Incidental Mutation 'R7671:Epsti1'
ID 592180
Institutional Source Beutler Lab
Gene Symbol Epsti1
Ensembl Gene ENSMUSG00000022014
Gene Name epithelial stromal interaction 1 (breast)
Synonyms 5033415K03Rik, 2310046K10Rik, BRESI1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 77904239-78002657 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77904490 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 2 (Y2C)
Ref Sequence ENSEMBL: ENSMUSP00000022591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022591] [ENSMUST00000169978] [ENSMUST00000227903]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022591
AA Change: Y2C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
AA Change: Y2C

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169978
AA Change: Y2C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130138
Gene: ENSMUSG00000022014
AA Change: Y2C

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227903
AA Change: Y2C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,259,925 (GRCm38) I394N probably damaging Het
4930435E12Rik C T 16: 38,828,091 (GRCm38) D219N possibly damaging Het
4932438A13Rik T C 3: 36,943,231 (GRCm38) F1146L probably damaging Het
4933406M09Rik T C 1: 134,390,062 (GRCm38) C191R probably benign Het
Akap13 C A 7: 75,569,900 (GRCm38) T17K probably damaging Het
Ankrd29 T A 18: 12,260,986 (GRCm38) K257I probably damaging Het
Bicc1 A G 10: 70,957,167 (GRCm38) L219P probably benign Het
Boc C T 16: 44,491,849 (GRCm38) V617M Het
Ccl8 A G 11: 82,115,207 (GRCm38) probably benign Het
Col18a1 A G 10: 77,085,383 (GRCm38) L261P unknown Het
Col5a3 T A 9: 20,775,086 (GRCm38) probably null Het
Cryba4 A C 5: 112,248,173 (GRCm38) probably null Het
Csf2rb A G 15: 78,338,930 (GRCm38) Y114C probably damaging Het
Ctif T C 18: 75,472,016 (GRCm38) D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 (GRCm38) F261L probably damaging Het
Defb22 A T 2: 152,486,030 (GRCm38) N78K unknown Het
Efr3a G A 15: 65,837,434 (GRCm38) probably null Het
Elp4 G T 2: 105,904,481 (GRCm38) A3E probably damaging Het
Emilin2 A G 17: 71,273,910 (GRCm38) V607A probably benign Het
Fam81b A C 13: 76,271,293 (GRCm38) L46R probably damaging Het
Fam81b G T 13: 76,271,294 (GRCm38) L46I possibly damaging Het
Fbxo15 T A 18: 84,964,153 (GRCm38) H288Q probably damaging Het
Gabrg1 T A 5: 70,815,980 (GRCm38) N77I probably damaging Het
Ganab A G 19: 8,912,852 (GRCm38) Y715C possibly damaging Het
Hist3h2ba T C 11: 58,949,276 (GRCm38) S113P possibly damaging Het
Iqgap2 T C 13: 95,628,119 (GRCm38) D1539G probably damaging Het
Kcp T C 6: 29,496,517 (GRCm38) N633S probably benign Het
Krt6a C A 15: 101,690,543 (GRCm38) S529I unknown Het
Leo1 A G 9: 75,445,562 (GRCm38) H129R probably benign Het
Lmf1 G A 17: 25,579,349 (GRCm38) V55M possibly damaging Het
Mcm9 A G 10: 53,537,569 (GRCm38) S472P probably benign Het
Med27 T A 2: 29,377,938 (GRCm38) V33D Het
Mup15 C T 4: 61,438,289 (GRCm38) E80K probably benign Het
Myo18a G A 11: 77,859,420 (GRCm38) R199H Het
Nebl T A 2: 17,390,916 (GRCm38) R558* probably null Het
Olfr1121 A G 2: 87,372,269 (GRCm38) T246A probably damaging Het
Olfr1252 A T 2: 89,721,259 (GRCm38) I284K probably damaging Het
Olfr1329 A T 4: 118,916,986 (GRCm38) H160Q probably benign Het
Olfr506 T C 7: 108,612,991 (GRCm38) I228T probably damaging Het
Olfr740 G T 14: 50,453,885 (GRCm38) V278L probably benign Het
Olfr815 T C 10: 129,902,353 (GRCm38) D119G probably damaging Het
Olfr890 A T 9: 38,143,440 (GRCm38) M97L probably benign Het
Pde11a A T 2: 76,215,353 (GRCm38) F376I possibly damaging Het
Prima1 A T 12: 103,235,661 (GRCm38) C52S probably damaging Het
Pxn G A 5: 115,548,547 (GRCm38) R366H not run Het
Sgce T C 6: 4,691,564 (GRCm38) Y337C probably damaging Het
Slc25a10 T A 11: 120,495,460 (GRCm38) M130K probably benign Het
Slc29a2 A T 19: 5,024,262 (GRCm38) N5I probably benign Het
Slc35a1 A T 4: 34,673,875 (GRCm38) H150Q Het
Slc5a4a T A 10: 76,147,550 (GRCm38) V7D unknown Het
Stk17b T A 1: 53,766,000 (GRCm38) D134V probably damaging Het
Thbs3 T A 3: 89,216,707 (GRCm38) S36T probably benign Het
Thsd4 A G 9: 60,428,174 (GRCm38) S152P probably benign Het
Tmem67 G T 4: 12,063,698 (GRCm38) H422N probably benign Het
Tram1 C A 1: 13,589,644 (GRCm38) V27F probably damaging Het
Trim14 A G 4: 46,507,238 (GRCm38) V326A possibly damaging Het
Other mutations in Epsti1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01787:Epsti1 APN 14 77,972,612 (GRCm38) critical splice donor site probably null
IGL02749:Epsti1 APN 14 77,939,923 (GRCm38) missense probably damaging 1.00
IGL03031:Epsti1 APN 14 77,974,581 (GRCm38) missense probably benign 0.00
R0302:Epsti1 UTSW 14 77,939,926 (GRCm38) missense probably damaging 0.97
R0605:Epsti1 UTSW 14 77,927,237 (GRCm38) splice site probably benign
R0743:Epsti1 UTSW 14 77,931,275 (GRCm38) missense probably damaging 1.00
R0884:Epsti1 UTSW 14 77,931,275 (GRCm38) missense probably damaging 1.00
R1986:Epsti1 UTSW 14 77,932,233 (GRCm38) critical splice donor site probably null
R3162:Epsti1 UTSW 14 77,974,513 (GRCm38) splice site probably benign
R5118:Epsti1 UTSW 14 77,986,682 (GRCm38) splice site probably null
R5296:Epsti1 UTSW 14 77,904,650 (GRCm38) missense probably benign 0.03
R5392:Epsti1 UTSW 14 77,986,744 (GRCm38) missense probably benign 0.00
R5664:Epsti1 UTSW 14 77,963,664 (GRCm38) missense possibly damaging 0.73
R5948:Epsti1 UTSW 14 77,939,890 (GRCm38) missense probably damaging 1.00
R6402:Epsti1 UTSW 14 77,939,878 (GRCm38) missense probably damaging 0.98
R7494:Epsti1 UTSW 14 77,928,754 (GRCm38) missense probably benign 0.10
R7520:Epsti1 UTSW 14 77,963,443 (GRCm38) splice site probably null
R8039:Epsti1 UTSW 14 77,931,301 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGAGGAAGTTCTCTGAACCCAG -3'
(R):5'- GCCTGATTATATTCGGGAACAGG -3'

Sequencing Primer
(F):5'- CCCAGCGGGTGGTTAAAG -3'
(R):5'- ATATTCGGGAACAGGACTTCC -3'
Posted On 2019-11-12