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
Is this an essential gene? Probably essential (E-score: 0.757) question?
Stock # IGL02095
Quality Score
Status
Chromosome 2
Chromosomal Location 103263433-103303278 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103266991 bp (GRCm38)
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

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: Y260C

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

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: Y237C

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

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
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: 32,661,626 Q794L probably benign Het
Acrbp C A 6: 125,053,956 Y313* probably null Het
Adam9 A G 8: 24,996,729 S178P probably benign Het
Adgrv1 T C 13: 81,579,790 I244V possibly damaging Het
Atad5 A G 11: 80,094,707 S207G probably benign Het
Atp10a A G 7: 58,807,393 D880G probably damaging Het
Cadps2 A G 6: 23,427,310 I573T probably benign Het
Camsap3 A G 8: 3,603,845 D494G probably damaging Het
Cbfa2t3 T C 8: 122,633,493 E438G probably damaging Het
Cisd2 T C 3: 135,411,219 D37G possibly damaging Het
Cndp2 T C 18: 84,681,032 E36G possibly damaging Het
Ddx54 G A 5: 120,623,791 G544D possibly damaging Het
Dok2 G T 14: 70,777,861 G343W possibly damaging Het
Dscaml1 A G 9: 45,447,703 N87D probably damaging Het
Exoc3 T C 13: 74,180,536 T569A probably damaging Het
Fam151a T C 4: 106,747,875 V478A probably damaging Het
Fam227b T A 2: 126,101,004 H291L probably damaging Het
Fmn2 A G 1: 174,502,601 T186A unknown Het
Ggnbp2 T C 11: 84,833,128 Y660C probably damaging Het
Ggt5 G A 10: 75,608,803 M318I probably benign Het
Gprc5d A G 6: 135,116,177 I244T probably damaging Het
Gucy2e A G 11: 69,232,787 S429P possibly damaging Het
Igf2r T C 17: 12,702,005 D1341G probably damaging Het
Kcnq4 T C 4: 120,700,027 probably benign Het
Krt40 T C 11: 99,541,671 D173G probably damaging Het
Lrrc27 C T 7: 139,230,253 T380I probably benign Het
Lrrc4c A G 2: 97,629,404 N125S probably benign Het
Mtor C T 4: 148,544,541 R2217C probably damaging Het
Nfrkb C T 9: 31,411,231 R866W probably damaging Het
Olfr1424 C A 19: 12,059,549 V68F probably benign Het
Olfr982 T A 9: 40,074,671 Y125* probably null Het
P2ry6 T A 7: 100,938,864 D96V probably damaging Het
Pcdh18 A T 3: 49,756,156 S237T probably benign Het
Pck2 G A 14: 55,542,510 R72Q probably benign Het
Pik3c2a C T 7: 116,346,188 R1461Q probably damaging Het
Polr3a A G 14: 24,454,610 V1130A possibly damaging Het
Ppm1d T A 11: 85,327,006 D198E probably benign Het
Rasa1 T A 13: 85,216,155 E1022D probably benign Het
Rbm25 T C 12: 83,671,974 Y507H probably damaging Het
Rbm26 A T 14: 105,144,260 I488K probably damaging Het
Ryr2 T A 13: 11,759,759 E1170D probably damaging Het
Sdk2 T G 11: 113,834,830 T1198P probably damaging Het
Sema3g C T 14: 31,227,824 T654I probably benign Het
Spag9 A T 11: 94,108,582 H1108L probably damaging Het
Tcrg-C2 T A 13: 19,307,410 probably benign Het
Ubap2 T C 4: 41,229,709 N142S probably benign Het
Usp33 T C 3: 152,381,794 F699L possibly damaging Het
Ythdc2 A G 18: 44,873,140 probably benign Het
Other mutations in Ehf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Ehf APN 2 103266840 splice site probably null
IGL01296:Ehf APN 2 103268155 splice site probably null
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 2015-04-16