Incidental Mutation 'IGL02039:Erf'
ID184637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erf
Ensembl Gene ENSMUSG00000040857
Gene NameEts2 repressor factor
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02039
Quality Score
Status
Chromosome7
Chromosomal Location25242561-25250761 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25244544 bp
ZygosityHeterozygous
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]
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: 9,297,193 Y2313* probably null Het
Arhgef12 A G 9: 42,972,267 I1323T probably benign Het
C87436 A G 6: 86,453,695 M366V probably benign Het
Cep290 T C 10: 100,514,602 probably null Het
Cpsf3 T C 12: 21,301,456 M326T probably damaging Het
Cpxm2 A G 7: 132,047,753 V64A probably damaging Het
Csnka2ip G A 16: 64,478,594 S25F probably damaging Het
Cyfip1 T C 7: 55,875,021 F168L possibly damaging Het
Dhx8 T C 11: 101,764,027 probably null Het
Dnah2 T A 11: 69,499,212 I736F probably damaging Het
Flnc T C 6: 29,450,719 V1482A probably benign Het
Fmn1 T C 2: 113,365,080 L375P unknown Het
Foxm1 T C 6: 128,369,360 Y85H probably damaging Het
Frem3 A G 8: 80,612,971 E631G probably damaging Het
Fsip1 T C 2: 118,240,414 D265G probably damaging Het
Gprc5c C T 11: 114,864,486 Q330* probably null Het
Grin1 C T 2: 25,305,342 V246M probably damaging Het
Ifitm3 C A 7: 141,010,650 probably benign Het
Igdcc3 G A 9: 65,183,880 V648I probably benign Het
Ighv5-2 A G 12: 113,578,594 I87T probably benign Het
Imp4 G A 1: 34,443,768 probably null Het
Ino80 T C 2: 119,380,073 N1327D probably damaging Het
Kif5a T C 10: 127,233,867 I830V possibly damaging Het
Mgea5 A T 19: 45,773,703 V237E probably damaging Het
Muc5b A G 7: 141,871,164 Y4696C possibly damaging Het
Nrl T C 14: 55,522,110 E120G probably benign Het
Nsmaf T A 4: 6,424,995 probably benign Het
Nup35 T C 2: 80,642,775 M64T probably benign Het
Nxpe2 T A 9: 48,319,659 N470I probably benign Het
Olfr109 T A 17: 37,466,449 I81N possibly damaging Het
Olfr1502 C T 19: 13,862,719 Q309* probably null Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pitpnm1 A G 19: 4,105,032 T287A probably benign Het
Pkd2l2 G T 18: 34,435,368 probably null Het
Pola2 A T 19: 5,948,469 I355N probably damaging Het
Pp2d1 T A 17: 53,515,994 R15* probably null Het
Prpf40a T C 2: 53,144,803 D749G probably damaging Het
Rhoh T C 5: 65,892,638 S84P probably damaging Het
Slc12a7 T C 13: 73,809,094 probably null Het
Slc37a2 A G 9: 37,233,684 I454T probably damaging Het
Smarca2 A G 19: 26,716,137 D28G probably damaging Het
Socs4 T C 14: 47,290,193 I195T probably benign Het
Svep1 A G 4: 58,123,980 probably null Het
Thbd T C 2: 148,406,542 T469A probably benign Het
Thoc5 T C 11: 4,922,027 probably null Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn1r59 T C 7: 5,454,381 S127G probably benign Het
Vmn2r6 T C 3: 64,556,189 E408G probably damaging Het
Yars A T 4: 129,215,259 I428F probably damaging Het
Zglp1 T C 9: 21,067,039 E14G possibly damaging Het
Other mutations in Erf
AlleleSourceChrCoordTypePredicted EffectPPH Score
eldorado UTSW 7 25246109 missense probably damaging 1.00
Llama UTSW 7 25246265 missense probably damaging 1.00
R0032:Erf UTSW 7 25245075 missense possibly damaging 0.96
R0032:Erf UTSW 7 25245075 missense possibly damaging 0.96
R0506:Erf UTSW 7 25244376 missense probably damaging 1.00
R1674:Erf UTSW 7 25245306 missense possibly damaging 0.96
R4856:Erf UTSW 7 25246211 missense probably damaging 0.99
R5180:Erf UTSW 7 25246265 missense probably damaging 1.00
R5776:Erf UTSW 7 25246109 missense probably damaging 1.00
R6008:Erf UTSW 7 25245616 missense probably benign 0.04
R6912:Erf UTSW 7 25244578 missense possibly damaging 0.53
R7446:Erf UTSW 7 25246131 missense probably damaging 0.99
Posted On2014-05-07