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: 0.711) question?
Stock # R5695 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103093776-103133620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103097124 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 84,660,745 (GRCm39) H116L probably damaging Het
Anapc4 C T 5: 53,019,581 (GRCm39) S581L probably benign Het
Ano8 A C 8: 71,935,887 (GRCm39) D276E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Bpifb4 G A 2: 153,784,843 (GRCm39) G184S probably damaging Het
Cbx8 T C 11: 118,930,137 (GRCm39) D152G probably benign Het
Cdca2 A G 14: 67,943,078 (GRCm39) probably null Het
Cgn G A 3: 94,680,945 (GRCm39) A531V probably benign Het
Cmya5 C A 13: 93,182,374 (GRCm39) probably null Het
Cntnap3 A G 13: 64,935,769 (GRCm39) S365P probably damaging Het
Crnn A G 3: 93,056,330 (GRCm39) Q372R probably damaging Het
Eif4g3 T A 4: 137,890,744 (GRCm39) probably null Het
Enpep C T 3: 129,102,748 (GRCm39) D403N probably damaging Het
Enpp1 T C 10: 24,530,806 (GRCm39) E550G probably damaging Het
Entpd8 A G 2: 24,974,346 (GRCm39) D377G probably benign Het
Epc2 T A 2: 49,437,619 (GRCm39) probably null Het
Erich3 G T 3: 154,439,210 (GRCm39) G481V probably damaging Het
Fank1 A G 7: 133,471,075 (GRCm39) Y156C probably damaging Het
Fras1 A G 5: 96,929,203 (GRCm39) D3869G probably damaging Het
Gcnt2 A G 13: 41,071,675 (GRCm39) D106G probably benign Het
Gm20830 A T Y: 6,916,501 (GRCm39) V206E probably benign Het
Gmpr2 T C 14: 55,914,691 (GRCm39) V228A possibly damaging Het
Gon4l TGAGCA TGAGCAGAGCA 3: 88,803,523 (GRCm39) probably null Het
Gtpbp1 G A 15: 79,596,375 (GRCm39) probably null Het
Hhat A T 1: 192,399,327 (GRCm39) M271K probably damaging Het
Hipk2 A T 6: 38,795,810 (GRCm39) M153K possibly damaging Het
Hydin A T 8: 111,261,915 (GRCm39) H2672L probably benign Het
Igfbpl1 A T 4: 45,826,374 (GRCm39) D140E probably damaging Het
Kctd1 T G 18: 15,196,573 (GRCm39) probably benign Het
Lax1 A T 1: 133,608,316 (GRCm39) Y142N probably damaging Het
Lpin2 C T 17: 71,551,798 (GRCm39) R733C probably damaging Het
Morn4 A G 19: 42,064,556 (GRCm39) L144P possibly damaging Het
Nup214 C A 2: 31,924,385 (GRCm39) T1638K probably damaging Het
Nyap1 C T 5: 137,733,246 (GRCm39) A596T probably damaging Het
Oas1d T C 5: 121,053,074 (GRCm39) M43T probably benign Het
Or4l15 T C 14: 50,198,080 (GRCm39) T150A probably benign Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Or8b42 A G 9: 38,342,472 (GRCm39) H298R probably benign Het
Pacs1 A G 19: 5,186,819 (GRCm39) F851S probably damaging Het
Pcdh17 A G 14: 84,683,800 (GRCm39) Q89R probably damaging Het
Phrf1 A G 7: 140,838,378 (GRCm39) probably benign Het
Plekhb1 A T 7: 100,304,602 (GRCm39) I34N probably damaging Het
Ralgapa2 T C 2: 146,175,397 (GRCm39) E1800G probably damaging Het
Rbm33 A T 5: 28,544,010 (GRCm39) I89F probably damaging Het
Rtl1 T A 12: 109,560,531 (GRCm39) E436V probably damaging Het
Slc2a4 G T 11: 69,837,217 (GRCm39) P73Q probably damaging Het
Sorbs2 A T 8: 46,245,912 (GRCm39) T311S probably benign Het
Sulf2 G A 2: 165,974,678 (GRCm39) A2V probably benign Het
Supt16 A T 14: 52,411,601 (GRCm39) probably null Het
Vmn1r26 A T 6: 57,985,738 (GRCm39) N150K probably damaging Het
Vmn2r39 T A 7: 9,028,150 (GRCm39) H407L possibly damaging Het
Vmn2r84 T A 10: 130,225,064 (GRCm39) Y482F probably benign Het
Vps9d1 T C 8: 123,973,655 (GRCm39) E376G probably benign Het
Wrn C A 8: 33,814,346 (GRCm39) G366V probably benign Het
Other mutations in Ehf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Ehf APN 2 103,097,185 (GRCm39) splice site probably null
IGL01296:Ehf APN 2 103,098,500 (GRCm39) splice site probably null
IGL02095:Ehf APN 2 103,097,336 (GRCm39) missense probably damaging 1.00
R0399:Ehf UTSW 2 103,097,215 (GRCm39) missense probably damaging 1.00
R1116:Ehf UTSW 2 103,097,354 (GRCm39) missense probably damaging 1.00
R1728:Ehf UTSW 2 103,104,251 (GRCm39) missense possibly damaging 0.51
R1729:Ehf UTSW 2 103,104,251 (GRCm39) missense possibly damaging 0.51
R2240:Ehf UTSW 2 103,104,420 (GRCm39) missense probably benign
R2287:Ehf UTSW 2 103,097,469 (GRCm39) missense possibly damaging 0.89
R2397:Ehf UTSW 2 103,107,164 (GRCm39) missense probably damaging 0.99
R4094:Ehf UTSW 2 103,121,095 (GRCm39) intron probably benign
R4687:Ehf UTSW 2 103,097,471 (GRCm39) missense probably damaging 1.00
R4930:Ehf UTSW 2 103,097,202 (GRCm39) missense probably damaging 1.00
R5925:Ehf UTSW 2 103,097,338 (GRCm39) splice site probably null
R6656:Ehf UTSW 2 103,113,928 (GRCm39) missense probably damaging 1.00
R8217:Ehf UTSW 2 103,109,976 (GRCm39) missense possibly damaging 0.94
R9008:Ehf UTSW 2 103,097,173 (GRCm39) missense
Z1176:Ehf UTSW 2 103,109,863 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- AAACTGTGTACATTTGTTCCCC -3'
(R):5'- TCACGTTCTTCCATGGCCAG -3'

Sequencing Primer
(F):5'- TTGTTCCCCACAAAAGGACATACTTC -3'
(R):5'- GAAATCCTGGAACGTGTG -3'
Posted On 2016-11-09