Incidental Mutation 'IGL01614:E2f7'
ID92322
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? Probably non essential (E-score: 0.193) question?
Stock #IGL01614
Quality Score
Status
Chromosome10
Chromosomal Location110745439-110787384 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110759978 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471] [ENSMUST00000174857]
Predicted Effect probably benign
Transcript: ENSMUST00000073781
AA Change: V178A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: V178A

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 noncoding transcript
Transcript: ENSMUST00000172574
Predicted Effect probably benign
Transcript: ENSMUST00000173471
AA Change: V178A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: V178A

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 damaging
Transcript: ENSMUST00000173948
AA Change: V63A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185
AA Change: V63A

DomainStartEndE-ValueType
E2F_TDP 29 98 1.12e-28 SMART
E2F_TDP 169 219 3.34e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174810
Predicted Effect probably benign
Transcript: ENSMUST00000174857
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
Clptm1 A T 7: 19,637,700 D269E probably benign Het
Eif4e1b T A 13: 54,786,916 I184N probably damaging Het
Fam49a T C 12: 12,361,573 probably null Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr1044 A T 2: 86,171,397 I140N possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Slc25a23 C T 17: 57,045,579 R435Q probably null Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Tal1 A C 4: 115,063,128 probably null Het
Usp25 G A 16: 77,077,117 R527Q probably damaging 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
IGL01829:E2f7 APN 10 110779094 missense probably benign 0.00
IGL01843:E2f7 APN 10 110774735 missense probably benign 0.01
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
R7253:E2f7 UTSW 10 110766303 splice site probably null
R7320:E2f7 UTSW 10 110764130 missense not run
R7348:E2f7 UTSW 10 110780975 missense probably damaging 0.98
R8219:E2f7 UTSW 10 110759843 missense probably damaging 1.00
Posted On2013-12-09