Incidental Mutation 'IGL03206:E2f6'
ID 413165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f6
Ensembl Gene ENSMUSG00000057469
Gene Name E2F transcription factor 6
Synonyms EMA
Accession Numbers
Essential gene? Possibly essential (E-score: 0.605) question?
Stock # IGL03206
Quality Score
Status
Chromosome 12
Chromosomal Location 16860932-16876753 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 16872090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020908] [ENSMUST00000220794] [ENSMUST00000221541] [ENSMUST00000221934]
AlphaFold O54917
Predicted Effect probably benign
Transcript: ENSMUST00000020908
SMART Domains Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,239 (GRCm39) E939D possibly damaging Het
Aloxe3 C A 11: 69,020,472 (GRCm39) A172D possibly damaging Het
Bscl2 G A 19: 8,820,453 (GRCm39) R158Q probably damaging Het
Cdon A G 9: 35,414,602 (GRCm39) D1159G probably benign Het
Cep164 A G 9: 45,714,023 (GRCm39) V203A probably benign Het
Chml T C 1: 175,515,303 (GRCm39) D206G probably benign Het
Emilin3 T A 2: 160,752,719 (GRCm39) Y77F probably damaging Het
Fbxw15 A T 9: 109,394,430 (GRCm39) N128K possibly damaging Het
Gjd2 A G 2: 113,842,204 (GRCm39) L91P probably damaging Het
Gm12830 T A 4: 114,702,314 (GRCm39) probably benign Het
Gpr161 T A 1: 165,149,218 (GRCm39) L529Q probably damaging Het
Hoxd10 T A 2: 74,522,776 (GRCm39) Y151* probably null Het
Iars1 A G 13: 49,846,546 (GRCm39) D215G possibly damaging Het
Ift140 T C 17: 25,311,800 (GRCm39) V1241A probably damaging Het
Kdm5b A G 1: 134,555,055 (GRCm39) N1321S probably benign Het
Lrat T A 3: 82,810,656 (GRCm39) I122F probably damaging Het
Myl10 C T 5: 136,726,796 (GRCm39) Q106* probably null Het
Ncapd2 A T 6: 125,148,660 (GRCm39) Y1018N possibly damaging Het
Ndrg1 C T 15: 66,814,936 (GRCm39) W172* probably null Het
Nphs2 T C 1: 156,153,701 (GRCm39) M264T probably damaging Het
Nrxn3 A T 12: 89,227,278 (GRCm39) R677S possibly damaging Het
Nudt12 T C 17: 59,314,667 (GRCm39) T306A probably benign Het
Numb A G 12: 83,872,070 (GRCm39) probably benign Het
Or10h28 T A 17: 33,487,725 (GRCm39) I9K possibly damaging Het
Or2y1 A T 11: 49,385,536 (GRCm39) M59L probably benign Het
Or5p58 C T 7: 107,694,261 (GRCm39) C172Y probably damaging Het
Pbld2 T A 10: 62,883,261 (GRCm39) D94E probably benign Het
Pkd1l3 C A 8: 110,350,345 (GRCm39) Q397K probably benign Het
Ppp4r3a A T 12: 101,024,878 (GRCm39) L207H probably damaging Het
Ranbp2 T A 10: 58,301,369 (GRCm39) I674N probably damaging Het
Retnlg G T 16: 48,694,655 (GRCm39) C101F probably damaging Het
Rif1 T A 2: 51,993,634 (GRCm39) I849N probably damaging Het
Serpinb9d T C 13: 33,382,014 (GRCm39) I161T possibly damaging Het
Slc17a6 T C 7: 51,315,771 (GRCm39) probably benign Het
Smg8 A C 11: 86,976,814 (GRCm39) probably null Het
Spata31d1c C A 13: 65,183,407 (GRCm39) N316K probably benign Het
Tlr1 A G 5: 65,082,400 (GRCm39) S726P probably damaging Het
Trim69 A C 2: 122,003,636 (GRCm39) D195A probably benign Het
Ttc16 T G 2: 32,661,897 (GRCm39) probably null Het
Usp53 T A 3: 122,746,832 (GRCm39) M405L probably benign Het
Ywhag G A 5: 135,939,914 (GRCm39) R227* probably null Het
Zfp335 G T 2: 164,734,601 (GRCm39) probably benign Het
Zfp607a T C 7: 27,577,248 (GRCm39) I106T possibly damaging Het
Zfp959 T C 17: 56,204,613 (GRCm39) S214P possibly damaging Het
Zfyve9 T C 4: 108,546,406 (GRCm39) M868V possibly 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
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
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
Posted On 2016-08-02