Incidental Mutation 'R6003:E2f8'
ID 478461
Institutional Source Beutler Lab
Gene Symbol E2f8
Ensembl Gene ENSMUSG00000046179
Gene Name E2F transcription factor 8
Synonyms 4432406C08Rik
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 48516177-48531344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48520525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 599 (M599V)
Ref Sequence ENSEMBL: ENSMUSP00000112883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058745] [ENSMUST00000119223]
AlphaFold Q58FA4
Predicted Effect probably benign
Transcript: ENSMUST00000058745
AA Change: M599V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179
AA Change: M599V

DomainStartEndE-ValueType
E2F_TDP 113 182 4.25e-29 SMART
E2F_TDP 261 347 2.26e-33 SMART
low complexity region 819 832 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119223
AA Change: M599V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179
AA Change: M599V

DomainStartEndE-ValueType
Pfam:E2F_TDP 113 182 8.9e-24 PFAM
Pfam:E2F_TDP 261 347 3e-21 PFAM
low complexity region 819 832 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151139
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
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 family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and live to old age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null Het
Other mutations in E2f8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:E2f8 APN 7 48,517,951 (GRCm39) missense probably damaging 1.00
IGL01121:E2f8 APN 7 48,517,569 (GRCm39) nonsense probably null
IGL01351:E2f8 APN 7 48,516,899 (GRCm39) missense probably benign 0.00
IGL01592:E2f8 APN 7 48,517,605 (GRCm39) missense probably damaging 1.00
IGL01730:E2f8 APN 7 48,527,682 (GRCm39) splice site probably benign
IGL02708:E2f8 APN 7 48,516,982 (GRCm39) splice site probably null
R0535:E2f8 UTSW 7 48,521,558 (GRCm39) splice site probably benign
R1356:E2f8 UTSW 7 48,530,018 (GRCm39) splice site probably benign
R1902:E2f8 UTSW 7 48,520,920 (GRCm39) missense probably benign 0.32
R1989:E2f8 UTSW 7 48,523,028 (GRCm39) missense probably benign 0.30
R2109:E2f8 UTSW 7 48,524,855 (GRCm39) missense probably damaging 1.00
R4126:E2f8 UTSW 7 48,525,355 (GRCm39) missense probably damaging 0.99
R4384:E2f8 UTSW 7 48,516,847 (GRCm39) missense possibly damaging 0.93
R4817:E2f8 UTSW 7 48,517,494 (GRCm39) missense probably benign
R4939:E2f8 UTSW 7 48,521,886 (GRCm39) missense probably benign 0.02
R4979:E2f8 UTSW 7 48,524,918 (GRCm39) intron probably benign
R5274:E2f8 UTSW 7 48,516,925 (GRCm39) missense probably damaging 0.97
R5624:E2f8 UTSW 7 48,527,709 (GRCm39) missense probably damaging 1.00
R5677:E2f8 UTSW 7 48,516,943 (GRCm39) missense probably damaging 0.99
R5940:E2f8 UTSW 7 48,520,825 (GRCm39) missense probably benign 0.03
R5988:E2f8 UTSW 7 48,524,743 (GRCm39) missense probably damaging 1.00
R6107:E2f8 UTSW 7 48,517,424 (GRCm39) missense probably benign 0.01
R6816:E2f8 UTSW 7 48,525,331 (GRCm39) missense possibly damaging 0.46
R7329:E2f8 UTSW 7 48,521,858 (GRCm39) missense probably damaging 1.00
R7343:E2f8 UTSW 7 48,517,713 (GRCm39) missense probably damaging 0.97
R7444:E2f8 UTSW 7 48,517,927 (GRCm39) missense probably damaging 0.98
R7474:E2f8 UTSW 7 48,525,508 (GRCm39) missense probably damaging 1.00
R7793:E2f8 UTSW 7 48,527,823 (GRCm39) missense probably benign 0.00
R8381:E2f8 UTSW 7 48,527,710 (GRCm39) missense probably damaging 1.00
R9553:E2f8 UTSW 7 48,528,394 (GRCm39) missense probably damaging 1.00
Z1177:E2f8 UTSW 7 48,525,294 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TTGGTAAACTTCACAAGCCACC -3'
(R):5'- TGCCCAAGCCCAAATGTTGAC -3'

Sequencing Primer
(F):5'- CACCGAATTCTTCTTGTGGAGTCAG -3'
(R):5'- ATGTTGACACCACCCCCTG -3'
Posted On 2017-06-26