Incidental Mutation 'R9008:Ehf'
ID 685403
Institutional Source Beutler Lab
Gene Symbol Ehf
Ensembl Gene ENSMUSG00000012350
Gene Name ets homologous factor
Synonyms 9030625L19Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.750) question?
Stock # R9008 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 103263433-103303278 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103266828 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 283 (R283W)
Ref Sequence ENSEMBL: ENSMUSP00000087961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090475] [ENSMUST00000111174] [ENSMUST00000111176] [ENSMUST00000125788]
AlphaFold O70273
Predicted Effect
SMART Domains Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: R283W

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: R283W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: R283W

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: R260W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: R260W

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
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (78/80)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415O20Rik T G 15: 98,588,612 S88A possibly damaging Het
4930504O13Rik T A 11: 58,447,383 E61V probably benign Het
Abcc4 A T 14: 118,611,750 S536R probably damaging Het
Acacb G A 5: 114,248,754 silent Het
Acsm1 T C 7: 119,659,102 Y473H probably benign Het
Adam30 T A 3: 98,162,718 C622* probably null Het
Adprhl2 C T 4: 126,316,839 V283M probably damaging Het
AI606181 G T 19: 41,593,593 R67S unknown Het
Btbd3 A G 2: 138,283,533 I212M probably benign Het
C1s1 C T 6: 124,532,540 probably null Het
C7 T A 15: 5,010,927 T539S Het
Cd5l A C 3: 87,368,665 D314A probably damaging Het
Celsr3 T A 9: 108,828,952 V878E possibly damaging Het
Cfap74 T C 4: 155,418,664 S38P Het
Chst2 C T 9: 95,406,294 probably benign Het
Deaf1 T C 7: 141,324,165 T103A probably damaging Het
Deup1 T A 9: 15,599,844 D213V probably damaging Het
Dhrs1 A G 14: 55,741,181 probably null Het
Dnah7a A G 1: 53,662,342 V218A possibly damaging Het
Dock7 G A 4: 98,945,211 Q1950* probably null Het
Elovl3 A T 19: 46,134,648 N221I possibly damaging Het
Gm11938 A T 11: 99,603,140 V43E probably damaging Het
Gm12394 C T 4: 42,792,546 G529S probably benign Het
Hmcn1 T C 1: 150,755,044 probably benign Het
Hnf4g A G 3: 3,643,036 N115S probably benign Het
Hnrnpr A T 4: 136,329,426 N246Y probably damaging Het
Itpka A G 2: 119,749,413 E211G probably damaging Het
Krt78 TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA 15: 101,946,776 probably benign Het
Lcorl A T 5: 45,774,174 probably benign Het
Mgat5 T C 1: 127,479,571 I658T probably damaging Het
Mier2 G A 10: 79,548,440 R166W probably damaging Het
Mov10 A G 3: 104,800,016 Y606H probably benign Het
Naa38 T G 11: 69,396,322 V76G probably damaging Het
Nelfe C A 17: 34,854,358 P290T possibly damaging Het
Nfil3 A T 13: 52,967,573 Y432N probably damaging Het
Nipbl T C 15: 8,327,124 K1593E probably damaging Het
Nlrc3 G C 16: 3,958,943 L56V possibly damaging Het
Nlrp1a A T 11: 71,123,909 F172I possibly damaging Het
Ntn4 T A 10: 93,733,604 probably benign Het
Nudt2 G A 4: 41,480,288 R57Q probably damaging Het
Obsl1 A C 1: 75,505,383 L281W probably benign Het
Olfm4 A T 14: 80,018,167 N250I unknown Het
Olfr1375 G A 11: 51,048,111 M1I probably null Het
Olfr165 T A 16: 19,407,423 I198F probably benign Het
Olfr432 T A 1: 174,050,847 V158E probably damaging Het
Olfr456 T C 6: 42,486,969 S75G probably damaging Het
Olfr469 A G 7: 107,823,421 I16T possibly damaging Het
Pappa A T 4: 65,156,189 T327S probably damaging Het
Pcdhb4 T G 18: 37,307,661 M8R probably benign Het
Phf21b T A 15: 84,787,362 I444F probably damaging Het
Pkd1l2 A C 8: 117,042,298 V1205G probably benign Het
Plec T C 15: 76,176,032 Y3235C probably damaging Het
Pnmt C T 11: 98,388,006 T266I possibly damaging Het
Ppfia2 T A 10: 106,819,359 D262E probably benign Het
Rabggta A T 14: 55,718,456 L448Q probably damaging Het
Rap1gds1 C T 3: 138,955,416 R449H probably benign Het
Rictor T A 15: 6,772,129 probably benign Het
Rttn T C 18: 89,009,432 F557S probably damaging Het
Ryr3 A G 2: 112,635,403 C4809R probably damaging Het
Sacs A C 14: 61,204,543 D1346A probably benign Het
Slain1 T A 14: 103,685,755 S261T probably damaging Het
Slc22a4 C T 11: 53,990,838 W351* probably null Het
Smpd3 C T 8: 106,257,426 G554S probably benign Het
Spag17 C T 3: 100,027,626 S716F possibly damaging Het
Spg11 C T 2: 122,069,932 M1546I probably benign Het
Stac3 C T 10: 127,503,585 L117F probably damaging Het
Surf6 A G 2: 26,892,524 W264R probably damaging Het
Taar7e T C 10: 24,037,912 V100A probably damaging Het
Tenm3 T C 8: 48,342,653 H534R probably damaging Het
Tinagl1 C A 4: 130,174,030 R57L probably damaging Het
Tnfrsf11a G A 1: 105,827,129 A309T possibly damaging Het
Traf6 A G 2: 101,696,988 Y361C possibly damaging Het
Ttn A T 2: 76,946,990 probably benign Het
Ufl1 A T 4: 25,254,778 Y559* probably null Het
Upk1b A T 16: 38,787,208 N52K probably damaging Het
Uqcrb A G 13: 66,905,299 S5P probably benign Het
Use1 A G 8: 71,367,044 Y3C unknown Het
Usp9y T A Y: 1,434,993 I279L possibly damaging Het
Vmn1r142 A G 7: 22,163,371 L222P probably damaging Het
Vmn1r184 A C 7: 26,267,752 N308H probably benign Het
Vmn2r14 C A 5: 109,220,027 M366I probably benign Het
Vmn2r73 G T 7: 85,872,696 S145Y probably damaging Het
Wdfy1 A T 1: 79,714,980 W207R probably damaging Het
Zbtb38 A T 9: 96,687,047 N661K probably benign Het
Zkscan3 G T 13: 21,388,213 H416Q possibly damaging 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
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
Z1176:Ehf UTSW 2 103279518 missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTCTTCCCGTCAGAAGTAG -3'
(R):5'- CTGAAGTCAGAAGCTGTGGC -3'

Sequencing Primer
(F):5'- CCCGTCAGAAGTAGATTTTCTTTG -3'
(R):5'- AAATAACAGTAGCATGACATACGAG -3'
Posted On 2021-10-11