Incidental Mutation 'IGL01987:E2f5'
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ID181977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f5
Ensembl Gene ENSMUSG00000027552
Gene NameE2F transcription factor 5
SynonymsE2F-5
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.717) question?
Stock #IGL01987
Quality Score
Status
Chromosome3
Chromosomal Location14578641-14606309 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 14587303 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029069] [ENSMUST00000165922]
Predicted Effect probably benign
Transcript: ENSMUST00000029069
SMART Domains Protein: ENSMUSP00000029069
Gene: ENSMUSG00000027552

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
Pfam:E2F_TDP 40 106 3.3e-28 PFAM
coiled coil region 111 146 N/A INTRINSIC
low complexity region 223 256 N/A INTRINSIC
low complexity region 283 293 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165922
SMART Domains Protein: ENSMUSP00000127877
Gene: ENSMUSG00000027552

DomainStartEndE-ValueType
low complexity region 6 33 N/A INTRINSIC
E2F_TDP 40 106 8.76e-31 SMART
Pfam:E2F_CC-MB 123 221 6.9e-35 PFAM
low complexity region 224 257 N/A INTRINSIC
low complexity region 284 294 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop non-obstructive hydrocephalus, ruffled coats, ataxic gait, and dehydration after weaning and die prematurely at an average age of 6 weeks. They exhibit dilated ventricles and cerebral cortex atrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in E2f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02388:E2f5 APN 3 14588280 missense probably benign 0.00
IGL02415:E2f5 APN 3 14603897 missense probably benign 0.00
R0401:E2f5 UTSW 3 14579025 critical splice donor site probably null
R1977:E2f5 UTSW 3 14587356 missense probably damaging 1.00
R2434:E2f5 UTSW 3 14579014 missense probably damaging 1.00
R3029:E2f5 UTSW 3 14603665 missense probably benign 0.37
R4405:E2f5 UTSW 3 14603763 missense probably benign 0.09
R4407:E2f5 UTSW 3 14603763 missense probably benign 0.09
R4780:E2f5 UTSW 3 14587319 missense probably benign 0.01
R6627:E2f5 UTSW 3 14603857 missense probably benign 0.06
Posted On2014-05-07