Incidental Mutation 'IGL01985:E2f6'
ID 181891
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: 0.628) question?
Stock # IGL01985
Quality Score
Status
Chromosome 12
Chromosomal Location 16860932-16876753 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 16869064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020908] [ENSMUST00000220794] [ENSMUST00000221541] [ENSMUST00000221934]
AlphaFold O54917
Predicted Effect probably null
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G A 4: 144,442,024 (GRCm39) Q76* probably null Het
Cass4 A C 2: 172,269,126 (GRCm39) S403R probably damaging Het
Ccdc175 A T 12: 72,175,052 (GRCm39) Y540* probably null Het
Cep164 C T 9: 45,690,904 (GRCm39) E1266K probably damaging Het
Clec12b T A 6: 129,359,334 (GRCm39) probably benign Het
Col6a5 T C 9: 105,814,482 (GRCm39) K510R unknown Het
Crisp4 G A 1: 18,204,289 (GRCm39) P101S probably damaging Het
Dapk1 T C 13: 60,884,074 (GRCm39) L614P probably damaging Het
Dip2c T C 13: 9,603,303 (GRCm39) probably benign Het
Dock7 A G 4: 98,911,614 (GRCm39) F589L probably benign Het
Dvl2 T A 11: 69,899,119 (GRCm39) V459E probably damaging Het
Exph5 T C 9: 53,287,869 (GRCm39) L1650P probably damaging Het
Farp2 A G 1: 93,535,324 (GRCm39) Y691C probably damaging Het
Fshb T C 2: 106,889,173 (GRCm39) T44A probably benign Het
Gm28044 T A 13: 67,495,958 (GRCm39) K28* probably null Het
Il12b G A 11: 44,298,881 (GRCm39) W112* probably null Het
Ino80 T C 2: 119,263,802 (GRCm39) T621A probably damaging Het
Irx5 T A 8: 93,086,155 (GRCm39) probably benign Het
Jmy T C 13: 93,596,144 (GRCm39) H495R possibly damaging Het
Kif21a A T 15: 90,875,970 (GRCm39) V321D probably damaging Het
Lrrc10 T A 10: 116,881,921 (GRCm39) D198E probably damaging Het
Lrsam1 T C 2: 32,818,103 (GRCm39) E651G probably benign Het
Mtarc1 A G 1: 184,519,931 (GRCm39) V230A probably damaging Het
Mylk4 T A 13: 32,901,564 (GRCm39) I475L possibly damaging Het
Myom3 G A 4: 135,493,013 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,442 (GRCm39) V196E probably benign Het
Pah G A 10: 87,414,844 (GRCm39) V399M probably damaging Het
Pik3r4 G A 9: 105,540,244 (GRCm39) E711K probably benign Het
Rbbp6 A G 7: 122,570,296 (GRCm39) K38E probably damaging Het
Ror1 G A 4: 100,283,161 (GRCm39) V409M possibly damaging Het
Slc6a11 T A 6: 114,111,853 (GRCm39) V140D probably benign Het
Srebf2 G T 15: 82,076,560 (GRCm39) A737S probably benign Het
Tcerg1 A G 18: 42,663,721 (GRCm39) T303A unknown Het
Tmem74 A T 15: 43,730,476 (GRCm39) I189N probably damaging Het
Tnr A G 1: 159,746,607 (GRCm39) D1242G possibly damaging Het
U2surp A T 9: 95,372,279 (GRCm39) F293L probably damaging Het
Uchl5 G A 1: 143,661,864 (GRCm39) probably benign Het
Usp34 T A 11: 23,402,565 (GRCm39) C2472S probably damaging Het
Usp42 G A 5: 143,700,940 (GRCm39) R1028W probably damaging Het
Vmn2r10 A G 5: 109,154,125 (GRCm39) S60P probably benign Het
Vmn2r31 G T 7: 7,397,510 (GRCm39) D249E probably benign Het
Vnn1 C T 10: 23,776,642 (GRCm39) T331I probably benign Het
Zmym6 G T 4: 126,994,541 (GRCm39) V232F probably damaging Het
Other mutations in E2f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:E2f6 APN 12 16,875,369 (GRCm39) missense probably benign 0.23
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
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 2014-05-07