Incidental Mutation 'IGL02039:Erf'
ID 184637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erf
Ensembl Gene ENSMUSG00000040857
Gene Name Ets2 repressor factor
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02039
Quality Score
Status
Chromosome 7
Chromosomal Location 24941986-24950186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24943969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 454 (E454G)
Ref Sequence ENSEMBL: ENSMUSP00000041912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045847] [ENSMUST00000116343]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045847
AA Change: E454G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041912
Gene: ENSMUSG00000040857
AA Change: E454G

DomainStartEndE-ValueType
ETS 26 111 2.23e-51 SMART
low complexity region 159 180 N/A INTRINSIC
low complexity region 251 269 N/A INTRINSIC
low complexity region 288 307 N/A INTRINSIC
low complexity region 362 373 N/A INTRINSIC
low complexity region 397 425 N/A INTRINSIC
low complexity region 429 442 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116343
SMART Domains Protein: ENSMUSP00000112046
Gene: ENSMUSG00000040857

DomainStartEndE-ValueType
ETS 26 111 2.23e-51 SMART
low complexity region 131 143 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality around E10.5, reduced size, brain hypoplasia, defects in extraembryonic tissue formation affecting the chorion, allantois, placental labyrinth and umbilical cord, and increase in apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,193 (GRCm39) Y2313* probably null Het
Arhgef12 A G 9: 42,883,563 (GRCm39) I1323T probably benign Het
C87436 A G 6: 86,430,677 (GRCm39) M366V probably benign Het
Cep290 T C 10: 100,350,464 (GRCm39) probably null Het
Cpsf3 T C 12: 21,351,457 (GRCm39) M326T probably damaging Het
Cpxm2 A G 7: 131,649,482 (GRCm39) V64A probably damaging Het
Csnka2ip G A 16: 64,298,957 (GRCm39) S25F probably damaging Het
Cyfip1 T C 7: 55,524,769 (GRCm39) F168L possibly damaging Het
Dhx8 T C 11: 101,654,853 (GRCm39) probably null Het
Dnah2 T A 11: 69,390,038 (GRCm39) I736F probably damaging Het
Flnc T C 6: 29,450,718 (GRCm39) V1482A probably benign Het
Fmn1 T C 2: 113,195,425 (GRCm39) L375P unknown Het
Foxm1 T C 6: 128,346,323 (GRCm39) Y85H probably damaging Het
Frem3 A G 8: 81,339,600 (GRCm39) E631G probably damaging Het
Fsip1 T C 2: 118,070,895 (GRCm39) D265G probably damaging Het
Gprc5c C T 11: 114,755,312 (GRCm39) Q330* probably null Het
Grin1 C T 2: 25,195,354 (GRCm39) V246M probably damaging Het
Ifitm3 C A 7: 140,590,563 (GRCm39) probably benign Het
Igdcc3 G A 9: 65,091,162 (GRCm39) V648I probably benign Het
Ighv5-2 A G 12: 113,542,214 (GRCm39) I87T probably benign Het
Imp4 G A 1: 34,482,849 (GRCm39) probably null Het
Ino80 T C 2: 119,210,554 (GRCm39) N1327D probably damaging Het
Kif5a T C 10: 127,069,736 (GRCm39) I830V possibly damaging Het
Muc5b A G 7: 141,424,901 (GRCm39) Y4696C possibly damaging Het
Nrl T C 14: 55,759,567 (GRCm39) E120G probably benign Het
Nsmaf T A 4: 6,424,995 (GRCm39) probably benign Het
Nup35 T C 2: 80,473,119 (GRCm39) M64T probably benign Het
Nxpe2 T A 9: 48,230,959 (GRCm39) N470I probably benign Het
Oga A T 19: 45,762,142 (GRCm39) V237E probably damaging Het
Or12d17 T A 17: 37,777,340 (GRCm39) I81N possibly damaging Het
Or9i1 C T 19: 13,840,083 (GRCm39) Q309* probably null Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pitpnm1 A G 19: 4,155,032 (GRCm39) T287A probably benign Het
Pkd2l2 G T 18: 34,568,421 (GRCm39) probably null Het
Pola2 A T 19: 5,998,497 (GRCm39) I355N probably damaging Het
Pp2d1 T A 17: 53,823,022 (GRCm39) R15* probably null Het
Prpf40a T C 2: 53,034,815 (GRCm39) D749G probably damaging Het
Rhoh T C 5: 66,049,981 (GRCm39) S84P probably damaging Het
Slc12a7 T C 13: 73,957,213 (GRCm39) probably null Het
Slc37a2 A G 9: 37,144,980 (GRCm39) I454T probably damaging Het
Smarca2 A G 19: 26,693,537 (GRCm39) D28G probably damaging Het
Socs4 T C 14: 47,527,650 (GRCm39) I195T probably benign Het
Svep1 A G 4: 58,123,980 (GRCm39) probably null Het
Thbd T C 2: 148,248,462 (GRCm39) T469A probably benign Het
Thoc5 T C 11: 4,872,027 (GRCm39) probably null Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Vmn1r59 T C 7: 5,457,380 (GRCm39) S127G probably benign Het
Vmn2r6 T C 3: 64,463,610 (GRCm39) E408G probably damaging Het
Yars1 A T 4: 129,109,052 (GRCm39) I428F probably damaging Het
Zglp1 T C 9: 20,978,335 (GRCm39) E14G possibly damaging Het
Other mutations in Erf
AlleleSourceChrCoordTypePredicted EffectPPH Score
eldorado UTSW 7 24,945,534 (GRCm39) missense probably damaging 1.00
Llama UTSW 7 24,945,690 (GRCm39) missense probably damaging 1.00
R0032:Erf UTSW 7 24,944,500 (GRCm39) missense possibly damaging 0.96
R0032:Erf UTSW 7 24,944,500 (GRCm39) missense possibly damaging 0.96
R0506:Erf UTSW 7 24,943,801 (GRCm39) missense probably damaging 1.00
R1674:Erf UTSW 7 24,944,731 (GRCm39) missense possibly damaging 0.96
R4856:Erf UTSW 7 24,945,636 (GRCm39) missense probably damaging 0.99
R5180:Erf UTSW 7 24,945,690 (GRCm39) missense probably damaging 1.00
R5776:Erf UTSW 7 24,945,534 (GRCm39) missense probably damaging 1.00
R6008:Erf UTSW 7 24,945,041 (GRCm39) missense probably benign 0.04
R6912:Erf UTSW 7 24,944,003 (GRCm39) missense possibly damaging 0.53
R7446:Erf UTSW 7 24,945,556 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07