Incidental Mutation 'R5564:E2f6'
ID 436764
Institutional Source Beutler Lab
Gene Symbol E2f6
Ensembl Gene ENSMUSG00000057469
Gene Name E2F transcription factor 6
Synonyms EMA
MMRRC Submission 043121-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # R5564 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 16860932-16876753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16874706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 263 (C263R)
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: C263R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469
AA Change: C263R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,659,513 (GRCm39) V322A probably benign Het
Abca8b G T 11: 109,825,407 (GRCm39) L1598M probably benign Het
Adam4 T C 12: 81,466,348 (GRCm39) T758A probably benign Het
B3galnt2 T C 13: 14,169,814 (GRCm39) I424T probably damaging Het
Cacna1g T C 11: 94,321,312 (GRCm39) Y1316C probably damaging Het
Cacna2d1 T C 5: 16,517,517 (GRCm39) S388P probably damaging Het
Ccdc157 A G 11: 4,098,765 (GRCm39) L247S probably damaging Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cdhr3 G T 12: 33,098,985 (GRCm39) Y535* probably null Het
Clasp2 T C 9: 113,641,836 (GRCm39) probably null Het
Col16a1 T A 4: 129,947,151 (GRCm39) D165E probably damaging Het
Col9a1 A T 1: 24,234,436 (GRCm39) probably benign Het
Cpa3 A T 3: 20,296,307 (GRCm39) I10N possibly damaging Het
Cstf3 T A 2: 104,439,347 (GRCm39) probably benign Het
Dnah3 C A 7: 119,570,689 (GRCm39) probably null Het
Eps8l2 C A 7: 140,936,534 (GRCm39) Q288K possibly damaging Het
Fam193a T A 5: 34,578,199 (GRCm39) V231D probably damaging Het
Gjd3 C T 11: 102,691,029 (GRCm39) G325S probably benign Het
Gpatch8 T A 11: 102,429,111 (GRCm39) E39D unknown Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Kansl3 G T 1: 36,385,045 (GRCm39) H629N possibly damaging Het
Kcna10 C A 3: 107,101,545 (GRCm39) H59N probably benign Het
Kitl A T 10: 99,915,886 (GRCm39) E138D possibly damaging Het
Kpna2 T C 11: 106,881,571 (GRCm39) K353R probably damaging Het
M1ap T A 6: 82,958,798 (GRCm39) I143N probably damaging Het
Macf1 A G 4: 123,420,538 (GRCm39) S239P possibly damaging Het
Med13l T A 5: 118,880,105 (GRCm39) S1066T probably damaging Het
Mettl23 G T 11: 116,739,865 (GRCm39) E47* probably null Het
Or52i2 T C 7: 102,319,433 (GRCm39) F102S probably damaging Het
Or5af1 C T 11: 58,722,039 (GRCm39) Q20* probably null Het
Proca1 T A 11: 78,092,699 (GRCm39) D48E possibly damaging Het
Rab34 T G 11: 78,082,458 (GRCm39) V227G probably damaging Het
Rab7 A T 6: 87,990,632 (GRCm39) L14Q probably damaging Het
Rasgef1c C T 11: 49,847,934 (GRCm39) S23F probably benign Het
Rit1 A G 3: 88,633,457 (GRCm39) probably benign Het
Scin T C 12: 40,174,568 (GRCm39) T172A probably benign Het
Scmh1 C A 4: 120,325,575 (GRCm39) N97K probably damaging Het
Skint6 T C 4: 112,846,162 (GRCm39) E655G possibly damaging Het
Slc22a15 A G 3: 101,771,905 (GRCm39) V243A probably benign Het
Smg1 A G 7: 117,789,042 (GRCm39) probably benign Het
Smim7 C T 8: 73,324,867 (GRCm39) G3R probably damaging Het
Snurf C T 7: 59,645,282 (GRCm39) R44H possibly damaging Het
Snx13 G A 12: 35,174,471 (GRCm39) A667T possibly damaging Het
Sowaha T G 11: 53,369,590 (GRCm39) H382P probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem259 G T 10: 79,814,442 (GRCm39) probably null Het
Topbp1 A G 9: 103,211,277 (GRCm39) T945A probably damaging Het
Tor1aip2 T C 1: 155,939,307 (GRCm39) probably benign Het
Ube3b T C 5: 114,527,136 (GRCm39) V118A probably damaging Het
Usp38 T C 8: 81,711,717 (GRCm39) K773E probably damaging Het
Wnk1 G A 6: 119,925,852 (GRCm39) probably benign Het
Zfp871 A G 17: 32,994,842 (GRCm39) V111A 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
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
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'- GCTCACCTTGACAGTTTCTGTG -3'
(R):5'- GTGCTCCCTCCAAACTGTAC -3'

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