Incidental Mutation 'IGL01320:E2f7'
ID74013
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: 0.189) question?
Stock #IGL01320
Quality Score
Status
Chromosome10
Chromosomal Location110745439-110787384 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 110754093 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 36 (V36I)
Ref Sequence ENSEMBL: ENSMUSP00000133494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471] [ENSMUST00000173634] [ENSMUST00000174857]
Predicted Effect probably benign
Transcript: ENSMUST00000073781
AA Change: V36I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: V36I

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: V36I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: V36I

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: V36I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174810
Predicted Effect probably benign
Transcript: ENSMUST00000174857
AA Change: V36I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly damaging Het
Other mutations in E2f7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 intron probably null
R7320:E2f7 UTSW 10 110764130 missense not run
R7348:E2f7 UTSW 10 110780975 missense probably damaging 0.98
Posted On2013-10-07