Incidental Mutation 'R5695:Ehf'
ID 443857
Institutional Source Beutler Lab
Gene Symbol Ehf
Ensembl Gene ENSMUSG00000012350
Gene Name ets homologous factor
Synonyms 9030625L19Rik
MMRRC Submission 043326-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R5695 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103263433-103303278 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103266779 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 276 (E276V)
Ref Sequence ENSEMBL: ENSMUSP00000106807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090475] [ENSMUST00000111174] [ENSMUST00000111176] [ENSMUST00000125788]
AlphaFold O70273
Predicted Effect probably damaging
Transcript: ENSMUST00000090475
AA Change: E299V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: E299V

SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111174
AA Change: E299V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: E299V

SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111176
AA Change: E276V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: E276V

SAM_PNT 31 115 1.39e-35 SMART
ETS 183 270 1.84e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125788
SMART Domains Protein: ENSMUSP00000121103
Gene: ENSMUSG00000012350

SAM_PNT 42 126 1.39e-35 SMART
PDB:3JTG|A 215 242 1e-8 PDB
Blast:ETS 217 242 1e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137774
Meta Mutation Damage Score 0.0951 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,613,971 (GRCm38) H116L probably damaging Het
Anapc4 C T 5: 52,862,239 (GRCm38) S581L probably benign Het
Ano8 A C 8: 71,483,243 (GRCm38) D276E probably damaging Het
Aspm G A 1: 139,479,669 (GRCm38) R2098H probably benign Het
Bend7 G A 2: 4,763,241 (GRCm38) R336Q probably damaging Het
Bpifb4 G A 2: 153,942,923 (GRCm38) G184S probably damaging Het
Cbx8 T C 11: 119,039,311 (GRCm38) D152G probably benign Het
Cdca2 A G 14: 67,705,629 (GRCm38) probably null Het
Cgn G A 3: 94,773,635 (GRCm38) A531V probably benign Het
Cmya5 C A 13: 93,045,866 (GRCm38) probably null Het
Cntnap3 A G 13: 64,787,955 (GRCm38) S365P probably damaging Het
Crnn A G 3: 93,149,023 (GRCm38) Q372R probably damaging Het
Eif4g3 T A 4: 138,163,433 (GRCm38) probably null Het
Enpep C T 3: 129,309,099 (GRCm38) D403N probably damaging Het
Enpp1 T C 10: 24,654,908 (GRCm38) E550G probably damaging Het
Entpd8 A G 2: 25,084,334 (GRCm38) D377G probably benign Het
Epc2 T A 2: 49,547,607 (GRCm38) probably null Het
Erich3 G T 3: 154,733,573 (GRCm38) G481V probably damaging Het
Fank1 A G 7: 133,869,346 (GRCm38) Y156C probably damaging Het
Fras1 A G 5: 96,781,344 (GRCm38) D3869G probably damaging Het
Gcnt2 A G 13: 40,918,199 (GRCm38) D106G probably benign Het
Gm20830 A T Y: 6,916,501 (GRCm38) V206E probably benign Het
Gmpr2 T C 14: 55,677,234 (GRCm38) V228A possibly damaging Het
Gon4l TGAGCA TGAGCAGAGCA 3: 88,896,216 (GRCm38) probably null Het
Gtpbp1 G A 15: 79,712,174 (GRCm38) probably null Het
Hhat A T 1: 192,717,019 (GRCm38) M271K probably damaging Het
Hipk2 A T 6: 38,818,875 (GRCm38) M153K possibly damaging Het
Hydin A T 8: 110,535,283 (GRCm38) H2672L probably benign Het
Igfbpl1 A T 4: 45,826,374 (GRCm38) D140E probably damaging Het
Kctd1 T G 18: 15,063,516 (GRCm38) probably benign Het
Lax1 A T 1: 133,680,578 (GRCm38) Y142N probably damaging Het
Lpin2 C T 17: 71,244,803 (GRCm38) R733C probably damaging Het
Morn4 A G 19: 42,076,117 (GRCm38) L144P possibly damaging Het
Nup214 C A 2: 32,034,373 (GRCm38) T1638K probably damaging Het
Nyap1 C T 5: 137,734,984 (GRCm38) A596T probably damaging Het
Oas1d T C 5: 120,915,011 (GRCm38) M43T probably benign Het
Olfr724 T C 14: 49,960,623 (GRCm38) T150A probably benign Het
Olfr901 A G 9: 38,431,176 (GRCm38) H298R probably benign Het
Olfr986 T C 9: 40,187,601 (GRCm38) V162A probably benign Het
Pacs1 A G 19: 5,136,791 (GRCm38) F851S probably damaging Het
Pcdh17 A G 14: 84,446,360 (GRCm38) Q89R probably damaging Het
Phrf1 A G 7: 141,258,465 (GRCm38) probably benign Het
Plekhb1 A T 7: 100,655,395 (GRCm38) I34N probably damaging Het
Ralgapa2 T C 2: 146,333,477 (GRCm38) E1800G probably damaging Het
Rbm33 A T 5: 28,339,012 (GRCm38) I89F probably damaging Het
Rtl1 T A 12: 109,594,097 (GRCm38) E436V probably damaging Het
Slc2a4 G T 11: 69,946,391 (GRCm38) P73Q probably damaging Het
Sorbs2 A T 8: 45,792,875 (GRCm38) T311S probably benign Het
Sulf2 G A 2: 166,132,758 (GRCm38) A2V probably benign Het
Supt16 A T 14: 52,174,144 (GRCm38) probably null Het
Vmn1r26 A T 6: 58,008,753 (GRCm38) N150K probably damaging Het
Vmn2r39 T A 7: 9,025,151 (GRCm38) H407L possibly damaging Het
Vmn2r84 T A 10: 130,389,195 (GRCm38) Y482F probably benign Het
Vps9d1 T C 8: 123,246,916 (GRCm38) E376G probably benign Het
Wrn C A 8: 33,324,318 (GRCm38) G366V probably benign Het
Other mutations in Ehf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Ehf APN 2 103,266,840 (GRCm38) splice site probably null
IGL01296:Ehf APN 2 103,268,155 (GRCm38) splice site probably null
IGL02095:Ehf APN 2 103,266,991 (GRCm38) missense probably damaging 1.00
R0399:Ehf UTSW 2 103,266,870 (GRCm38) missense probably damaging 1.00
R1116:Ehf UTSW 2 103,267,009 (GRCm38) missense probably damaging 1.00
R1728:Ehf UTSW 2 103,273,906 (GRCm38) missense possibly damaging 0.51
R1729:Ehf UTSW 2 103,273,906 (GRCm38) missense possibly damaging 0.51
R2240:Ehf UTSW 2 103,274,075 (GRCm38) missense probably benign
R2287:Ehf UTSW 2 103,267,124 (GRCm38) missense possibly damaging 0.89
R2397:Ehf UTSW 2 103,276,819 (GRCm38) missense probably damaging 0.99
R4094:Ehf UTSW 2 103,290,750 (GRCm38) intron probably benign
R4687:Ehf UTSW 2 103,267,126 (GRCm38) missense probably damaging 1.00
R4930:Ehf UTSW 2 103,266,857 (GRCm38) missense probably damaging 1.00
R5925:Ehf UTSW 2 103,266,993 (GRCm38) splice site probably null
R6656:Ehf UTSW 2 103,283,583 (GRCm38) missense probably damaging 1.00
R8217:Ehf UTSW 2 103,279,631 (GRCm38) missense possibly damaging 0.94
R9008:Ehf UTSW 2 103,266,828 (GRCm38) missense
Z1176:Ehf UTSW 2 103,279,518 (GRCm38) missense probably null 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-11-09