Incidental Mutation 'IGL03162:E2f6'
ID411467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f6
Ensembl Gene ENSMUSG00000057469
Gene NameE2F transcription factor 6
SynonymsEMA
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.538) question?
Stock #IGL03162
Quality Score
Status
Chromosome12
Chromosomal Location16810963-16839742 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 16818908 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 77 (D77E)
Ref Sequence ENSEMBL: ENSMUSP00000020908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020908] [ENSMUST00000220794] [ENSMUST00000221541] [ENSMUST00000221934]
Predicted Effect probably benign
Transcript: ENSMUST00000020908
AA Change: D77E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469
AA Change: D77E

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Adh6a T A 3: 138,329,119 Y336* probably null Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klhl2 A G 8: 64,754,392 V311A probably damaging Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Nr3c2 A T 8: 77,217,584 D816V probably damaging Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Olfr518 T C 7: 108,881,604 M1V probably null Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Recql4 G T 15: 76,706,096 probably null Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Vpreb3 A G 10: 75,949,299 Y77C probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V probably benign Het
Other mutations in E2f6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:E2f6 APN 12 16825368 missense probably benign 0.23
IGL01985:E2f6 APN 12 16819063 splice site probably null
IGL03206:E2f6 APN 12 16822089 splice site probably benign
BB007:E2f6 UTSW 12 16819057 missense probably damaging 0.98
BB017:E2f6 UTSW 12 16819057 missense probably damaging 0.98
R0437:E2f6 UTSW 12 16816445 missense probably benign 0.04
R1830:E2f6 UTSW 12 16818883 missense probably benign 0.00
R1898:E2f6 UTSW 12 16824580 missense probably benign 0.01
R5536:E2f6 UTSW 12 16824684 missense probably benign 0.34
R5564:E2f6 UTSW 12 16824705 missense probably benign
R6714:E2f6 UTSW 12 16819002 missense probably damaging 0.98
R7522:E2f6 UTSW 12 16822124 missense probably benign
R7794:E2f6 UTSW 12 16820369 missense possibly damaging 0.87
R7930:E2f6 UTSW 12 16819057 missense probably damaging 0.98
Z1176:E2f6 UTSW 12 16820273 missense possibly damaging 0.68
Posted On2016-08-02