Incidental Mutation 'IGL01614:E2f7'
ID 92322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f7
Ensembl Gene ENSMUSG00000020185
Gene Name E2F transcription factor 7
Synonyms D10Ertd739e, A630014C11Rik, E2F7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # IGL01614
Quality Score
Status
Chromosome 10
Chromosomal Location 110581300-110623245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110595839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471] [ENSMUST00000174857]
AlphaFold Q6S7F2
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: 43,735,362 (GRCm39) S143T possibly damaging Het
Arhgap32 G T 9: 32,171,801 (GRCm39) S1527I probably damaging Het
Atp8a2 A G 14: 60,282,437 (GRCm39) V128A probably damaging Het
Bpi T C 2: 158,113,866 (GRCm39) F255L probably damaging Het
Clptm1 A T 7: 19,371,625 (GRCm39) D269E probably benign Het
Cyria T C 12: 12,411,574 (GRCm39) probably null Het
Eif4e1b T A 13: 54,934,729 (GRCm39) I184N probably damaging Het
Gal3st1 T A 11: 3,948,996 (GRCm39) L401Q probably damaging Het
Gm7808 G A 9: 19,839,442 (GRCm39) probably benign Het
Hdac5 G A 11: 102,090,854 (GRCm39) T741I probably benign Het
Ipo5 A G 14: 121,172,507 (GRCm39) T522A probably benign Het
Lama5 A C 2: 179,822,657 (GRCm39) F2832V probably damaging Het
Ltk A C 2: 119,583,968 (GRCm39) L230R probably damaging Het
Mettl14 A T 3: 123,167,609 (GRCm39) probably benign Het
Myom1 T C 17: 71,433,173 (GRCm39) F1507L possibly damaging Het
Nsd3 T A 8: 26,156,095 (GRCm39) I554K possibly damaging Het
Or1j12 T G 2: 36,342,636 (GRCm39) I13S probably benign Het
Or1o1 G A 17: 37,716,529 (GRCm39) C30Y probably benign Het
Or51a43 C T 7: 103,717,576 (GRCm39) V221I probably benign Het
Or8u9 A T 2: 86,001,741 (GRCm39) I140N possibly damaging Het
Prr14 T A 7: 127,074,305 (GRCm39) L279H probably damaging Het
Rbm25 G T 12: 83,706,341 (GRCm39) D229Y probably damaging Het
Sdk2 T C 11: 113,684,684 (GRCm39) K1926E probably damaging Het
Slc25a23 C T 17: 57,352,579 (GRCm39) R435Q probably null Het
Srebf2 A G 15: 82,063,054 (GRCm39) N457S probably benign Het
Stac2 T C 11: 97,943,774 (GRCm39) D12G probably benign Het
Tal1 A C 4: 114,920,325 (GRCm39) probably null Het
Usp25 G A 16: 76,874,005 (GRCm39) R527Q probably damaging Het
Other mutations in E2f7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:E2f7 APN 10 110,589,954 (GRCm39) missense probably benign 0.09
IGL01592:E2f7 APN 10 110,582,267 (GRCm39) missense possibly damaging 0.86
IGL01829:E2f7 APN 10 110,614,955 (GRCm39) missense probably benign 0.00
IGL01843:E2f7 APN 10 110,610,596 (GRCm39) missense probably benign 0.01
IGL02683:E2f7 APN 10 110,618,320 (GRCm39) missense probably benign 0.28
IGL03229:E2f7 APN 10 110,590,207 (GRCm39) missense probably benign 0.04
R0245:E2f7 UTSW 10 110,610,656 (GRCm39) nonsense probably null
R2108:E2f7 UTSW 10 110,616,763 (GRCm39) missense probably benign 0.20
R2259:E2f7 UTSW 10 110,582,204 (GRCm39) missense probably damaging 0.99
R3408:E2f7 UTSW 10 110,620,578 (GRCm39) missense possibly damaging 0.57
R4356:E2f7 UTSW 10 110,595,712 (GRCm39) missense probably damaging 0.98
R4542:E2f7 UTSW 10 110,602,984 (GRCm39) missense probably damaging 1.00
R4763:E2f7 UTSW 10 110,616,710 (GRCm39) missense probably damaging 0.97
R5236:E2f7 UTSW 10 110,603,070 (GRCm39) missense probably damaging 1.00
R5520:E2f7 UTSW 10 110,595,806 (GRCm39) missense probably damaging 1.00
R6481:E2f7 UTSW 10 110,610,542 (GRCm39) missense probably damaging 1.00
R7253:E2f7 UTSW 10 110,602,164 (GRCm39) splice site probably null
R7320:E2f7 UTSW 10 110,599,991 (GRCm39) missense not run
R7348:E2f7 UTSW 10 110,616,836 (GRCm39) missense probably damaging 0.98
R8219:E2f7 UTSW 10 110,595,704 (GRCm39) missense probably damaging 1.00
R8530:E2f7 UTSW 10 110,614,859 (GRCm39) missense probably benign 0.31
R8887:E2f7 UTSW 10 110,610,674 (GRCm39) missense probably benign 0.02
R8958:E2f7 UTSW 10 110,601,615 (GRCm39) missense probably damaging 0.98
R9092:E2f7 UTSW 10 110,616,874 (GRCm39) missense probably benign 0.01
R9166:E2f7 UTSW 10 110,618,085 (GRCm39) missense probably benign 0.04
R9192:E2f7 UTSW 10 110,599,851 (GRCm39) missense probably damaging 1.00
R9454:E2f7 UTSW 10 110,620,542 (GRCm39) missense probably benign 0.00
R9474:E2f7 UTSW 10 110,614,918 (GRCm39) missense probably damaging 0.99
R9474:E2f7 UTSW 10 110,603,050 (GRCm39) missense probably damaging 1.00
R9538:E2f7 UTSW 10 110,616,628 (GRCm39) missense possibly damaging 0.80
Posted On 2013-12-09