Incidental Mutation 'R5776:Erf'
ID446700
Institutional Source Beutler Lab
Gene Symbol Erf
Ensembl Gene ENSMUSG00000040857
Gene NameEts2 repressor factor
Synonyms
MMRRC Submission 043375-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5776 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location25242561-25250761 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25246109 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 79 (D79G)
Ref Sequence ENSEMBL: ENSMUSP00000112046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045847] [ENSMUST00000116343]
Predicted Effect probably damaging
Transcript: ENSMUST00000045847
AA Change: D79G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041912
Gene: ENSMUSG00000040857
AA Change: D79G

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 damaging
Transcript: ENSMUST00000116343
AA Change: D79G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112046
Gene: ENSMUSG00000040857
AA Change: D79G

DomainStartEndE-ValueType
ETS 26 111 2.23e-51 SMART
low complexity region 131 143 N/A INTRINSIC
Meta Mutation Damage Score 0.244 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (64/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,107,650 M378K possibly damaging Het
Abca17 A G 17: 24,295,158 V857A probably benign Het
Abca9 C T 11: 110,107,460 probably null Het
Adam22 T C 5: 8,127,361 K583E probably benign Het
Akr1c13 T C 13: 4,194,187 F80L probably damaging Het
Apob A T 12: 8,006,149 I1511F possibly damaging Het
Cfh C A 1: 140,144,023 R291I possibly damaging Het
Col1a1 C T 11: 94,949,724 S1114F unknown Het
Ctsj T C 13: 61,003,142 D168G probably damaging Het
Extl1 T C 4: 134,357,772 N629S possibly damaging Het
Fbxo9 T C 9: 78,095,187 E204G probably damaging Het
Fdx1l C A 9: 21,073,482 V9L possibly damaging Het
Gfer G T 17: 24,696,053 S5R probably benign Het
Gm15931 A T 7: 4,281,565 noncoding transcript Het
Gm6309 T A 5: 146,168,881 I158F possibly damaging Het
Gm7247 C T 14: 51,364,348 S26F probably benign Het
Gm8251 T C 1: 44,056,505 E1811G possibly damaging Het
Hacl1 A T 14: 31,622,871 N234K possibly damaging Het
Hcn3 C T 3: 89,148,105 A612T probably benign Het
Hectd1 T A 12: 51,764,114 E1679D possibly damaging Het
Hipk4 T C 7: 27,528,980 L285P probably damaging Het
Igsf3 G A 3: 101,425,480 V25I probably benign Het
Jade1 A G 3: 41,613,792 H765R probably benign Het
Kcnv1 T C 15: 45,114,567 D25G unknown Het
Klhl3 A G 13: 58,005,184 S586P probably benign Het
L3mbtl2 A G 15: 81,684,871 D582G probably damaging Het
Matn2 G A 15: 34,431,619 C835Y probably damaging Het
Mgea5 T C 19: 45,771,924 E265G probably damaging Het
Naa15 A C 3: 51,460,026 D490A probably damaging Het
Nab2 T A 10: 127,664,329 Y298F probably damaging Het
Nipsnap1 T A 11: 4,888,919 M115K probably benign Het
Nlrp5-ps T C 7: 14,592,724 noncoding transcript Het
Nol4l T G 2: 153,417,821 Q211P probably damaging Het
Olfr427 A T 1: 174,099,773 H105L probably damaging Het
Olfr625-ps1 T A 7: 103,683,039 M97K probably damaging Het
Pkhd1 T C 1: 20,209,185 K2970E possibly damaging Het
Plin4 T C 17: 56,104,983 T683A probably damaging Het
Ppm1g T C 5: 31,205,110 D282G probably benign Het
Ppp6r3 A G 19: 3,526,901 S10P possibly damaging Het
Raph1 G A 1: 60,490,156 probably benign Het
Rc3h2 A G 2: 37,378,313 V935A possibly damaging Het
Reg4 T A 3: 98,233,028 D108E possibly damaging Het
Saraf T A 8: 34,165,450 Y228N probably damaging Het
Sctr T C 1: 120,056,407 S357P probably damaging Het
Sec22b A T 3: 97,914,568 N139Y probably damaging Het
Sgsm1 T A 5: 113,250,957 I1037F probably damaging Het
Skint5 A C 4: 113,763,503 S671R unknown Het
Slc38a3 C A 9: 107,658,749 E62* probably null Het
Slfn14 C T 11: 83,283,599 E189K probably damaging Het
Sox21 A G 14: 118,235,244 L131P probably damaging Het
Stip1 A G 19: 7,022,025 probably null Het
Stx16 G A 2: 174,093,499 G156R probably damaging Het
Susd1 T C 4: 59,315,363 probably benign Het
Tdrd7 T A 4: 46,005,689 D498E probably benign Het
Tln2 C T 9: 67,258,250 E1053K probably damaging Het
Trav6-4 A G 14: 53,454,754 D103G probably damaging Het
Txndc15 A G 13: 55,718,107 E128G probably benign Het
Vmn2r22 A T 6: 123,637,714 W306R probably damaging Het
Yjefn3 A T 8: 69,889,471 L33Q probably damaging Het
Zfp641 T C 15: 98,289,010 D244G probably damaging Het
Other mutations in Erf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Erf APN 7 25244544 missense possibly damaging 0.72
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
R6008:Erf UTSW 7 25245616 missense probably benign 0.04
R6912:Erf UTSW 7 25244578 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- CTATGAGTTCACAAGACTGGCAGG -3'
(R):5'- GGGTTTGCCTTCCCAGATTG -3'

Sequencing Primer
(F):5'- TTCACAAGACTGGCAGGACTTG -3'
(R):5'- ATTGGGCCTACAAACCGGAGTC -3'
Posted On2016-12-15