Incidental Mutation 'IGL03229:E2f7'
ID 413824
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 # IGL03229
Quality Score
Status
Chromosome 10
Chromosomal Location 110581300-110623245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110590207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 120 (V120A)
Ref Sequence ENSEMBL: ENSMUSP00000133494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471] [ENSMUST00000173634] [ENSMUST00000174857]
AlphaFold Q6S7F2
Predicted Effect probably benign
Transcript: ENSMUST00000073781
AA Change: V120A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: V120A

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: V120A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: V120A

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: ENSMUST00000173634
AA Change: V120A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect unknown
Transcript: ENSMUST00000173948
AA Change: V5A
SMART Domains Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185
AA Change: V5A

DomainStartEndE-ValueType
E2F_TDP 29 98 1.12e-28 SMART
E2F_TDP 169 219 3.34e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174810
Predicted Effect probably benign
Transcript: ENSMUST00000174857
AA Change: V120A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,990,936 (GRCm39) I832T probably damaging Het
Adcyap1r1 T C 6: 55,455,108 (GRCm39) S124P probably damaging Het
Ccn3 A G 15: 54,612,704 (GRCm39) T238A probably benign Het
Coq4 A G 2: 29,678,497 (GRCm39) D41G probably benign Het
Cpb1 A T 3: 20,304,001 (GRCm39) Y354* probably null Het
Dip2b T C 15: 100,105,719 (GRCm39) probably benign Het
Dmxl2 C T 9: 54,311,456 (GRCm39) R1755H probably damaging Het
Dyrk4 G T 6: 126,863,605 (GRCm39) probably benign Het
Fsip2 A T 2: 82,808,420 (GRCm39) I1580F possibly damaging Het
Gm9755 C A 8: 67,967,324 (GRCm39) noncoding transcript Het
Gprc6a T G 10: 51,492,699 (GRCm39) N480T probably damaging Het
H2ac20 C T 3: 96,127,953 (GRCm39) A70T probably damaging Het
H2-T9 C T 17: 36,438,614 (GRCm39) G259E probably damaging Het
Hdlbp T C 1: 93,357,909 (GRCm39) I331V probably benign Het
Heatr6 G T 11: 83,672,271 (GRCm39) G1093V probably benign Het
Kri1 T C 9: 21,193,366 (GRCm39) E162G probably damaging Het
Nckipsd T C 9: 108,688,813 (GRCm39) V116A probably benign Het
Nek10 A G 14: 14,986,686 (GRCm38) H997R probably benign Het
Nxph1 A G 6: 9,247,830 (GRCm39) Y267C probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or8k40 A T 2: 86,584,360 (GRCm39) C241S probably damaging Het
Ppip5k2 A T 1: 97,656,686 (GRCm39) V829E probably damaging Het
Prkcz A C 4: 155,346,963 (GRCm39) S573A probably benign Het
Prl2c1 T A 13: 28,040,612 (GRCm39) probably benign Het
Rgs22 T A 15: 36,015,925 (GRCm39) probably benign Het
Scn1a T A 2: 66,130,057 (GRCm39) I1253F probably damaging Het
Tarm1 A G 7: 3,545,413 (GRCm39) C146R probably damaging Het
Tor2a A T 2: 32,649,704 (GRCm39) I189F probably damaging Het
Trappc9 A T 15: 72,930,305 (GRCm39) L17Q probably damaging Het
Trim45 T A 3: 100,830,385 (GRCm39) L53Q probably damaging Het
Ubr7 T C 12: 102,735,414 (GRCm39) L291P probably damaging Het
Unc79 T C 12: 103,100,798 (GRCm39) V1878A probably damaging Het
Wdr90 T C 17: 26,064,437 (GRCm39) probably benign Het
Xpnpep1 T C 19: 53,013,811 (GRCm39) H42R probably benign Het
Zfp750 G A 11: 121,403,778 (GRCm39) H366Y possibly damaging Het
Zmynd11 A G 13: 9,739,601 (GRCm39) C462R 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
IGL01614:E2f7 APN 10 110,595,839 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02