Incidental Mutation 'R8217:Ehf'
ID 636403
Institutional Source Beutler Lab
Gene Symbol Ehf
Ensembl Gene ENSMUSG00000012350
Gene Name ets homologous factor
Synonyms 9030625L19Rik
MMRRC Submission 067658-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R8217 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 103093776-103133620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103109976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 77 (E77G)
Ref Sequence ENSEMBL: ENSMUSP00000087961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090475] [ENSMUST00000111174] [ENSMUST00000111176] [ENSMUST00000125788] [ENSMUST00000140503] [ENSMUST00000151265]
AlphaFold O70273
Predicted Effect possibly damaging
Transcript: ENSMUST00000090475
AA Change: E77G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: E77G

DomainStartEndE-ValueType
SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111174
AA Change: E77G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: E77G

DomainStartEndE-ValueType
SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111176
AA Change: E77G

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: E77G

DomainStartEndE-ValueType
SAM_PNT 31 115 1.39e-35 SMART
ETS 183 270 1.84e-52 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000125788
AA Change: E88G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121103
Gene: ENSMUSG00000012350
AA Change: E88G

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 possibly damaging
Transcript: ENSMUST00000140503
AA Change: E116G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114979
Gene: ENSMUSG00000012350
AA Change: E116G

DomainStartEndE-ValueType
SAM_PNT 70 154 1.39e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151265
AA Change: E77G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118275
Gene: ENSMUSG00000012350
AA Change: E77G

DomainStartEndE-ValueType
SAM_PNT 31 115 1.39e-35 SMART
Meta Mutation Damage Score 0.1214 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,037,921 (GRCm39) L406P probably damaging Het
Aph1b T C 9: 66,686,554 (GRCm39) K239E possibly damaging Het
Atp13a4 C A 16: 29,222,619 (GRCm39) V1102F Het
B3gat1 G A 9: 26,668,165 (GRCm39) A265T probably damaging Het
Bod1l T C 5: 41,988,850 (GRCm39) E419G probably damaging Het
Ccdc142 T C 6: 83,080,197 (GRCm39) L380P probably damaging Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cfi A C 3: 129,648,650 (GRCm39) N178T possibly damaging Het
Col5a1 T A 2: 27,812,135 (GRCm39) D72E unknown Het
Cspg4 T A 9: 56,797,637 (GRCm39) V1367D possibly damaging Het
D5Ertd579e A C 5: 36,771,402 (GRCm39) S998A probably benign Het
Erap1 T C 13: 74,820,937 (GRCm39) I662T probably benign Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Klhl8 A G 5: 104,015,466 (GRCm39) V486A possibly damaging Het
Lrrc72 A T 12: 36,258,676 (GRCm39) D60E probably damaging Het
Marchf5 C T 19: 37,185,210 (GRCm39) probably benign Het
Mtmr12 T C 15: 12,259,726 (GRCm39) I365T possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nod2 A C 8: 89,390,785 (GRCm39) D364A probably benign Het
Numa1 T A 7: 101,641,876 (GRCm39) M108K possibly damaging Het
Nutm2 G T 13: 50,623,759 (GRCm39) R152L probably benign Het
Or14c43 A G 7: 86,115,390 (GRCm39) Y257C probably damaging Het
Or2t46 A T 11: 58,471,792 (GRCm39) M41L probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pak1ip1 T A 13: 41,166,126 (GRCm39) S350R probably benign Het
Pcdha3 T C 18: 37,079,974 (GRCm39) F239L probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkm C T 9: 59,586,092 (GRCm39) T524I possibly damaging Het
Plekhg2 T A 7: 28,067,717 (GRCm39) Q245L probably null Het
Pola2 T A 19: 6,013,855 (GRCm39) K26N possibly damaging Het
Prune2 G T 19: 17,097,480 (GRCm39) A995S probably benign Het
Rap2b C A 3: 61,272,551 (GRCm39) T25K possibly damaging Het
Scrib A G 15: 75,939,004 (GRCm39) S165P probably damaging Het
Sdk1 A T 5: 142,197,713 (GRCm39) H2122L possibly damaging Het
Sec24b A T 3: 129,834,599 (GRCm39) F200I possibly damaging Het
Sh3rf1 T C 8: 61,782,964 (GRCm39) V226A possibly damaging Het
Sik1 T A 17: 32,070,286 (GRCm39) H141L probably damaging Het
Slc9a5 A T 8: 106,089,956 (GRCm39) E638V probably damaging Het
Slco1a5 A G 6: 142,221,202 (GRCm39) C15R probably benign Het
Slit1 C T 19: 41,612,959 (GRCm39) D854N possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tec A T 5: 72,921,602 (GRCm39) M372K probably benign Het
Tlr2 A G 3: 83,745,373 (GRCm39) F237L probably benign Het
Trio A T 15: 27,819,055 (GRCm39) L1597Q probably damaging Het
Trpa1 A T 1: 14,957,247 (GRCm39) M723K probably damaging Het
Ttc21a T C 9: 119,783,694 (GRCm39) I592T probably benign Het
Vmn2r94 T C 17: 18,463,986 (GRCm39) E768G probably damaging Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zpld1 A G 16: 55,047,295 (GRCm39) probably null 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
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
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'- GAAAACAGTCATTTGGAGTTGTCAC -3'
(R):5'- GCCATAATTCTTGTGTCTGAGACC -3'

Sequencing Primer
(F):5'- GAGTTGTCACTCCTGAGAAGG -3'
(R):5'- CCTCTCAGAAGCAAGAAGGGGC -3'
Posted On 2020-07-13