Incidental Mutation 'IGL01121:E2f8'
ID51597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E2f8
Ensembl Gene ENSMUSG00000046179
Gene NameE2F transcription factor 8
Synonyms4432406C08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01121
Quality Score
Status
Chromosome7
Chromosomal Location48866429-48881596 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 48867821 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 745 (Q745*)
Ref Sequence ENSEMBL: ENSMUSP00000112883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058745] [ENSMUST00000119223]
Predicted Effect probably null
Transcript: ENSMUST00000058745
AA Change: Q745*
SMART Domains Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179
AA Change: Q745*

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 null
Transcript: ENSMUST00000119223
AA Change: Q745*
SMART Domains Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179
AA Change: Q745*

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,755,148 noncoding transcript Het
4930432E11Rik A T 7: 29,574,001 noncoding transcript Het
Alg3 T C 16: 20,610,647 E31G probably damaging Het
Arhgap29 A G 3: 122,009,863 E764G probably damaging Het
Atp5j2 C A 5: 145,184,568 V68L probably benign Het
Birc6 T A 17: 74,631,038 I2645K probably benign Het
Capn11 A G 17: 45,639,132 S369P probably benign Het
Car4 A T 11: 84,964,346 probably null Het
Ccdc185 C T 1: 182,748,657 V156I probably benign Het
Cpsf2 G T 12: 101,988,706 E245D probably damaging Het
Dnah11 T C 12: 118,050,695 D2019G probably benign Het
Dscc1 A G 15: 55,082,325 probably benign Het
Dzip3 T C 16: 48,944,881 D490G probably benign Het
Fat3 T A 9: 15,998,401 T2102S probably benign Het
Fgf7 C T 2: 126,088,232 probably benign Het
Fstl4 T C 11: 52,814,637 F47L probably benign Het
Gm15097 A T X: 149,804,328 R129S possibly damaging Het
Gm4297 C T X: 24,552,615 D200N probably benign Het
Itgb5 G T 16: 33,919,989 D490Y probably benign Het
Kansl1 A G 11: 104,335,596 S912P probably benign Het
Kcnq3 A T 15: 66,005,977 probably benign Het
Kctd6 A G 14: 8,222,656 H166R possibly damaging Het
Kel T C 6: 41,702,409 D140G probably benign Het
Lrif1 C A 3: 106,735,664 S177* probably null Het
Lrp1 A T 10: 127,583,853 C962* probably null Het
Lypd5 A T 7: 24,351,551 Y29F probably benign Het
Mmrn1 A G 6: 60,975,944 D403G possibly damaging Het
Nhsl1 T G 10: 18,511,710 V244G probably damaging Het
Olfr781 T C 10: 129,332,935 I18T probably benign Het
Ptprd A T 4: 75,954,201 probably benign Het
Rcan2 A T 17: 44,017,884 I69L probably damaging Het
Rprd2 A G 3: 95,776,550 L373P probably damaging Het
Slc10a4 T C 5: 73,007,586 C174R probably damaging Het
Tas2r134 C T 2: 51,627,989 T160I probably damaging Het
Tbc1d19 T A 5: 53,897,062 L464* probably null Het
Tmem45a2 C T 16: 57,040,790 D225N possibly damaging Het
Unc79 G A 12: 103,165,631 C2139Y probably damaging Het
Vmn2r101 G T 17: 19,589,674 G241C probably damaging Het
Vmn2r91 T C 17: 18,136,504 V811A possibly damaging Het
Wdr11 T C 7: 129,628,022 Y844H probably benign Het
Wdr70 T C 15: 7,873,174 K656E possibly damaging Het
Zfp579 C A 7: 4,993,247 C555F possibly damaging Het
Other mutations in E2f8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:E2f8 APN 7 48868203 missense probably damaging 1.00
IGL01351:E2f8 APN 7 48867151 missense probably benign 0.00
IGL01592:E2f8 APN 7 48867857 missense probably damaging 1.00
IGL01730:E2f8 APN 7 48877934 splice site probably benign
IGL02708:E2f8 APN 7 48867234 splice site probably null
R0535:E2f8 UTSW 7 48871810 splice site probably benign
R1356:E2f8 UTSW 7 48880270 splice site probably benign
R1902:E2f8 UTSW 7 48871172 missense probably benign 0.32
R1989:E2f8 UTSW 7 48873280 missense probably benign 0.30
R2109:E2f8 UTSW 7 48875107 missense probably damaging 1.00
R4126:E2f8 UTSW 7 48875607 missense probably damaging 0.99
R4384:E2f8 UTSW 7 48867099 missense possibly damaging 0.93
R4817:E2f8 UTSW 7 48867746 missense probably benign
R4939:E2f8 UTSW 7 48872138 missense probably benign 0.02
R4979:E2f8 UTSW 7 48875170 intron probably benign
R5274:E2f8 UTSW 7 48867177 missense probably damaging 0.97
R5624:E2f8 UTSW 7 48877961 missense probably damaging 1.00
R5677:E2f8 UTSW 7 48867195 missense probably damaging 0.99
R5940:E2f8 UTSW 7 48871077 missense probably benign 0.03
R5988:E2f8 UTSW 7 48874995 missense probably damaging 1.00
R6003:E2f8 UTSW 7 48870777 missense probably benign
R6107:E2f8 UTSW 7 48867676 missense probably benign 0.01
R6816:E2f8 UTSW 7 48875583 missense possibly damaging 0.46
R7329:E2f8 UTSW 7 48872110 missense probably damaging 1.00
R7343:E2f8 UTSW 7 48867965 missense probably damaging 0.97
R7444:E2f8 UTSW 7 48868179 missense probably damaging 0.98
R7474:E2f8 UTSW 7 48875760 missense probably damaging 1.00
R7793:E2f8 UTSW 7 48878075 missense probably benign 0.00
R8381:E2f8 UTSW 7 48877962 missense probably damaging 1.00
Z1177:E2f8 UTSW 7 48875546 missense probably benign 0.09
Posted On2013-06-21