Incidental Mutation 'R6368:E2f1'
ID 512778
Institutional Source Beutler Lab
Gene Symbol E2f1
Ensembl Gene ENSMUSG00000027490
Gene Name E2F transcription factor 1
Synonyms E2F-1
MMRRC Submission 044518-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R6368 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 154401327-154411812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154406396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 93 (H93Q)
Ref Sequence ENSEMBL: ENSMUSP00000099434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000103145]
AlphaFold Q61501
Predicted Effect possibly damaging
Transcript: ENSMUST00000000894
AA Change: H48Q

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490
AA Change: H48Q

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 possibly damaging
Transcript: ENSMUST00000103145
AA Change: H93Q

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490
AA Change: H93Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C A 9: 55,897,416 (GRCm39) E272D possibly damaging Het
Abi2 A G 1: 60,492,810 (GRCm39) T158A possibly damaging Het
Acacb T C 5: 114,354,884 (GRCm39) S1221P probably damaging Het
Agbl1 A G 7: 76,069,578 (GRCm39) D370G probably benign Het
Apeh A G 9: 107,964,442 (GRCm39) I487T probably damaging Het
Arid1b C A 17: 5,382,808 (GRCm39) N1297K possibly damaging Het
Ascc3 G A 10: 50,576,081 (GRCm39) G779S probably damaging Het
Atp7b A C 8: 22,510,771 (GRCm39) probably null Het
Bsn C T 9: 107,988,513 (GRCm39) probably benign Het
Caps2 C T 10: 112,030,873 (GRCm39) Q268* probably null Het
Cnfn C T 7: 25,067,386 (GRCm39) probably null Het
Cr2 A G 1: 194,850,780 (GRCm39) S229P probably damaging Het
Cubn T C 2: 13,435,806 (GRCm39) Y1050C probably damaging Het
Cubn T C 2: 13,480,934 (GRCm39) E307G probably damaging Het
Cyb5r3 A C 15: 83,044,325 (GRCm39) Y182D possibly damaging Het
Dclre1a A T 19: 56,535,223 (GRCm39) H120Q probably benign Het
Ddx6 T C 9: 44,547,073 (GRCm39) I457T probably damaging Het
Fam186a T C 15: 99,841,198 (GRCm39) K1682R possibly damaging Het
Farsb A G 1: 78,443,602 (GRCm39) probably null Het
Flii A T 11: 60,611,962 (GRCm39) L347Q probably damaging Het
Galntl6 T G 8: 59,364,475 (GRCm39) T12P probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm21680 T C 5: 26,174,034 (GRCm39) N190S probably damaging Het
Ifit1bl2 T C 19: 34,596,525 (GRCm39) S364G probably benign Het
Kdm2a A G 19: 4,400,345 (GRCm39) I234T probably damaging Het
Kdm5b T C 1: 134,526,945 (GRCm39) C356R probably damaging Het
Kel A T 6: 41,665,785 (GRCm39) C174* probably null Het
Krt16 T A 11: 100,137,502 (GRCm39) D401V probably damaging Het
Ltb4r1 A C 14: 56,005,200 (GRCm39) I168L probably benign Het
Luzp1 T A 4: 136,269,091 (GRCm39) M438K probably benign Het
Mtf1 C T 4: 124,718,145 (GRCm39) T281M probably damaging Het
Myo9a T A 9: 59,832,231 (GRCm39) S2587T probably benign Het
Or13a21 G T 7: 139,999,580 (GRCm39) Y35* probably null Het
Or1ad1 T A 11: 50,875,613 (GRCm39) F28L probably benign Het
Or4f58 A T 2: 111,851,896 (GRCm39) I101N probably damaging Het
Or7e169 T C 9: 19,757,705 (GRCm39) D70G probably damaging Het
Pcm1 T A 8: 41,746,581 (GRCm39) F1221Y probably benign Het
Pnldc1 A T 17: 13,124,751 (GRCm39) N90K probably damaging Het
Prickle2 A T 6: 92,397,218 (GRCm39) L169Q probably damaging Het
Ralgps2 A T 1: 156,712,144 (GRCm39) L147I probably damaging Het
Rfx3 A T 19: 27,746,009 (GRCm39) L674Q possibly damaging Het
Rpl3 C A 15: 79,966,745 (GRCm39) L14F probably damaging Het
Rrbp1 C T 2: 143,831,475 (GRCm39) G231R probably damaging Het
Sema3d C T 5: 12,620,980 (GRCm39) L529F probably damaging Het
Slain1 A T 14: 103,894,391 (GRCm39) T193S probably benign Het
Slc2a6 G T 2: 26,914,599 (GRCm39) Q256K possibly damaging Het
Slk A G 19: 47,608,622 (GRCm39) E525G possibly damaging Het
Spsb4 G T 9: 96,826,698 (GRCm39) Q252K probably benign Het
Taf1b A G 12: 24,608,256 (GRCm39) T552A possibly damaging Het
Tmprss15 T C 16: 78,802,945 (GRCm39) probably null Het
Tph2 T C 10: 115,015,231 (GRCm39) H177R probably damaging Het
Ttll1 A G 15: 83,373,818 (GRCm39) S332P probably damaging Het
Twf2 T G 9: 106,090,032 (GRCm39) N128K probably benign Het
Vegfc T A 8: 54,634,265 (GRCm39) C315S probably damaging Het
Vmn2r111 T A 17: 22,790,889 (GRCm39) K136N probably benign Het
Wnk2 T C 13: 49,214,814 (GRCm39) E496G probably damaging Het
Zfp148 C A 16: 33,317,568 (GRCm39) Q705K probably damaging Het
Zw10 C T 9: 48,984,535 (GRCm39) A539V 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
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
R9348:E2f1 UTSW 2 154,402,755 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGCATTCCTCTTGTAGCTGG -3'
(R):5'- AGTGGTAGGATGCTAGCCTC -3'

Sequencing Primer
(F):5'- CTTGTAGCTGGGCAACTCC -3'
(R):5'- CATGCTGTGTCCTTCAGAATCTG -3'
Posted On 2018-04-27