11 A G 15: 96,316,417 (GRCm39) V1049A probably damaging Het
Slc51a A G 16: 32,295,292 (GRCm39) L262P probably benign Het
Slc6a21 G A 7: 44,929,928 (GRCm39) V139I probably benign Het
Slc8a3 G T 12: 81,250,912 (GRCm39) L684M probably damaging Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Tnks1bp1 C T 2: 84,889,066 (GRCm39) probably benign Het
Vmn1r189 T C 13: 22,286,382 (GRCm39) T152A probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp366 A G 13: 99,365,352 (GRCm39) Y171C probably damaging Het
Other mutations in E2f1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R3843:E2f1 UTSW 2 154,402,748 (GRCm39) missense probably benign 0.00
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'- TAAGACCTTGGTTTCCCAGC -3'
(R):5'- TACATTGCTAGGGAGACAGGC -3'

Sequencing Primer
(F):5'- GCCACTGCAAGCAATTTGG -3'
(R):5'- CTAGGGAGACAGGCCTGTTG -3'
Posted On 2015-03-18