Incidental Mutation 'IGL01843:E2f7'
ID278933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f7
Ensembl Gene ENSMUSG00000020185
Gene NameE2F transcription factor 7
SynonymsD10Ertd739e, A630014C11Rik, E2F7
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.265) question?
Stock #IGL01843
Quality Score
Status
Chromosome10
Chromosomal Location110745439-110787384 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 110774735 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 407 (V407G)
Ref Sequence ENSEMBL: ENSMUSP00000133494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471]
Predicted Effect probably benign
Transcript: ENSMUST00000073781
AA Change: V407G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: V407G

DomainStartEndE-ValueType
E2F_TDP 143 212 1.12e-28 SMART
E2F_TDP 283 368 1.28e-32 SMART
low complexity region 591 602 N/A INTRINSIC
low complexity region 755 767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173471
AA Change: V407G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: V407G

DomainStartEndE-ValueType
Pfam:E2F_TDP 143 212 1.8e-23 PFAM
Pfam:E2F_TDP 283 368 3.7e-24 PFAM
low complexity region 591 602 N/A INTRINSIC
low complexity region 755 767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173948
SMART Domains Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185

DomainStartEndE-ValueType
E2F_TDP 29 98 1.12e-28 SMART
E2F_TDP 169 219 3.34e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,553,338 probably benign Het
Ap1b1 T C 11: 5,039,169 L782P probably damaging Het
Arid1a T C 4: 133,681,454 D1914G unknown Het
C8a G A 4: 104,862,611 Q57* probably null Het
Cachd1 T C 4: 100,992,872 S1144P probably damaging Het
Cdh23 A T 10: 60,419,819 probably null Het
Cenpe A G 3: 135,218,507 Q198R possibly damaging Het
Cpne8 T C 15: 90,569,497 I228V probably benign Het
Cr2 A T 1: 195,150,914 probably benign Het
Csmd3 T C 15: 47,658,999 probably benign Het
Cyp2c23 A G 19: 44,005,607 V440A probably benign Het
Dag1 T C 9: 108,208,082 D620G possibly damaging Het
Dmxl1 T A 18: 49,878,382 L1202* probably null Het
Dnah3 T G 7: 119,943,575 H3538P probably benign Het
Dock8 A T 19: 25,089,928 Q312L probably benign Het
F13b T C 1: 139,516,427 S500P probably damaging Het
F5 A G 1: 164,211,826 I2002V probably benign Het
Flywch1 T A 17: 23,760,345 M439L possibly damaging Het
Gcn1l1 C A 5: 115,619,700 A2488E probably damaging Het
Gria1 T C 11: 57,317,774 S832P probably damaging Het
Hnrnpr T C 4: 136,339,413 probably benign Het
Hps3 A G 3: 20,029,001 I177T probably benign Het
Irgm2 G A 11: 58,220,341 G298D probably benign Het
Kcnk7 G A 19: 5,706,202 G152D probably damaging Het
Man2a2 T C 7: 80,362,906 T620A probably benign Het
Mapk12 A G 15: 89,137,466 probably benign Het
Mapk6 T C 9: 75,390,290 Y315C probably damaging Het
Mdga2 T A 12: 66,723,131 probably null Het
Met T A 6: 17,491,701 I154N probably damaging Het
Nap1l1 A G 10: 111,492,911 R234G possibly damaging Het
Olfm5 C A 7: 104,160,744 V137F possibly damaging Het
Olfr1423 G T 19: 12,036,677 H22N probably benign Het
Pcdha11 C T 18: 37,012,833 T659I probably benign Het
Pfkm T C 15: 98,129,306 V620A possibly damaging Het
Rbak A G 5: 143,176,600 probably benign Het
Rbl2 A G 8: 91,090,216 I401M probably benign Het
Rragc T C 4: 123,921,059 S183P probably damaging Het
Sept3 A G 15: 82,279,613 probably benign Het
Skiv2l2 T C 13: 112,918,561 probably benign Het
Slc22a6 A T 19: 8,626,214 probably benign Het
Spag4 A T 2: 156,068,497 T348S probably benign Het
Sptbn1 T C 11: 30,104,623 R2157G probably benign Het
Tmem168 G A 6: 13,582,941 T263M probably damaging Het
Tnik T A 3: 28,570,858 probably null Het
Tnpo2 T A 8: 85,050,508 V549E probably damaging Het
Ttll7 A C 3: 146,940,021 K545Q possibly damaging Het
Tubgcp5 T G 7: 55,799,473 D139E probably benign Het
Vmn1r233 T A 17: 20,994,599 N30Y probably damaging Het
Vmn2r25 T G 6: 123,853,003 D63A possibly damaging Het
Vmn2r79 T A 7: 87,037,277 L622Q probably damaging Het
Vmn2r84 T C 10: 130,386,279 M691V probably benign Het
Zc3hc1 A T 6: 30,372,730 probably benign Het
Other mutations in E2f7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:E2f7 APN 10 110754093 missense probably benign 0.09
IGL01592:E2f7 APN 10 110746406 missense possibly damaging 0.86
IGL01614:E2f7 APN 10 110759978 missense probably damaging 1.00
IGL01829:E2f7 APN 10 110779094 missense probably benign 0.00
IGL02683:E2f7 APN 10 110782459 missense probably benign 0.28
IGL03229:E2f7 APN 10 110754346 missense probably benign 0.04
R0245:E2f7 UTSW 10 110774795 nonsense probably null
R2108:E2f7 UTSW 10 110780902 missense probably benign 0.20
R2259:E2f7 UTSW 10 110746343 missense probably damaging 0.99
R3408:E2f7 UTSW 10 110784717 missense possibly damaging 0.57
R4356:E2f7 UTSW 10 110759851 missense probably damaging 0.98
R4542:E2f7 UTSW 10 110767123 missense probably damaging 1.00
R4763:E2f7 UTSW 10 110780849 missense probably damaging 0.97
R5236:E2f7 UTSW 10 110767209 missense probably damaging 1.00
R5520:E2f7 UTSW 10 110759945 missense probably damaging 1.00
R6481:E2f7 UTSW 10 110774681 missense probably damaging 1.00
Posted On2015-04-16