Incidental Mutation 'R4405:E2f5'
ID 327593
Institutional Source Beutler Lab
Gene Symbol E2f5
Ensembl Gene ENSMUSG00000027552
Gene Name E2F transcription factor 5
Synonyms E2F-5
MMRRC Submission 041134-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.677) question?
Stock # R4405 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 14643701-14671369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14668823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 238 (D238E)
Ref Sequence ENSEMBL: ENSMUSP00000127877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029069] [ENSMUST00000108365] [ENSMUST00000165922] [ENSMUST00000185384] [ENSMUST00000185423] [ENSMUST00000186870]
AlphaFold Q61502
Predicted Effect probably benign
Transcript: ENSMUST00000029069
AA Change: D237E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029069
Gene: ENSMUSG00000027552
AA Change: D237E

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: ENSMUST00000108365
SMART Domains Protein: ENSMUSP00000104002
Gene: ENSMUSG00000078784

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165922
AA Change: D238E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127877
Gene: ENSMUSG00000027552
AA Change: D238E

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
Predicted Effect probably benign
Transcript: ENSMUST00000185384
Predicted Effect probably benign
Transcript: ENSMUST00000185423
Predicted Effect probably benign
Transcript: ENSMUST00000186870
Meta Mutation Damage Score 0.0711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 C T 8: 95,763,536 (GRCm39) A279V probably benign Het
Aggf1 G A 13: 95,508,102 (GRCm39) P88L probably benign Het
Asb18 T C 1: 89,896,411 (GRCm39) T210A probably benign Het
Cd8b1 C T 6: 71,303,006 (GRCm39) S27L possibly damaging Het
Cfap43 C T 19: 47,728,236 (GRCm39) S1507N possibly damaging Het
Col12a1 A T 9: 79,547,247 (GRCm39) probably null Het
Col19a1 G A 1: 24,573,190 (GRCm39) T194M unknown Het
Cpb1 T A 3: 20,317,733 (GRCm39) T237S probably benign Het
Cubn G A 2: 13,470,841 (GRCm39) T517M probably damaging Het
Dnah6 T C 6: 73,106,274 (GRCm39) N1769S probably benign Het
Dnm1 A G 2: 32,225,984 (GRCm39) I365T probably damaging Het
Etv6 A G 6: 134,210,497 (GRCm39) E115G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gapvd1 C T 2: 34,618,747 (GRCm39) V209I probably damaging Het
Gbp8 G A 5: 105,198,928 (GRCm39) probably benign Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Grb14 T C 2: 64,783,966 (GRCm39) N54D probably damaging Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
Herc2 T A 7: 55,820,225 (GRCm39) L2849Q probably damaging Het
Hsd17b4 G T 18: 50,261,381 (GRCm39) probably benign Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Iqcd A T 5: 120,740,485 (GRCm39) E272V probably damaging Het
Itih2 A T 2: 10,111,548 (GRCm39) Y463* probably null Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Klf3 A T 5: 64,986,347 (GRCm39) E294V possibly damaging Het
Lancl1 A T 1: 67,060,015 (GRCm39) probably null Het
Ldaf1 T G 7: 119,714,714 (GRCm39) F68V probably damaging Het
Lrig3 T C 10: 125,846,877 (GRCm39) F882L probably benign Het
Man2c1 A G 9: 57,046,367 (GRCm39) N474S probably damaging Het
Map4k3 A G 17: 80,922,444 (GRCm39) probably null Het
Mast1 C A 8: 85,647,520 (GRCm39) W572C probably damaging Het
Mbd4 T A 6: 115,826,076 (GRCm39) Q305L possibly damaging Het
Mbl2 T A 19: 30,216,916 (GRCm39) S243T probably benign Het
Mcph1 C T 8: 18,682,557 (GRCm39) P565S probably benign Het
Mfsd1 G C 3: 67,507,943 (GRCm39) V435L probably benign Het
Mycbp2 C T 14: 103,360,881 (GRCm39) G1183D probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Noa1 A T 5: 77,454,219 (GRCm39) S474T probably benign Het
Nrde2 A G 12: 100,096,843 (GRCm39) Y986H probably benign Het
Oca2 G T 7: 56,064,182 (GRCm39) V726F possibly damaging Het
Or2ag13 T A 7: 106,472,580 (GRCm39) S291C probably damaging Het
Or7a41 A T 10: 78,871,244 (GRCm39) M205L probably benign Het
Pip5k1a A G 3: 94,975,370 (GRCm39) probably null Het
Plekhn1 A T 4: 156,309,730 (GRCm39) probably null Het
Sec61a2 T C 2: 5,887,670 (GRCm39) D104G probably benign Het
Skic3 A T 13: 76,303,784 (GRCm39) Y1234F probably damaging Het
Slc25a36 T C 9: 96,967,171 (GRCm39) T131A probably benign Het
Slc5a11 A T 7: 122,857,700 (GRCm39) D263V probably damaging Het
Sorbs1 T C 19: 40,384,189 (GRCm39) I35V probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tbc1d1 T C 5: 64,331,013 (GRCm39) V64A possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r20 A G 6: 57,409,042 (GRCm39) M123V probably benign Het
Zwint T C 10: 72,492,095 (GRCm39) L59P probably damaging Het
Other mutations in E2f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:E2f5 APN 3 14,652,363 (GRCm39) splice site probably benign
IGL02388:E2f5 APN 3 14,653,340 (GRCm39) missense probably benign 0.00
IGL02415:E2f5 APN 3 14,668,957 (GRCm39) missense probably benign 0.00
R0401:E2f5 UTSW 3 14,644,085 (GRCm39) critical splice donor site probably null
R1977:E2f5 UTSW 3 14,652,416 (GRCm39) missense probably damaging 1.00
R2434:E2f5 UTSW 3 14,644,074 (GRCm39) missense probably damaging 1.00
R3029:E2f5 UTSW 3 14,668,725 (GRCm39) missense probably benign 0.37
R4407:E2f5 UTSW 3 14,668,823 (GRCm39) missense probably benign 0.09
R4780:E2f5 UTSW 3 14,652,379 (GRCm39) missense probably benign 0.01
R6627:E2f5 UTSW 3 14,668,917 (GRCm39) missense probably benign 0.06
R9557:E2f5 UTSW 3 14,653,311 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCCGTGAATTTAGGTGTTAGATCC -3'
(R):5'- TTCAGGATAGATCTCTGGGCTG -3'

Sequencing Primer
(F):5'- AGGTGTTAGATCCTAATGACTTTCC -3'
(R):5'- ATAGATCTCTGGGCTGTTTCATAGAG -3'
Posted On 2015-07-07