Incidental Mutation 'R6714:E2f6'
ID 529264
Institutional Source Beutler Lab
Gene Symbol E2f6
Ensembl Gene ENSMUSG00000057469
Gene Name E2F transcription factor 6
Synonyms EMA
MMRRC Submission 044832-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # R6714 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 16860932-16876753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16869003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 109 (V109I)
Ref Sequence ENSEMBL: ENSMUSP00000020908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020908] [ENSMUST00000220794] [ENSMUST00000221541] [ENSMUST00000221934]
AlphaFold O54917
Predicted Effect probably damaging
Transcript: ENSMUST00000020908
AA Change: V109I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469
AA Change: V109I

DomainStartEndE-ValueType
E2F_TDP 63 128 2.04e-31 SMART
Pfam:E2F_CC-MB 143 237 8.2e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220707
Predicted Effect probably benign
Transcript: ENSMUST00000220794
Predicted Effect probably benign
Transcript: ENSMUST00000221541
Predicted Effect probably benign
Transcript: ENSMUST00000221934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222582
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (48/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Both homozygous and heterozygous null mice exhibit subtle posterior transformations of the axial skeleton with incomplete penetrance. In addition to skeletal transformations, male mice homozygous for one knock-out allele display defective spermatocyte development and Leydig cell hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC061237 A T 14: 44,741,639 (GRCm39) R127S possibly damaging Het
Bub1 C A 2: 127,656,652 (GRCm39) M463I probably benign Het
Cdh23 T C 10: 60,167,609 (GRCm39) I1794V possibly damaging Het
Clspn C T 4: 126,459,561 (GRCm39) T320M probably damaging Het
Coch A C 12: 51,649,520 (GRCm39) D277A probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dnah7c A T 1: 46,779,966 (GRCm39) I3223F probably damaging Het
Edem2 A T 2: 155,570,809 (GRCm39) probably null Het
Efcab8 A G 2: 153,631,130 (GRCm39) K187E probably damaging Het
Fam184a T C 10: 53,574,979 (GRCm39) N210S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,809,878 (GRCm39) I2066V probably benign Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gpc5 C T 14: 115,789,715 (GRCm39) Q530* probably null Het
Hmcn1 A T 1: 150,579,926 (GRCm39) I1937K probably damaging Het
Hpx G A 7: 105,244,302 (GRCm39) R269C probably damaging Het
Ice1 T C 13: 70,763,382 (GRCm39) probably null Het
Kbtbd4 A T 2: 90,736,183 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,783,297 (GRCm39) T310A probably benign Het
Lrp4 G A 2: 91,306,710 (GRCm39) S341N possibly damaging Het
Map3k3 T C 11: 106,005,048 (GRCm39) V69A possibly damaging Het
Myh8 T C 11: 67,197,775 (GRCm39) Y1881H probably damaging Het
Nectin4 A T 1: 171,198,218 (GRCm39) probably benign Het
Nhsl1 G T 10: 18,400,459 (GRCm39) V562L possibly damaging Het
Or4k5 A T 14: 50,385,671 (GRCm39) I220K possibly damaging Het
Or6c205 T A 10: 129,086,809 (GRCm39) N135K possibly damaging Het
Pcdhga7 T A 18: 37,850,330 (GRCm39) V779E probably benign Het
Peg12 T A 7: 62,113,317 (GRCm39) H260L unknown Het
Qrfpr A T 3: 36,234,405 (GRCm39) M312K possibly damaging Het
Rbl2 T A 8: 91,833,415 (GRCm39) I730N possibly damaging Het
Rbm39 G C 2: 156,003,538 (GRCm39) L281V possibly damaging Het
Setd1b A G 5: 123,295,654 (GRCm39) E1074G unknown Het
Sfr1 A G 19: 47,723,405 (GRCm39) D303G probably damaging Het
Slc7a12 T C 3: 14,546,380 (GRCm39) V175A probably benign Het
Slc8a1 A T 17: 81,715,678 (GRCm39) L785Q probably damaging Het
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spg11 T C 2: 121,926,212 (GRCm39) I694M probably damaging Het
Tasor2 A T 13: 3,644,189 (GRCm39) F143L probably benign Het
Trpc1 A T 9: 95,605,326 (GRCm39) L111Q probably damaging Het
Tti1 A G 2: 157,848,971 (GRCm39) V756A possibly damaging Het
Unc93a2 T G 17: 7,643,937 (GRCm39) E124A probably benign Het
Usp32 A T 11: 84,917,696 (GRCm39) I777N probably damaging Het
Zbtb8b C T 4: 129,326,776 (GRCm39) E97K probably damaging Het
Zfhx4 A G 3: 5,306,897 (GRCm39) D41G probably damaging Het
Zfp493 A T 13: 67,934,499 (GRCm39) S151C probably benign Het
Zfp503 T C 14: 22,035,825 (GRCm39) T364A probably benign Het
Zfp507 T C 7: 35,487,152 (GRCm39) K772R probably damaging Het
Zfp804b T A 5: 6,819,239 (GRCm39) M1275L probably benign Het
Zfp811 G A 17: 33,016,736 (GRCm39) H434Y probably damaging Het
Other mutations in E2f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:E2f6 APN 12 16,875,369 (GRCm39) missense probably benign 0.23
IGL01985:E2f6 APN 12 16,869,064 (GRCm39) splice site probably null
IGL03162:E2f6 APN 12 16,868,909 (GRCm39) missense probably benign 0.03
IGL03206:E2f6 APN 12 16,872,090 (GRCm39) splice site probably benign
BB007:E2f6 UTSW 12 16,869,058 (GRCm39) missense probably damaging 0.98
BB017:E2f6 UTSW 12 16,869,058 (GRCm39) missense probably damaging 0.98
R0437:E2f6 UTSW 12 16,866,446 (GRCm39) missense probably benign 0.04
R1830:E2f6 UTSW 12 16,868,884 (GRCm39) missense probably benign 0.00
R1898:E2f6 UTSW 12 16,874,581 (GRCm39) missense probably benign 0.01
R5536:E2f6 UTSW 12 16,874,685 (GRCm39) missense probably benign 0.34
R5564:E2f6 UTSW 12 16,874,706 (GRCm39) missense probably benign
R7522:E2f6 UTSW 12 16,872,125 (GRCm39) missense probably benign
R7794:E2f6 UTSW 12 16,870,370 (GRCm39) missense possibly damaging 0.87
R7930:E2f6 UTSW 12 16,869,058 (GRCm39) missense probably damaging 0.98
Z1176:E2f6 UTSW 12 16,870,274 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- ATGTCGGTTCACATGGTCCTC -3'
(R):5'- TTAAGTACACCGTGAGACGAG -3'

Sequencing Primer
(F):5'- GGTCCTCTGCCCTCATTTACAGAAG -3'
(R):5'- CAACCTTAAGGAATCAATTTTGGCC -3'
Posted On 2018-07-24