Incidental Mutation 'IGL02095:Ehf'
ID 279582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehf
Ensembl Gene ENSMUSG00000012350
Gene Name ets homologous factor
Synonyms 9030625L19Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # IGL02095
Quality Score
Chromosome 2
Chromosomal Location 103093776-103133620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103097336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 237 (Y237C)
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: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: Y260C

SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111174
AA Change: Y260C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: Y260C

SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111176
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: Y237C

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,583 (GRCm39) Q794L probably benign Het
Acrbp C A 6: 125,030,919 (GRCm39) Y313* probably null Het
Adam9 A G 8: 25,486,745 (GRCm39) S178P probably benign Het
Adgrv1 T C 13: 81,727,909 (GRCm39) I244V possibly damaging Het
Atad5 A G 11: 79,985,533 (GRCm39) S207G probably benign Het
Atp10a A G 7: 58,457,141 (GRCm39) D880G probably damaging Het
Cadps2 A G 6: 23,427,309 (GRCm39) I573T probably benign Het
Camsap3 A G 8: 3,653,845 (GRCm39) D494G probably damaging Het
Cbfa2t3 T C 8: 123,360,232 (GRCm39) E438G probably damaging Het
Cisd2 T C 3: 135,116,980 (GRCm39) D37G possibly damaging Het
Cndp2 T C 18: 84,699,157 (GRCm39) E36G possibly damaging Het
Ddx54 G A 5: 120,761,856 (GRCm39) G544D possibly damaging Het
Dok2 G T 14: 71,015,301 (GRCm39) G343W possibly damaging Het
Dscaml1 A G 9: 45,359,001 (GRCm39) N87D probably damaging Het
Exoc3 T C 13: 74,328,655 (GRCm39) T569A probably damaging Het
Fam151a T C 4: 106,605,072 (GRCm39) V478A probably damaging Het
Fam227b T A 2: 125,942,924 (GRCm39) H291L probably damaging Het
Fmn2 A G 1: 174,330,167 (GRCm39) T186A unknown Het
Ggnbp2 T C 11: 84,723,954 (GRCm39) Y660C probably damaging Het
Ggt5 G A 10: 75,444,637 (GRCm39) M318I probably benign Het
Gprc5d A G 6: 135,093,175 (GRCm39) I244T probably damaging Het
Gucy2e A G 11: 69,123,613 (GRCm39) S429P possibly damaging Het
Igf2r T C 17: 12,920,892 (GRCm39) D1341G probably damaging Het
Kcnq4 T C 4: 120,557,224 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,497 (GRCm39) D173G probably damaging Het
Lrrc27 C T 7: 138,810,169 (GRCm39) T380I probably benign Het
Lrrc4c A G 2: 97,459,749 (GRCm39) N125S probably benign Het
Mtor C T 4: 148,628,998 (GRCm39) R2217C probably damaging Het
Nfrkb C T 9: 31,322,527 (GRCm39) R866W probably damaging Het
Or10s1 T A 9: 39,985,967 (GRCm39) Y125* probably null Het
Or4d10b C A 19: 12,036,913 (GRCm39) V68F probably benign Het
P2ry6 T A 7: 100,588,071 (GRCm39) D96V probably damaging Het
Pcdh18 A T 3: 49,710,605 (GRCm39) S237T probably benign Het
Pck2 G A 14: 55,779,967 (GRCm39) R72Q probably benign Het
Pik3c2a C T 7: 115,945,423 (GRCm39) R1461Q probably damaging Het
Polr3a A G 14: 24,504,678 (GRCm39) V1130A possibly damaging Het
Ppm1d T A 11: 85,217,832 (GRCm39) D198E probably benign Het
Rasa1 T A 13: 85,364,274 (GRCm39) E1022D probably benign Het
Rbm25 T C 12: 83,718,748 (GRCm39) Y507H probably damaging Het
Rbm26 A T 14: 105,381,696 (GRCm39) I488K probably damaging Het
Ryr2 T A 13: 11,774,645 (GRCm39) E1170D probably damaging Het
Sdk2 T G 11: 113,725,656 (GRCm39) T1198P probably damaging Het
Sema3g C T 14: 30,949,781 (GRCm39) T654I probably benign Het
Spag9 A T 11: 93,999,408 (GRCm39) H1108L probably damaging Het
Trgc2 T A 13: 19,491,580 (GRCm39) probably benign Het
Ubap2 T C 4: 41,229,709 (GRCm39) N142S probably benign Het
Usp33 T C 3: 152,087,431 (GRCm39) F699L possibly damaging Het
Ythdc2 A G 18: 45,006,207 (GRCm39) 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
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
R5695:Ehf UTSW 2 103,097,124 (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
Posted On 2015-04-16