Incidental Mutation 'R2240:Ehf'
ID 240290
Institutional Source Beutler Lab
Gene Symbol Ehf
Ensembl Gene ENSMUSG00000012350
Gene Name ets homologous factor
Synonyms 9030625L19Rik
MMRRC Submission 040240-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R2240 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103093776-103133620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103104420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 163 (P163S)
Ref Sequence ENSEMBL: ENSMUSP00000121103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090475] [ENSMUST00000111174] [ENSMUST00000111176] [ENSMUST00000125788] [ENSMUST00000140503] [ENSMUST00000151265]
AlphaFold O70273
Predicted Effect probably benign
Transcript: ENSMUST00000090475
AA Change: P152S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: P152S

SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111174
AA Change: P152S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: P152S

SAM_PNT 31 115 1.39e-35 SMART
ETS 206 293 1.84e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111176
AA Change: P152S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: P152S

SAM_PNT 31 115 1.39e-35 SMART
ETS 183 270 1.84e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125788
AA Change: P163S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121103
Gene: ENSMUSG00000012350
AA Change: P163S

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
Predicted Effect probably benign
Transcript: ENSMUST00000140503
SMART Domains Protein: ENSMUSP00000114979
Gene: ENSMUSG00000012350

SAM_PNT 70 154 1.39e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151265
SMART Domains Protein: ENSMUSP00000118275
Gene: ENSMUSG00000012350

SAM_PNT 31 115 1.39e-35 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,417 (GRCm39) I318N probably damaging Het
Abl1 A G 2: 31,690,517 (GRCm39) K679E probably benign Het
Actr8 A G 14: 29,711,714 (GRCm39) H420R possibly damaging Het
Arhgap29 T A 3: 121,805,102 (GRCm39) V897D probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bicc1 A G 10: 70,782,633 (GRCm39) probably null Het
Brd4 T C 17: 32,432,613 (GRCm39) probably benign Het
Camk2g T C 14: 20,815,514 (GRCm39) E184G probably damaging Het
Camta1 T C 4: 151,169,032 (GRCm39) S240G possibly damaging Het
Cbx7 C A 15: 79,802,558 (GRCm39) A240S probably damaging Het
Ccdc181 A T 1: 164,107,596 (GRCm39) D93V probably damaging Het
Ces2g A C 8: 105,689,134 (GRCm39) S37R probably benign Het
Clca3a1 T A 3: 144,714,746 (GRCm39) R624W probably damaging Het
Clca3b T C 3: 144,531,696 (GRCm39) K703E probably benign Het
Clec2h T C 6: 128,652,845 (GRCm39) V204A probably benign Het
Cltb T C 13: 54,746,967 (GRCm39) N3S possibly damaging Het
Col9a1 A G 1: 24,218,582 (GRCm39) I65V unknown Het
D430041D05Rik C T 2: 103,987,161 (GRCm39) R1895Q probably damaging Het
Dnah1 T C 14: 31,021,931 (GRCm39) S1191G probably benign Het
Fam170b A C 14: 32,557,825 (GRCm39) H220P probably damaging Het
Fastkd1 G A 2: 69,527,297 (GRCm39) T598I probably benign Het
Fignl2 C T 15: 100,951,916 (GRCm39) G122D probably damaging Het
Foxp4 C A 17: 48,182,201 (GRCm39) V530L unknown Het
Gcnt1 G T 19: 17,306,695 (GRCm39) D343E possibly damaging Het
Gja8 T G 3: 96,827,618 (GRCm39) N15H probably benign Het
Gm128 T C 3: 95,148,243 (GRCm39) E17G probably benign Het
Gnl1 T C 17: 36,293,571 (GRCm39) V252A probably benign Het
Gpld1 G A 13: 25,166,490 (GRCm39) probably null Het
Gpr179 A G 11: 97,242,559 (GRCm39) L95P probably damaging Het
Gtf2a1 A T 12: 91,553,513 (GRCm39) D31E possibly damaging Het
Il12a T A 3: 68,601,517 (GRCm39) Y58* probably null Het
Il1r2 T C 1: 40,144,630 (GRCm39) W106R probably damaging Het
Kif26b A G 1: 178,543,488 (GRCm39) S374G probably benign Het
Mafb A T 2: 160,207,947 (GRCm39) V217E probably damaging Het
Mapk13 T A 17: 28,997,085 (GRCm39) D292E probably damaging Het
Matn2 A G 15: 34,433,209 (GRCm39) D871G probably damaging Het
Mdn1 C A 4: 32,765,701 (GRCm39) T5220K possibly damaging Het
Mfsd6 T C 1: 52,699,978 (GRCm39) I723M probably damaging Het
Mia2 G A 12: 59,154,668 (GRCm39) S127N probably benign Het
Mpeg1 A C 19: 12,440,402 (GRCm39) E620A probably damaging Het
Mrgprb3 A T 7: 48,293,389 (GRCm39) F54Y probably damaging Het
Mtx2 A G 2: 74,699,696 (GRCm39) I156V probably benign Het
Neurog1 T C 13: 56,399,348 (GRCm39) E133G probably damaging Het
Nid2 G A 14: 19,855,982 (GRCm39) D1236N probably damaging Het
Nif3l1 A G 1: 58,491,288 (GRCm39) T213A probably benign Het
Or7e173 A G 9: 19,938,440 (GRCm39) S265P probably damaging Het
Otog A G 7: 45,890,453 (GRCm39) M1V probably null Het
Pde4dip C T 3: 97,631,480 (GRCm39) R1143K probably benign Het
Pgam2 T C 11: 5,753,265 (GRCm39) probably benign Het
Plec T C 15: 76,090,250 (GRCm39) D30G probably damaging Het
Pramel5 C A 4: 143,999,506 (GRCm39) E194* probably null Het
Prss22 T A 17: 24,215,755 (GRCm39) S56C probably damaging Het
Rab23 A G 1: 33,778,406 (GRCm39) N216S probably benign Het
Rasgrf1 A T 9: 89,858,815 (GRCm39) E491V probably damaging Het
Rbbp8 C T 18: 11,810,726 (GRCm39) T76I probably damaging Het
Rtn2 G A 7: 19,020,754 (GRCm39) probably null Het
Sdr39u1 A T 14: 56,137,124 (GRCm39) N62K probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc26a3 T C 12: 31,507,071 (GRCm39) V342A probably damaging Het
Slc49a3 A G 5: 108,592,573 (GRCm39) S234P probably benign Het
Snx30 G T 4: 59,886,515 (GRCm39) C308F probably damaging Het
Timd2 A T 11: 46,569,043 (GRCm39) V205E probably benign Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfaip6 G A 2: 51,940,926 (GRCm39) D156N probably benign Het
Uggt2 T A 14: 119,232,461 (GRCm39) E1463D probably damaging Het
Urb2 C A 8: 124,756,878 (GRCm39) P862T probably benign Het
Vmn1r64 A T 7: 5,887,369 (GRCm39) L58* probably null Het
Vmn2r3 C A 3: 64,166,483 (GRCm39) G883C probably benign Het
Vps13d A T 4: 144,837,465 (GRCm39) C2707S possibly damaging Het
Wdr11 G T 7: 129,207,418 (GRCm39) probably null Het
Wdr37 T A 13: 8,911,268 (GRCm39) probably benign Het
Wtap G A 17: 13,194,352 (GRCm39) Q95* probably null Het
Zfp26 A T 9: 20,348,563 (GRCm39) L667H probably damaging Het
Zfp268 C T 4: 145,311,891 (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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15