Incidental Mutation 'R6796:E2f3'
ID 533022
Institutional Source Beutler Lab
Gene Symbol E2f3
Ensembl Gene ENSMUSG00000016477
Gene Name E2F transcription factor 3
Synonyms E2F3b, E2f3a
MMRRC Submission 044909-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6796 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 30090558-30170046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30102568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 231 (V231A)
Ref Sequence ENSEMBL: ENSMUSP00000100012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102948] [ENSMUST00000221536] [ENSMUST00000222730]
AlphaFold O35261
Predicted Effect possibly damaging
Transcript: ENSMUST00000102948
AA Change: V231A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100012
Gene: ENSMUSG00000016477
AA Change: V231A

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
low complexity region 37 51 N/A INTRINSIC
low complexity region 106 124 N/A INTRINSIC
low complexity region 155 168 N/A INTRINSIC
E2F_TDP 170 235 3.53e-35 SMART
Pfam:E2F_CC-MB 251 344 5.1e-38 PFAM
low complexity region 417 430 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221536
AA Change: V114A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000222730
AA Change: V108A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.7133 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lethality prior to adulthood but otherwise appear normal. Mouse embryonic fibroblast cells from mice homozygous for a null allele are defective in cell cycle progression and exhibit reduced proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,620,597 (GRCm39) V3950A probably damaging Het
App A G 16: 84,917,455 (GRCm39) I63T probably damaging Het
Bpifb4 A T 2: 153,803,467 (GRCm39) K381N probably damaging Het
Cdc45 C T 16: 18,603,607 (GRCm39) A529T probably damaging Het
Cdh18 T A 15: 23,446,159 (GRCm39) N536K probably damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
F930015N05Rik A T 11: 64,326,229 (GRCm39) probably benign Het
Fcer2a T C 8: 3,739,830 (GRCm39) H47R possibly damaging Het
Hcar2 A G 5: 124,003,330 (GRCm39) S58P probably benign Het
Hivep3 A G 4: 119,953,558 (GRCm39) T625A possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Itgax C T 7: 127,734,236 (GRCm39) A336V probably damaging Het
Lin37 A T 7: 30,256,341 (GRCm39) V140E probably damaging Het
Malrd1 T A 2: 15,874,595 (GRCm39) I1341K unknown Het
Map4k5 T C 12: 69,864,799 (GRCm39) I561V probably benign Het
Mcc A G 18: 44,857,627 (GRCm39) S163P probably benign Het
Nlrp12 T C 7: 3,290,039 (GRCm39) T158A probably damaging Het
Or5an6 A T 19: 12,372,292 (GRCm39) I222F probably damaging Het
Or5b119 A G 19: 13,457,278 (GRCm39) C95R probably damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pax8 A T 2: 24,331,098 (GRCm39) M200K probably benign Het
Plcd4 T C 1: 74,601,229 (GRCm39) S498P probably benign Het
Poglut1 T C 16: 38,349,972 (GRCm39) Y267C probably damaging Het
Pom121l2 T C 13: 22,167,694 (GRCm39) I655T probably benign Het
Proca1 G T 11: 78,085,754 (GRCm39) R19L probably benign Het
Prr30 A G 14: 101,436,380 (GRCm39) S61P probably benign Het
Ranbp17 T C 11: 33,167,398 (GRCm39) S1022G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpgrip1 A G 14: 52,387,469 (GRCm39) H1037R probably damaging Het
Rpl34 G T 3: 130,522,926 (GRCm39) T6K probably damaging Het
Scaper T C 9: 55,771,711 (GRCm39) T402A probably benign Het
Selenow A T 7: 15,653,996 (GRCm39) V52E probably damaging Het
Septin14 T A 5: 129,774,822 (GRCm39) I118L probably benign Het
Sis A T 3: 72,872,951 (GRCm39) N62K probably benign Het
Sit1 A T 4: 43,482,761 (GRCm39) C133S probably benign Het
Susd3 ACC AC 13: 49,391,041 (GRCm39) probably null Het
Svep1 A G 4: 58,064,275 (GRCm39) V3236A probably benign Het
Taf12 G A 4: 132,016,725 (GRCm39) V168I possibly damaging Het
Tas2r139 A T 6: 42,118,526 (GRCm39) R219S probably damaging Het
Tmc1 A T 19: 20,776,400 (GRCm39) V653D probably damaging Het
Utp23 T A 15: 51,741,007 (GRCm39) L30Q probably damaging Het
Other mutations in E2f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:E2f3 APN 13 30,102,687 (GRCm39) missense probably damaging 1.00
IGL00774:E2f3 APN 13 30,102,687 (GRCm39) missense probably damaging 1.00
IGL02541:E2f3 APN 13 30,100,827 (GRCm39) critical splice donor site probably null
IGL02669:E2f3 APN 13 30,100,974 (GRCm39) missense probably benign 0.00
IGL03119:E2f3 APN 13 30,169,348 (GRCm39) missense probably benign 0.21
Crumble UTSW 13 30,095,301 (GRCm39) missense probably damaging 1.00
Hillside UTSW 13 30,102,652 (GRCm39) missense probably damaging 1.00
Slippery UTSW 13 30,102,568 (GRCm39) missense possibly damaging 0.94
R0830:E2f3 UTSW 13 30,169,543 (GRCm39) missense probably benign 0.02
R0948:E2f3 UTSW 13 30,169,516 (GRCm39) missense probably damaging 0.99
R1442:E2f3 UTSW 13 30,102,652 (GRCm39) missense probably damaging 1.00
R1813:E2f3 UTSW 13 30,104,159 (GRCm39) missense probably damaging 0.97
R2496:E2f3 UTSW 13 30,095,289 (GRCm39) missense probably damaging 1.00
R4715:E2f3 UTSW 13 30,095,258 (GRCm39) missense probably damaging 1.00
R5202:E2f3 UTSW 13 30,102,619 (GRCm39) missense probably damaging 1.00
R5902:E2f3 UTSW 13 30,169,250 (GRCm39) unclassified probably benign
R7546:E2f3 UTSW 13 30,094,112 (GRCm39) missense probably damaging 0.98
R7705:E2f3 UTSW 13 30,169,306 (GRCm39) missense probably benign 0.39
R7779:E2f3 UTSW 13 30,102,598 (GRCm39) missense probably damaging 0.99
R8354:E2f3 UTSW 13 30,169,787 (GRCm39) unclassified probably benign
R8518:E2f3 UTSW 13 30,097,453 (GRCm39) missense probably damaging 0.98
R8868:E2f3 UTSW 13 30,095,301 (GRCm39) missense probably damaging 1.00
R9017:E2f3 UTSW 13 30,097,478 (GRCm39) missense probably damaging 1.00
R9041:E2f3 UTSW 13 30,093,939 (GRCm39) missense probably damaging 0.97
R9272:E2f3 UTSW 13 30,102,629 (GRCm39) missense probably damaging 1.00
R9336:E2f3 UTSW 13 30,095,239 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GACTTTCTACATACAACTTTGAGGGG -3'
(R):5'- TAGCTGCGAAGAAACCCTTC -3'

Sequencing Primer
(F):5'- TCTACATACAACTTTGAGGGGGAAAG -3'
(R):5'- AACGCGGTATGATACGTCC -3'
Posted On 2018-08-29