Incidental Mutation 'R4384:E2f8'
ID 326112
Institutional Source Beutler Lab
Gene Symbol E2f8
Ensembl Gene ENSMUSG00000046179
Gene Name E2F transcription factor 8
Synonyms 4432406C08Rik
MMRRC Submission 042002-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4384 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 48516177-48531344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48516847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 844 (T844I)
Ref Sequence ENSEMBL: ENSMUSP00000112883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058745] [ENSMUST00000119223]
AlphaFold Q58FA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000058745
AA Change: T844I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179
AA Change: T844I

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 possibly damaging
Transcript: ENSMUST00000119223
AA Change: T844I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179
AA Change: T844I

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
Meta Mutation Damage Score 0.1121 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (56/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 T A 4: 86,792,805 (GRCm39) V27E possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Brip1 A T 11: 86,039,255 (GRCm39) D426E possibly damaging Het
Cadps2 T A 6: 23,412,987 (GRCm39) Q654L probably benign Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cntnap3 A G 13: 64,896,274 (GRCm39) Y1067H probably damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Ddias G A 7: 92,507,431 (GRCm39) T828I probably damaging Het
Dennd4c A G 4: 86,729,687 (GRCm39) Y763C probably damaging Het
Dscam T A 16: 96,510,416 (GRCm39) I948F probably damaging Het
E030018B13Rik A G 7: 63,569,141 (GRCm39) probably benign Het
Eps8 T A 6: 137,476,590 (GRCm39) H603L probably benign Het
Esrrg G A 1: 187,775,908 (GRCm39) C122Y probably damaging Het
Frmd4a C T 2: 4,599,374 (GRCm39) R467* probably null Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Gpat4 A G 8: 23,664,602 (GRCm39) I446T probably benign Het
Klhl12 T G 1: 134,415,392 (GRCm39) D435E probably damaging Het
Luc7l T C 17: 26,498,936 (GRCm39) probably benign Het
Marchf2 C A 17: 33,915,167 (GRCm39) M142I probably benign Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Mdm2 T C 10: 117,532,344 (GRCm39) D114G possibly damaging Het
Med1 G A 11: 98,043,688 (GRCm39) probably benign Het
Meikin C T 11: 54,308,613 (GRCm39) Q404* probably null Het
Myh9 A T 15: 77,675,912 (GRCm39) probably benign Het
Mylip T C 13: 45,543,434 (GRCm39) M1T probably null Het
Ncapg2 T C 12: 116,403,497 (GRCm39) probably null Het
Nmd3 T C 3: 69,631,731 (GRCm39) probably benign Het
Nwd2 T A 5: 63,963,914 (GRCm39) L1166H probably damaging Het
Or1j13 A G 2: 36,370,010 (GRCm39) L44P probably damaging Het
Or8b48 T C 9: 38,493,349 (GRCm39) Y259H probably damaging Het
Rubcn A G 16: 32,677,272 (GRCm39) I71T probably damaging Het
Rwdd3 T C 3: 120,952,406 (GRCm39) probably benign Het
Ryr2 T C 13: 11,620,119 (GRCm39) E3826G probably damaging Het
Sdad1 T C 5: 92,446,116 (GRCm39) Q273R probably benign Het
Sdha A T 13: 74,475,104 (GRCm39) I579K possibly damaging Het
Sema4d A G 13: 51,856,919 (GRCm39) L771P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc6a11 A G 6: 114,224,688 (GRCm39) E624G possibly damaging Het
Tada3 G T 6: 113,347,340 (GRCm39) R117S probably damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Trpc1 C A 9: 95,614,161 (GRCm39) M34I probably benign Het
Trpc4ap A G 2: 155,482,427 (GRCm39) V521A possibly damaging Het
Trpm2 A G 10: 77,753,559 (GRCm39) V1315A probably benign Het
Tvp23a A G 16: 10,246,546 (GRCm39) S80P probably benign Het
Usp54 A T 14: 20,600,153 (GRCm39) probably null Het
Vmn2r27 A G 6: 124,201,115 (GRCm39) Y281H probably benign Het
Vwf T A 6: 125,632,079 (GRCm39) I37N unknown Het
Zfp329 G A 7: 12,545,584 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,005 (GRCm39) L91F possibly damaging 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
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
R6003:E2f8 UTSW 7 48,520,525 (GRCm39) missense probably benign
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'- ATGCGCATGTGTGTATATCTGC -3'
(R):5'- TAGTCTCCCAGCAATCCAGATATC -3'

Sequencing Primer
(F):5'- CTGCTGTGATATTGAGTAAAAACCCC -3'
(R):5'- CCAGCAATCCAGATATCATTTAGCTG -3'
Posted On 2015-07-06