Incidental Mutation 'R5536:E2f6'
ID 434837
Institutional Source Beutler Lab
Gene Symbol E2f6
Ensembl Gene ENSMUSG00000057469
Gene Name E2F transcription factor 6
Synonyms EMA
MMRRC Submission 043094-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 16860932-16876753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 16874685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 256 (S256A)
Ref Sequence ENSEMBL: ENSMUSP00000020908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020908] [ENSMUST00000220794] [ENSMUST00000221541] [ENSMUST00000221934]
AlphaFold O54917
Predicted Effect probably benign
Transcript: ENSMUST00000020908
AA Change: S256A

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469
AA Change: S256A

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 noncoding transcript
Transcript: ENSMUST00000221600
Predicted Effect probably benign
Transcript: ENSMUST00000221934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222582
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A 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
R5564:E2f6 UTSW 12 16,874,706 (GRCm39) missense probably benign
R6714:E2f6 UTSW 12 16,869,003 (GRCm39) missense probably damaging 0.98
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'- AAAAGCTGTGATTAGTGGATGCTG -3'
(R):5'- GTGCTCCCTCCAAACTGTAC -3'

Sequencing Primer
(F):5'- AGTGGATGCTGGTGCTCAC -3'
(R):5'- TGTGTGGAGACAGGCTCACTAC -3'
Posted On 2016-10-24