Incidental Mutation 'R3747:E2f1'
ID 309843
Institutional Source Beutler Lab
Gene Symbol E2f1
Ensembl Gene ENSMUSG00000027490
Gene Name E2F transcription factor 1
Synonyms E2F-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R3747 (G1)
Quality Score 225
Status Not 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abhd18 A G 3: 40,888,008 (GRCm39) N284S probably benign Het
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Aga T A 8: 53,970,856 (GRCm39) I192N probably benign Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Alk A G 17: 72,218,560 (GRCm39) S762P probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cby3 T C 11: 50,250,501 (GRCm39) *236R probably null Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp3a16 T A 5: 145,378,881 (GRCm39) K380M probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dazap1 C T 10: 80,123,498 (GRCm39) R391C possibly damaging Het
Dgkh T A 14: 78,821,885 (GRCm39) E876V probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Fam43a C T 16: 30,420,664 (GRCm39) T416I probably benign Het
Fam90a1a C A 8: 22,453,221 (GRCm39) S192* probably null Het
Foxd1 G C 13: 98,492,424 (GRCm39) A433P unknown Het
Garin4 T G 1: 190,896,207 (GRCm39) Q145H probably damaging Het
Gm10152 G A 7: 144,316,937 (GRCm39) probably null Het
Hipk3 T A 2: 104,271,628 (GRCm39) R435* probably null Het
Hnrnpab T A 11: 51,493,473 (GRCm39) Y245F probably benign Het
Islr2 A T 9: 58,106,925 (GRCm39) S112T probably benign Het
Itgb7 A T 15: 102,131,212 (GRCm39) V280D probably damaging Het
Kndc1 G A 7: 139,507,817 (GRCm39) probably null Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nbeal1 A G 1: 60,234,182 (GRCm39) D51G probably damaging Het
Ncoa6 G A 2: 155,253,561 (GRCm39) P939L probably benign Het
Ndst3 A G 3: 123,465,201 (GRCm39) I257T probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,795 (GRCm39) probably benign Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Osbpl7 T C 11: 96,946,879 (GRCm39) V223A probably damaging Het
Pcm1 T C 8: 41,785,041 (GRCm39) I2064T probably benign Het
Pkd1 A G 17: 24,810,435 (GRCm39) R90G possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Ppil4 A T 10: 7,690,457 (GRCm39) Q370L probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Rb1cc1 T G 1: 6,318,966 (GRCm39) V778G possibly damaging Het
Sgms1 A T 19: 32,136,994 (GRCm39) S191T possibly damaging Het
Sned1 T A 1: 93,189,473 (GRCm39) F303Y probably damaging Het
Sp9 T A 2: 73,104,652 (GRCm39) M402K probably damaging Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Tlr5 T C 1: 182,802,004 (GRCm39) I436T probably benign Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Ugt1a6a T C 1: 88,066,871 (GRCm39) Y226H probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vwa5b2 A G 16: 20,417,076 (GRCm39) probably benign Het
Yipf4 G A 17: 74,803,667 (GRCm39) probably null Het
Zdhhc17 T C 10: 110,780,281 (GRCm39) I624M probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly 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
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
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'- TTAAGACCTTGGTTTCCCAGC -3'
(R):5'- ACATTGCTAGGGAGACAGGC -3'

Sequencing Primer
(F):5'- GCCACTGCAAGCAATTTGG -3'
(R):5'- CTAGGGAGACAGGCCTGTTG -3'
Posted On 2015-04-17