Incidental Mutation 'IGL00731:Ehf'
ID 10454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehf
Ensembl Gene ENSMUSG00000012350
Gene Name ets homologous factor
Synonyms 9030625L19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.750) question?
Stock # IGL00731
Quality Score
Status
Chromosome 2
Chromosomal Location 103263433-103303278 bp(-) (GRCm38)
Type of Mutation splice site (236 bp from exon)
DNA Base Change (assembly) C to T at 103266840 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090475] [ENSMUST00000111174] [ENSMUST00000111176] [ENSMUST00000125788]
AlphaFold O70273
Predicted Effect probably damaging
Transcript: ENSMUST00000090475
AA Change: V279M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: V279M

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: V279M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: V279M

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: V256M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: V256M

DomainStartEndE-ValueType
SAM_PNT 31 115 1.39e-35 SMART
ETS 183 270 1.84e-52 SMART
Predicted Effect probably null
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
Coding Region Coverage
Validation Efficiency
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,044,869 probably benign Het
Adcy10 T C 1: 165,572,614 F1531L probably benign Het
Dab2 T C 15: 6,435,710 S463P possibly damaging Het
Fnbp4 G T 2: 90,768,643 V704L probably benign Het
Gbp7 T C 3: 142,546,428 S591P probably benign Het
Gpr155 A G 2: 73,362,613 L498P probably damaging Het
Igll1 T C 16: 16,860,919 T176A probably benign Het
Klk1b21 A G 7: 44,105,923 E182G possibly damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Npat G A 9: 53,562,086 E393K probably damaging Het
Npnt C T 3: 132,904,657 probably null Het
Pde2a A G 7: 101,508,099 Y693C probably benign Het
Ralgapa1 A G 12: 55,702,452 S1269P possibly damaging Het
Rasal2 A C 1: 157,157,764 D804E probably benign Het
Rdh10 A G 1: 16,107,875 N124D probably benign Het
Slit3 G T 11: 35,622,154 D536Y probably damaging Het
Snx24 C T 18: 53,384,609 probably benign Het
Spink12 G A 18: 44,108,110 probably benign Het
Other mutations in Ehf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Ehf APN 2 103268155 splice site probably null
IGL02095:Ehf APN 2 103266991 missense probably damaging 1.00
R0399:Ehf UTSW 2 103266870 missense probably damaging 1.00
R1116:Ehf UTSW 2 103267009 missense probably damaging 1.00
R1728:Ehf UTSW 2 103273906 missense possibly damaging 0.51
R1729:Ehf UTSW 2 103273906 missense possibly damaging 0.51
R2240:Ehf UTSW 2 103274075 missense probably benign
R2287:Ehf UTSW 2 103267124 missense possibly damaging 0.89
R2397:Ehf UTSW 2 103276819 missense probably damaging 0.99
R4094:Ehf UTSW 2 103290750 intron probably benign
R4687:Ehf UTSW 2 103267126 missense probably damaging 1.00
R4930:Ehf UTSW 2 103266857 missense probably damaging 1.00
R5695:Ehf UTSW 2 103266779 missense probably damaging 1.00
R5925:Ehf UTSW 2 103266993 splice site probably null
R6656:Ehf UTSW 2 103283583 missense probably damaging 1.00
R8217:Ehf UTSW 2 103279631 missense possibly damaging 0.94
R9008:Ehf UTSW 2 103266828 missense
Z1176:Ehf UTSW 2 103279518 missense probably null 1.00
Posted On 2012-12-06