Incidental Mutation 'R5392:Epsti1'
ID 425920
Institutional Source Beutler Lab
Gene Symbol Epsti1
Ensembl Gene ENSMUSG00000022014
Gene Name epithelial stromal interaction 1
Synonyms 5033415K03Rik, 2310046K10Rik, BRESI1
MMRRC Submission 042964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5392 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 78141679-78240096 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78224184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 272 (I272T)
Ref Sequence ENSEMBL: ENSMUSP00000022591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022591]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022591
AA Change: I272T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022591
Gene: ENSMUSG00000022014
AA Change: I272T

DomainStartEndE-ValueType
coiled coil region 111 180 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,852,088 (GRCm39) probably null Het
Acyp1 T C 12: 85,325,759 (GRCm39) probably benign Het
Ces1b G A 8: 93,798,590 (GRCm39) R199C probably damaging Het
Col6a3 C A 1: 90,729,017 (GRCm39) R1308L probably benign Het
Cpa5 C T 6: 30,630,829 (GRCm39) Q364* probably null Het
Cyth4 T A 15: 78,491,185 (GRCm39) L88Q probably damaging Het
Dock7 A G 4: 98,896,243 (GRCm39) V59A probably damaging Het
Drd2 A G 9: 49,306,928 (GRCm39) N5D possibly damaging Het
Fndc3b A T 3: 27,519,936 (GRCm39) C568* probably null Het
Frmd4a C T 2: 4,599,384 (GRCm39) A161V probably damaging Het
Gfpt1 A G 6: 87,054,139 (GRCm39) T465A probably damaging Het
Hecw1 C A 13: 14,420,347 (GRCm39) Q1025H probably damaging Het
Irak4 A T 15: 94,454,565 (GRCm39) M237L probably benign Het
Irak4 T C 15: 94,454,566 (GRCm39) M237T probably benign Het
Kdsr T A 1: 106,680,971 (GRCm39) I76F possibly damaging Het
Kif15 T C 9: 122,825,360 (GRCm39) F533S probably damaging Het
Kmt5b T C 19: 3,852,127 (GRCm39) F103L possibly damaging Het
Krtcap2 C T 3: 89,154,186 (GRCm39) L36F probably benign Het
Mroh7 A G 4: 106,568,448 (GRCm39) probably null Het
Mta1 T C 12: 113,096,856 (GRCm39) V559A probably benign Het
N4bp1 A G 8: 87,587,048 (GRCm39) probably null Het
Oas1d T C 5: 121,055,003 (GRCm39) S192P possibly damaging Het
Or1n1b T A 2: 36,780,686 (GRCm39) Y58F probably benign Het
Or6c76 A G 10: 129,612,184 (GRCm39) I149V probably benign Het
Or6d15 A G 6: 116,559,379 (GRCm39) F176S probably damaging Het
Rabgap1 T A 2: 37,359,501 (GRCm39) N21K probably damaging Het
Rad9b A T 5: 122,489,641 (GRCm39) C25S probably damaging Het
Spg7 T C 8: 123,814,102 (GRCm39) S454P probably damaging Het
Spink2 T A 5: 77,354,872 (GRCm39) H40L probably benign Het
Syne1 T A 10: 5,298,661 (GRCm39) D1082V probably damaging Het
Syt2 A G 1: 134,671,759 (GRCm39) D179G probably damaging Het
Tm7sf2 T C 19: 6,113,998 (GRCm39) D181G probably damaging Het
Vmn1r174 A G 7: 23,454,227 (GRCm39) I298V unknown Het
Vmn2r23 A T 6: 123,681,323 (GRCm39) H77L probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vps9d1 T C 8: 123,980,752 (GRCm39) E25G probably damaging Het
Zfp119a T C 17: 56,173,328 (GRCm39) R172G probably benign Het
Zfp51 A T 17: 21,685,584 (GRCm39) Y733F possibly damaging Het
Zfp658 A C 7: 43,222,355 (GRCm39) E210A probably benign Het
Zp2 C A 7: 119,734,987 (GRCm39) E433* probably null Het
Other mutations in Epsti1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01787:Epsti1 APN 14 78,210,052 (GRCm39) critical splice donor site probably null
IGL02749:Epsti1 APN 14 78,177,363 (GRCm39) missense probably damaging 1.00
IGL03031:Epsti1 APN 14 78,212,021 (GRCm39) missense probably benign 0.00
R0302:Epsti1 UTSW 14 78,177,366 (GRCm39) missense probably damaging 0.97
R0605:Epsti1 UTSW 14 78,164,677 (GRCm39) splice site probably benign
R0743:Epsti1 UTSW 14 78,168,715 (GRCm39) missense probably damaging 1.00
R0884:Epsti1 UTSW 14 78,168,715 (GRCm39) missense probably damaging 1.00
R1986:Epsti1 UTSW 14 78,169,673 (GRCm39) critical splice donor site probably null
R3162:Epsti1 UTSW 14 78,211,953 (GRCm39) splice site probably benign
R5118:Epsti1 UTSW 14 78,224,122 (GRCm39) splice site probably null
R5296:Epsti1 UTSW 14 78,142,090 (GRCm39) missense probably benign 0.03
R5664:Epsti1 UTSW 14 78,201,104 (GRCm39) missense possibly damaging 0.73
R5948:Epsti1 UTSW 14 78,177,330 (GRCm39) missense probably damaging 1.00
R6402:Epsti1 UTSW 14 78,177,318 (GRCm39) missense probably damaging 0.98
R7494:Epsti1 UTSW 14 78,166,194 (GRCm39) missense probably benign 0.10
R7520:Epsti1 UTSW 14 78,200,883 (GRCm39) splice site probably null
R7671:Epsti1 UTSW 14 78,141,930 (GRCm39) missense probably damaging 1.00
R8039:Epsti1 UTSW 14 78,168,741 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGCTATTCTGTTAGACTAAGCTGC -3'
(R):5'- CGCAGTTGGCATATCACAC -3'

Sequencing Primer
(F):5'- TTTTGCTGCCTACTTATTGAAGG -3'
(R):5'- GTTGGCATATCACACATACTGTACCG -3'
Posted On 2016-08-04